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February 17, 2024

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New research helps create new antibiotic that evades bacterial resistance

by Rob Mitchum, University of Illinois at Chicago

UIC research helps create new antibiotic that evades bacterial resistance

Scientists at the University of Illinois Chicago and Harvard University have developed an antibiotic that could give medicine a new weapon to fight drug-resistant bacteria and the diseases they cause.

The antibiotic, cresomycin, described in Science , effectively suppresses pathogenic bacteria that have become resistant to many commonly prescribed antimicrobial drugs .

The promising novel antibiotic is the latest finding for a longtime research partnership between the group of Yury Polikanov, associate professor of biological sciences at UIC, and colleagues at Harvard. The UIC scientists provide critical insights into cellular mechanisms and structure that help the researchers at Harvard design and synthesize new drugs.

In developing the new antibiotic , the group focused on how many antibiotics interact with a common cellular target—the ribosome —and how drug-resistant bacteria modify their ribosomes to defend themselves.

More than half of all antibiotics inhibit growth of pathogenic bacteria by interfering with their protein biosynthesis—a complex process catalyzed by the ribosome, which is akin to "a 3D printer that makes all the proteins in a cell," Polikanov said. Antibiotics bind to bacterial ribosomes and disrupt this protein-manufacturing process, causing bacterial invaders to die.

But many bacterial species evolved simple defenses against this attack. In one defense, they interfere with antibiotic activity by adding a single methyl group of one carbon and three hydrogen atoms to their ribosomes.

Scientists speculated that this defense was simply bacteria physically blocking the site where drugs bind to the ribosome, "like putting a push pin on a chair," Polikanov said. But the researchers found a more complicated story, as they described in a paper published last month in Nature Chemical Biology .

By using a method called X-ray crystallography to visualize drug-resistant ribosomes with nearly atomic precision, they discovered two defensive tactics. The methyl group, they found, physically blocks the binding site , but it also changes the shape of the ribosome's inner "guts," further disrupting antibiotic activity.

Polikanov's laboratory then used X-ray crystallography to investigate how certain drugs, including one published in Nature by the UIC/Harvard collaboration in 2021, circumvent this common form of bacterial resistance.

"By determining the actual structure of antibiotics interacting with two types of drug-resistant ribosomes, we saw what could not have been predicted by the available structural data or by computer modeling," Polikanov said. "It's always better to see it once than hear about it 1,000 times, and our structures were important for designing this promising new antibiotic and understanding how it manages to escape the most common types of resistance."

Cresomycin, the new antibiotic, is synthetic. It's preorganized to avoid the methyl-group interference and attach strongly to ribosomes, disrupting their function. This process involves locking the drug into a shape that is pre-optimized to bind to the ribosome, which helps it get around bacterial defenses.

"It simply binds to the ribosomes and acts as if it doesn't care whether there was this methylation or not," Polikanov said. "It overcomes several of the most common types of drug resistance easily."

In animal experiments conducted at Harvard, the drug protected against infections with multidrug-resistant strains of common disease drivers including Staphylococcus aureus, Escherichia coli and Pseudomonas aeruginosa. Based on these promising results, the next step is to assess the effectiveness and safety of cresomycin in humans.

But even at this early stage, the process demonstrates the critical role that structural biology plays in designing the next generation of antibiotics and other life-saving medicines, according to Polikanov.

"Without the structures, we would be blind in terms of how these drugs bind and act upon modified drug-resistant ribosomes," Polikanov said. "The structures that we determined provided fundamental insight into the molecular mechanisms that allow these drugs to evade the resistance."

In addition to Polikanov, UIC co-authors include Elena Aleksandrova, Egor Syroegin and Maxim Svetlov on the Science paper and Aleksandrova, Syroegin, Svetlov and Samson Balasanyants on the Nature Chemical Biology paper.

Journal information: Nature Chemical Biology , Science , Nature

Provided by University of Illinois at Chicago

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Recent advances in forensic biology and forensic DNA typing: INTERPOL review 2019–2022

Associated data.

This review paper covers the forensic-relevant literature in biological sciences from 2019 to 2022 as a part of the 20th INTERPOL International Forensic Science Managers Symposium. Topics reviewed include rapid DNA testing, using law enforcement DNA databases plus investigative genetic genealogy DNA databases along with privacy/ethical issues, forensic biology and body fluid identification, DNA extraction and typing methods, mixture interpretation involving probabilistic genotyping software (PGS), DNA transfer and activity-level evaluations, next-generation sequencing (NGS), DNA phenotyping, lineage markers (Y-chromosome, mitochondrial DNA, X-chromosome), new markers and approaches (microhaplotypes, proteomics, and microbial DNA), kinship analysis and human identification with disaster victim identification (DVI), and non-human DNA testing including wildlife forensics. Available books and review articles are summarized as well as 70 guidance documents to assist in quality control that were published in the past three years by various groups within the United States and around the world.

1. Introduction

This review explores developments in forensic biology and forensic DNA analysis of biological evidence during the years 2019–2022. In some cases, there may be overlap with 2019 articles mentioned in the previous INTERPOL review covering 2016 to 2019 [ 1 ]. This review includes books and review articles, published guidance documents to assist in quality control, rapid DNA testing, using law enforcement DNA databases plus investigative genetic genealogy DNA databases along with privacy/ethical issues, forensic biology and body fluid identification, DNA extraction and typing methods, mixture interpretation involving probabilistic genotyping software (PGS), DNA transfer and activity level evaluations, next-generation sequencing (NGS), DNA phenotyping, lineage markers (Y-chromosome, mitochondrial DNA, X-chromosome), new markers and approaches (microhaplotypes, proteomics, and microbial DNA), kinship analysis and human identification with disaster victim identification (DVI), and non-human DNA testing including wildlife forensics.

Multiple searches, using the Scopus (Elsevier) and Web of Science (Clarivate) databases, were conducted in the first half of 2022 with “forensic” and “DNA” or “biology” and “2019 to 2022” as search options. Over 4000 articles were returned with these searches. Through visual examination of titles and authors, duplicates were removed, and articles sorted into 32 subcategories to arrive at a list of almost 2000 publications that were supplemented throughout the remainder of the year as this review was being prepared. The tables of contents for non-indexed journals, such as WIRES Forensic Science , Journal of Forensic Identification , and Forensic Genomics were also examined to locate potentially relevant articles.

For example, a Scopus search conducted on June 13, 2022, using “forensic DNA” and “2019 to 2022” found a total of 3059 documents. Table 1 lists the top ten journals from this search. The Forensic Science International: Genetics Supplement Series (see row #4 in Table 1 ) provides the proceedings of the International Society for Forensic Genetics (ISFG) meeting held in Prague in September 2019. This volume contains 914 pages with 347 articles (although only 172 showed up in the Scopus search) that are freely available at https://www.fsigeneticssup.com /[ 2 ]. Thus, searches conducted with one or even multiple databases (e.g., Scopus and Web of Science) may not be comprehensive or exhaustive.

Top ten journals with forensic DNA articles published from 2019 to 2022 based on a Scopus search on June 13, 2022.

1.1. Books, special issues, and review articles of note

Books published during the period of this review relating to forensic biology and forensic DNA include Essential Forensic Biology, Third Edition [ 3 ], Principles and Practices of DNA Analysis: A Laboratory Manual for Forensic DNA Typing [ 4 ], Forensic DNA Profiling: A Practical Guide to Assigning Likelihood Ratios [ 5 ], Forensic Practitioner's Guide to the Interpretation of Complex DNA Profiles [ 6 ], Silent Witness: Forensic DNA Evidence in Criminal Investigations and Humanitarian Disasters [ 7 ], Mass Identifications: Statistical Methods in Forensic Genetics [ 8 ], Probability and Forensic Evidence: Theory, Philosophy, and Applications [ 9 ], Interpreting Complex Forensic DNA Evidence [ 10 ], Understanding DNA Ancestry [ 11 ], Understanding Forensic DNA [ 12 ], and Handbook of DNA Profiling [ 13 ]. The 2022 Handbook of DNA Profiling spans two volumes and 1206 pages with 54 chapters from 115 contributors representing 17 countries.

Over the past three years, several special issues on topics related to forensic biology were published in Forensic Science International: Genetics and Genes . These special issues were typically collated virtually rather than physically as invited articles were published online over some period of time and then bundled together virtually as a special issue. Some of these review articles or a set of special issue articles are open access (i.e., the authors paid a publication fee so that the article would be available online for free to readers).

During the time frame of this INTERPOL DNA review, FSI Genetics published two special issues: (1) “Trends and Perspectives in Forensic Genetics” (editor: Manfred Kayser) 1 with nine review and two original research articles published between September 2018 and January 2019, and (2) “Forensic Genetics – Unde venisti et quo vadis?” [Latin for “where did you come from and where are you going?”] (editor: Manfred Kayser) with nine articles published in 2021 and early 2022 and likely two more before the end of 2022. Topics for review articles in these special issues include DNA transfer [ 14 ], probabilistic genotyping software [ 15 ], microhaplotypes in forensic genetics [ 16 ], investigative genetic genealogy [ 17 ], forensic proteomics [ 18 ], distinguishing male monozygotic twins [ 19 ], and using the human microbiome for estimating post-mortem intervals and identifying individuals, tissues, or body fluids [ 20 , 21 ]. All of these topics will be discussed later in this article.

A Genes special issue “Forensic Genetics and Genomics” (editors: Emiliano Giardina and Michele Ragazzo) 2 published 11 online articles plus an editorial from April 2020 to January 2021 while another Genes special issue “Forensic Mitochondrial Genomics” (editors: Mitch Holland and Charla Marshall) 3 compiled 11 articles from February 2020 to April 2021. An “Advances in Forensic Genetics” Genes special issue (editor: Niels Morling) 4 included 25 articles shared between April 2021 and May 2022. In July 2022, the Advances in Forensic Genetics articles were compiled as a 518-page book. 5 Other Genes special issues in development or forthcoming covering aspects of forensic DNA and requesting potential manuscripts by late 2022 or early 2023 include “State-of-the-Art in Forensic Genetics” (editor: Chiara Turchi), 6 “Trends in Population Genetics and Identification—Impact on Anthropology (editors: Antonio Amorim, Veronica Gomes, Luisa Azevedo), 7 “Identification of Human Remains for Forensic and Humanitarian Purposes: From Molecular to Physical Methods” (editors: Elena Pilli, Cristina Cattaneo), 8 “Improved Methods in Forensic and DNA Analysis” (editor: Marie Allen), 9 “Forensic DNA Mixture Interpretation and Probabilistic Genotyping” (editor: Michael Coble) 10 , and “Advances in Forensic Molecular Genetics” (editors: Erin Hanson and Claire Glynn). 11 There has been a proliferation of review articles and special issues in this field in the past several years!

A new journal Forensic Science International: Reports was launched in November 2019. As of June 2022, it has published 89 articles involving DNA, most of which are descriptions of population genetic data. Likewise, a June 27, 2022, PubMed search with “forensic DNA” and the journal “Genes” found 88 articles – many of which are part of the previously mentioned special issues.

1.2. Guidance documents

Numerous documentary standards and guidance documents related to forensic DNA have been published by various organizations around the world. Table 2 lists 70 such documents released in the past three years (2019–2022) in the United States, UK, Australia, and the European Union.

Guidance documents related to forensic DNA published from 2019 to 2022. The titles are hyperlinked to available documents. Abbreviations: FBI (Federal Bureau of Investigation), CODIS (Combined DNA Index System), SWGDAM (Scientific Working Group on DNA Analysis Methods), NGS (next generation sequencing), US DOJ (United States Department of Justice), ULTR (Uniform Language for Testimony and Reports), AABB (Association for the Advancement of Blood and Biotherapies), ASB (Academy Standards Board), OSAC (Organization of Scientific Area Committees for Forensic Science), UKFSR (United Kingdom Forensic Science Regulator), ENFSI (European Network of Forensic Science Institutes), NIFS (National Institute of Forensic Science), ISFG (International Society for Forensic Genetics).

1.2.1. SWGDAM, FBI, and other US DOJ activities

The Federal Bureau of Investigation (FBI) Laboratory funds the Scientific Working Group on DNA Analysis Methods (SWGDAM) 12 to serve as a forum for discussing, sharing, and evaluating forensic biology methods, protocols, training, and research. In addition to creating guidelines on various topics, SWGDAM, which meets semiannually in January and July, provides recommendations to the FBI Director on the Quality Assurance Standards (QAS) used to assess U.S. forensic DNA laboratories involved in the National DNA Index System (NDIS) that perform DNA databasing and forensic casework. New versions of the QAS became effective July 1, 2020.

SWGDAM work products from the timeframe of 2019–2022 (see Table 2 ) include QAS audit and guidance documents, mitochondrial DNA analysis and short tandem repeat (STR) interpretation guideline revisions related to next-generation sequencing (NGS), training and Y-chromosome interpretation guidelines, a Y-chromosome Haplotype Reference Database (YHRD) update for U.S. laboratories, and reports on investigative genetic genealogy and Y-screening of sexual assault evidence kits. These documents are all accessible online. 13

In January 2022, the FBI produced a 13-page guide 14 on rapid DNA testing describing booking station applications and their vision for future integration of crime scene sample analysis and the Combined DNA Index System (CODIS), which builds on a joint position statement published in July 2020 by leaders of U.S. and European groups [ 22 ]. In addition, the FBI has shared guidance on their website for non-CODIS use of rapid DNA testing with law enforcement applications 15 and considerations for court. 16

United States Department of Justice (US DOJ) Uniform Language for Testimony and Reports (ULTRs), 17 contain three ULTRs for the forensic DNA discipline that became effective in March 2019: autosomal DNA with probabilistic genotyping, mitochondrial DNA, and Y-STR DNA. USDOJ also released an interim policy on investigative genetic genealogy in November 2019 [ 23 ] along with an opinion piece in the journal Science calling for responsible genetic genealogy [ 24 ].

Other agencies within US DOJ, namely the Bureau of Justice Assistance (BJA) and the National Institute of Justice (NIJ), published a guide for prosecutors on triaging forensic evidence [ 25 ] and best practices for improving DNA laboratory process efficiency [ 26 ]. A 200-page report to Congress on the needs assessment of forensic laboratories and medical examiner/coroner offices was released in December 2019 calling for $640 million annually in additional funding to support U.S. forensic efforts [ 27 ].

In September 2021, the Forensic Technology Center of Excellence (FTCOE), which is funded by NIJ, published a 29-page implementation strategy on next-generation sequencing for DNA analysis that was written by the NIJ Forensic Laboratory Needs Technology Working Group (FLN-TWG) [ 28 ]. In May 2022, FTCOE released a 50-page landscape study examining technologies and automation for differential extraction and sperm separation used in sexual assault investigations [ 29 ]. An introduction to forensic genetic genealogy was released in September 2022 [ 30 ].

The FTCOE also published a human factors forensic science sourcebook 18 in March 2022 through open access articles in the journal Forensic Science International: Synergy . This sourcebook, which has general applicability rather than being specific to forensic DNA analysts, includes an overview article [ 31 ] along with articles on personnel selection and assessment [ 32 ], the benefits of committing errors during training [ 33 ], how characteristics of human reasoning and certain situations can contribute to errors [ 34 ], stressors that impact performance [ 35 ], and the impact of communication between forensic analysts and detectives using a new metaphor [ 36 ].

1.2.2. OSAC and ASB activities

The Organization of Scientific Area Committees for Forensic Science (OSAC) 19 is congressionally-funded and administered by the Special Programs Office within the National Institute of Standards and Technology (NIST). OSAC consists of a governing board and over 600 members and associates organized into seven scientific area committees (SACs) and 22 subcommittees. The Biology SAC is divided into human and wildlife forensic biology activities. The Human Forensic Biology Subcommittee 20 focuses on standards and guidelines related to training, method development and validation, data analysis, interpretation, and statistical analysis as well as reporting and testimony for human forensic serological and DNA testing. The Wildlife Forensics Subcommittee 21 works on standards and guidelines related to taxonomic identification, individualization, and geographic origin of non-human biological evidence based on morphological and genetic analyses.

The Academy Standards Board (ASB) 22 is a wholly owned subsidiary of the American Academy of Forensic Sciences (AAFS) and was established as a standards developing organization (SDO). In 2015, ASB was accredited as an SDO by the American National Standards Institute (ANSI). The ASB DNA Consensus Body, with a membership consisting of practitioners, researchers, and lawyers, develops standards and guidelines related to the use of DNA in legal proceedings. Many of the documents developed by ASB were originally proposed OSAC standards or guidelines.

The OSAC Registry 23 is a repository of high-quality and technically-sound standards (both published and proposed) that are intended for implementation in forensic science laboratories. As of July 2022, the OSAC Registry contains 11 standards published by ASB as well as two (2) proposed OSAC standards or best practice recommendations related to human forensic biology. Another four ASB standards and two proposed OSAC standards related to wildlife forensic biology are on the OSAC Registry. The ASB standards issued in the past three years related to human forensic biology cover interpretation and comparison protocols, training in various parts of the process, and validation of forensic serological and DNA analysis methods as well as probabilistic genotyping systems (see Table 2 for names of these documents). A number of other documents 24 related to serological testing methods, assigning propositions for likelihood ratios in forensic DNA interpretations, validation of forensic DNA methods and software, familial DNA searching, management and use of quality assurance DNA elimination databases, setting thresholds, evaluative forensic DNA testimony, and training in use of statistics are in development within OSAC and ASB.

Additional work products of OSAC include (1) a lexicon 25 with 3282 records (although multiple records may exist for the same word, e.g., there are five definitions provided for “validation” from various sources), (2) a 35-page technical guidance document 26 on human factors in validation and performance testing that describes key issues in designing, conducting, and reporting validation research, (3) a listing of research and development needs in forensic science 27 including 18 identified by the OSAC Human Forensic Biology Subcommittee during their deliberations ( Table 3 ), and (4) process maps for several forensic disciplines including a 42-page depiction of current practices and decisions in human forensic DNA analysis released in May 2022 [ 37 ]. As a visual representation of critical steps and decision points, a process map is intended to help improve efficiencies and reduce errors, and highlight gaps where further research or standardization would be beneficial. Process maps can assist with training new examiners and enable development of specific laboratory policies or help identify best practices for the field.

Research and development needs in forensic biology as identified by the OSAC Human Forensic Biology Subcommittee (as of July 2022, see https://www.nist.gov/osac/osac-research-and-development-needs ).

1.2.3. UK Forensic Science Regulator

The UK Forensic Science Regulator (UKFSR) oversees forensic science efforts in England, Wales, and Northern Ireland. In March 2021, the Regulator released the seventh issue 28 of the Codes of Practice and Conduct for forensic science providers and practitioners in the criminal justice system. This 114-page document, which has been updated every few years, provides the overall framework for forensic science activities in the UK with other supporting guidance documents on specific areas like DNA analysis or general tasks like validation. In September 2020, a number of the Regulator documents were revised and reissued. As noted in Table 2 (see rows with documents containing “Issue 1” in the title), new guidance documents were also released in the past few years on sexual assault examinations, development of evaluative opinions, proficiency testing for DNA mixture interpretation, Y-STR profiling, DNA relationship testing, and methods employing rapid DNA testing devices. Table 2 lists 20 guidance documents pertinent to forensic biology from the UKFSR.

1.2.4. European Union and Australia

The European Network of Forensic Science Institutes (ENFSI) DNA Working Group published two documents in the past three years: one on DNA database management and the other on training of staff in forensic DNA laboratories (see Table 2 ). A best practice manual for human forensic biology and DNA profiling is also under development.

The Australian National Institute of Forensic Science (NIFS) published three documents of relevance to forensic biology on case record review, empirical study design, and transitioning technology from the laboratory to the field (see Table 2 ).

1.2.5. Other international efforts

The Association for the Advancement of Blood and Biotherapies (AABB) 29 published the 15th edition of their Standard for Relationship Testing Laboratories, which became effective on January 1, 2022. This documentary standard was developed by the AABB Relationship Testing Standards Committee and applies to laboratories accredited for paternity testing and other forms of genetic relationship assessment.

The International Society for Forensic Genetics (ISFG) DNA Commission 30 published two articles during the timeframe of this INTERPOL review (see Table 2 ). In 2020, guidelines and considerations were published on evaluating DNA results under activity level propositions [ 38 ]. In addition, the state of the field regarding interpretation of Y-STR results was examined along with different approaches for haplotype frequency estimation using population data – with the Discrete Laplace approach being recommended [ 39 ]. Future ISFG DNA Commission efforts will address STR allele sequence nomenclature and phenotyping.

2. Advancements in current practices

This section (Section 2 ) is intended to be law enforcement and practitioner-focused through examination of advances in current practices. The following section (Section 3 ) is intended to be researcher-focused through emphasis on emerging technologies and new developments. In this section, topics specifically covered include rapid DNA analysis, use of DNA databases to aid investigations (including familial searching, investigative genetic genealogy, genetic privacy and ethical concerns, and sexual assault kit testing), body fluid identification, DNA extraction and typing methods, and DNA interpretation at the sub-source and activity level.

2.1. Rapid DNA analysis

Rapid DNA instruments that provide integrated “swab-in-profile-out” results in 90 min or less can be used in police booking station environments and assist investigations outside of a traditional laboratory environment. These instruments were initially designed for analysis of buccal swabs to help speed processing of reference samples associated with criminal cases. Such samples are expected to contain relatively large quantities of DNA from a single contributor. Some attempts to extend the range of sample types to low quantities of DNA or mixtures have been published with various levels of success (see Table 4 ). Researcher and practitioners from Australia [ [40] , [41] , [42] ], Canada [ 43 ], China [ 44 ], Italy [ 45 ], Japan [ 46 , 47 ], and the United States [ [48] , [49] , [50] , [51] , [52] , [53] , [54] , [55] , [56] , [57] ] have contributed to an increased understanding of rapid DNA testing capabilities and limitations.

Summary of 20 rapid DNA instrument validation and evaluation studies published from 2019 to 2022. Abbreviations: A-Chip (arrestee cartridge, designed for high-quantity DNA samples), I-Chip (investigative cartridge, designed for low-quantity DNA samples), ACE (arrestee cartridge with GlobalFiler STR markers), RapidINTEL (uses 32 rather than 28 PCR cycles to increase success with low-quantity DNA samples). A-Chip and I-Chip amplify the FlexPlex set of 23 autosomal STRs, three Y-STRs, and amelogenin [ 51 ]. ACE and RapidINTEL utilize the GlobalFiler set of 21 autosomal STRs, one Y-STR, one Y-chromosome InDel, and amelogenin.

The Accelerated Nuclear DNA Equipment (ANDE) 6C (ANDE, Longmont, CO, USA) and the RapidHIT ID (Thermo Fisher Scientific, Waltham, MA, USA) are the current 31 commercially available rapid DNA systems. Each system consists of a swab for introducing the sample, a cartridge or biochip with pre-packed reagents, the instrument, and analysis software with an expert system for automated STR allele calling. Different sample cartridges can be run on each system depending on the sample type and expected quantity of DNA.

For ANDE, the arrestee cartridge (A-Chip), can accommodate up to five samples and is intended for relatively high quantities of DNA typically collected from reference buccal swabs, while the investigative cartridge (I-Chip), can process up to four samples and is intended for lower quantities of DNA that might be present in casework or disaster victim identification samples. Both ANDE cartridges use the FlexPlex27 STR assay that tests 23 autosomal STR loci, three Y-chromosome STRs, and amelogenin to generate data compatible with DNA databases around the world [ 51 ]. The RapidHIT ID ACE cartridge and RapidINTEL cartridge serve similar purposes as the ANDE A-Chip and I-Chip using GlobalFiler Express kit markers (21 autosomal STRs, DYS391, a Y-chromosome insertion/deletion marker, and amelogenin) instead of the FlexPlex assay. The ACE sample cartridge uses buccal swabs while the EXT sample cartridge processes DNA extracts [ 56 ]. Sensitivity is enhanced in the RapidINTEL cartridge by increasing the number of PCR cycles from 28 to 32 and decreasing the lysis buffer volume from 500 μL to 300 μL compared to the ACE cartridge parameters [ 46 ].

With rapid DNA testing's swab-in and answer-out integrated configuration, limited options exist for testing conditions (e.g., either A-Chip or I-Chip with ANDE). Therefore, users should evaluate performance for the sample types they desired to routinely test in their specific environment. Table 4 summarizes recently published studies containing rapid DNA assessments.

National DNA Index System (NDIS) approval has been provided by the FBI Laboratory for accredited forensic DNA laboratories to use either the ANDE 6C or RapidHIT ID Systems (A-Chip and ACE cartridges only) 32 with eligible reference mouth swabs. As noted in Table 2 , the FBI.gov website contains three documents related to rapid DNA testing: “Non-CODIS Rapid DNA Considerations and Best Practices for Law Enforcement Use” (7-pages), “Rapid DNA Testing for Non-CODIS Uses: Considerations for Court” (5-pages), and “A Guide to All Things Rapid DNA” (13-pages) in January 2022 to provide information on the topic to law enforcement agencies.

The ENFSI DNA Working Group, SWGDAM, and an FBI Rapid DNA Crime Scene Technology Advancement Task Group co-published a position statement on the use of rapid DNA testing from crime scene samples [ 22 ]. These groups emphasized the need to have future rapid DNA systems with (1) methods to identify low quantity, degradation, and inhibition as well as meeting the human quantification requirements shared by SWGDAM and others, (2) the ability to export analyzable raw data for analysis or reanalysis by trained and qualified forensic DNA analysts, (3) an on-board fully automated expert system to accurately flag single-source or mixture DNA profiles requiring analyst evaluation, (4) improved peak height ratio balance (per locus and across loci) for low-quality and mixture samples “through enhancements in extraction efficiencies, changes in cycling parameters, and/or changes in STR kit chemistries,” and (5) published developmental validation studies on a wide variety of forensic evidence type samples with “data-supported recommendations regarding types of forensic evidence that are suitable and unsuitable for use with Rapid DNA technology” [ 22 ].

With a likely increase in the capabilities and the availability of rapid DNA systems, investigators will need to decide whether to use this capability onsite in specific situations or to send collected samples to a conventional forensic laboratory for processing at a later time. A group in the Netherlands collaborated with the New York City Police Department Crime Scene Unit and Evidence Collection Team to explore a decision support system [ 60 ]. In this study, participants were informed that rapid DNA testing was less sensitive compared to laboratory analysis and that the sample would be consumed, but that results from rapid DNA testing could identify a suspect within 2 h as opposed to waiting an average of 45 days for the laboratory results [presumably due to sample backlogs]. They were also told that a DNA profile obtained with rapid DNA would be acceptable in court. In the end, “>90% of the participants (85 out of 91) saw added value for using a Rapid DNA device in their investigative process …” with “a systematic approach, which consists of weighing all possible outcomes before deciding to use a Rapid DNA analysis device” [ 60 ]. The authors note that for such an approach to be successful “knowledge on DNA success rates [with various evidence types] is necessary in making evidence-based decisions for Rapid DNA analysis” [ 60 ].

A group in Australia performed a cost-benefit analysis of a decentralized rapid DNA workflow that might exist in the future with instruments placed at police stations around their country [ 61 ]. A virtual assessment considered all reference DNA samples collected during a two-month time period at 10 participating police stations in five regions of Australia. Processing times at the corresponding DNA analysis laboratories were calculated based on when the sample was received compared to the day when a DNA profile was obtained for that sample. From the survey conducted, it was estimated that up to 80,000 reference DNA samples are currently processed each year in forensic DNA laboratories across Australia [ 61 ].

Consumable costs for conventional DNA testing reagents in Australia were found to range from $17 to $35 whereas the rapid DNA consumable costs were estimated to be $100 per sample along with an anticipated $100,000 instrument cost per police station. Of course, the rate of use is expected to vary based on the number of reference samples collected in that jurisdiction. Since rapid DNA instruments utilize consumable cartridges with expiration dates, it was estimated that a police station would need to process six DNA samples per week to avoid having to discard an expired cartridge and thus increase the overall cost of their rapid DNA testing efforts. The authors of this study conclude “that routine laboratory DNA analysis meets the current needs for the majority of cases … It is anticipated that while the cost discrepancy between laboratory and rapid DNA processing remains high, the uptake of the technology in Australia will be limited [at least for a police booking station scenario]” [ 61 ].

Rapid DNA technology can be used in a variety of contexts including some that extend beyond traditional law enforcement. Seven distinct use contexts for rapid DNA capabilities have been described [ 62 ]: (1) evidence processing at or near crime scenes to generate leads for confirmation by a forensic laboratory, (2) booking or detection stations to compare an individual's DNA profile to a forensic database while the individual is still in custody, (3) disaster victim identification to permit rapid DNA processing of a victim's family members during their visit to family assistance centers when filing missing persons reports, (4) missing persons investigations to quickly process unidentified human remains and/or family reference samples to generate leads for confirmation by a forensic laboratory, (5) border security to develop DNA data from detainees for comparison to indices of prior border crossers while the individual is still in custody, (6) human trafficking and immigration fraud detection to permit immigration officials to verify family relationship claims, and (7) migrant family reunification to allow immigration officials to verify parentage claims and reunite family members separated at the border. Social and ethical considerations have been proposed for each of these use contexts in terms of data collection, data access and storage, and oversight and data protection [ 62 ].

One study [ 47 ] evaluating buccal swabs and mock disaster victim identification samples drew an important conclusion worth repeating here: “The Rapid DNA system provides robust and automated analysis of forensic samples without human review. Sample analysis failure can happen by chance in both the Rapid DNA system and conventional laboratory STR testing. While re-injection of PCR product is easily possible in the conventional method, this is not an option with the Rapid DNA system. Accordingly, the Rapid DNA system is a suitable choice but should be limited to samples that can easily be collected again if necessary or to samples that are of sufficient amount for repeated analysis. Application of this system to valuable samples such as those related to casework need to be considered carefully before analysis.”

2.2. Using DNA databases to aid investigations (national databases, familial searching, investigative genetic genealogy, genetic privacy & ethical concerns, sexual assault kit testing)

Forensic DNA databases can aid investigations by demonstrating connections between crime scenes, linking a previously enrolled DNA profile from an arrestee or convicted offender to biological material recovered from a crime scene, or aiding identification of missing persons through association of remains with biological relatives. Establishment of these databases requires significant investments over time to enroll data from crime scenes and potential serial offenders or unidentified human remains and relatives of missing persons. This section explores issues around national DNA databases, familial searching, investigative genetic genealogy, and genetic privacy and ethical concerns.

A systematic review regarding the effectiveness of forensic DNA databases looked at 19 articles published between 1985 and 2018 and found most studies support the assumption that DNA databases are an effective tool for the police, society, and forensic scientists [ 63 ]. Recommendations have been proposed to make cross-border exchange of DNA data more transparent and accountable with the Prüm system that enables information sharing across the European Union [ 64 ]. An analysis of news articles discussing the use of DNA testing in family reunification with migrants separated at the U.S.-Mexico border has been performed [ 65 ], and a standalone humanitarian DNA identification database has been proposed [ 66 ]. Aspects of international DNA kinship matching were explored to aid missing persons investigations and disaster victim identification processes [ 67 ]. A business case was presented for expanded DNA indirect matching using additional genetic markers, such as Y-chromosome STRs, mitochondrial DNA, and X-chromosome STRs, to reveal previously undetected familial relationships [ 68 ].

Approaches to transnational exchange of DNA data include (1) creation of an international DNA database, (2) linked or networked national DNA databases, (3) request-based exchange of data, and (4) a combination of these [ 69 ]. For example, the INTERPOL DNA database 33 contains more than 247,000 profiles contributed by 84 member countries. The I-Familia global database assists with missing persons identification based on international DNA kinship matching. 34

2.2.1. National DNA databases

Since the United Kingdom launched the first national DNA database in 1995, national DNA databases continue to be added in many countries including Brazil [ 70 , 71 ], India [ 72 ], Pakistan [ 73 , 74 ], Portugal [ 75 ], and Serbia [ 76 ]. A survey of 15 Latin American countries found that 13 of them had some kind of DNA database [ 77 ]. The opinions of 210 prisoners and prison officials in three Spanish penitentiary centers were also collected regarding DNA databases [ 78 ].

The effectiveness of databases has been debated over the years. Seven key indicators were used in a 2019 examination of the effectiveness of the UK national DNA database. These indicators included (1) implementation cost – the financial input required to implement the database system, (2) crime-solving capability – the ability of the database to assist criminal justice officials in case resolution, (3) incapacitation effect – the ability of the database to reduce crime through the incapacitation of offenders, (4) deterrence effect – the preventative potential of the database through deterrence of individuals from committing crime, (5) privacy protection – protection of the privacy or civil liberty rights of individuals, (6) legitimacy – compliance of the databasing system to the principle of proportionality, and (7) implementation efficiency – the time and non-monetary resource required to implement the database system [ 79 ].

A follow-up article concluded: “Available evidence shows that while DNA analysis has contributed to successful investigations in many individual cases, its aggregate value to the resolution of all crime is low” [ 80 ]. The systematic review of 19 articles on DNA databases cited previously noted “the expansion of DNA databases would only have positive effects on detection and clearance if the offender were already included in the database” [ 63 ]. When previous offenders are not already in a law enforcement DNA database to provide a hit to a crime scene profile, efforts are increasingly turning to familial searching and investigative genetic genealogy as described in the following sections.

2.2.2. Familial DNA searching

Familial DNA searching (FDS) extends the traditional direct matching of STR profiles within law enforcement databases to search for potential close family relationships, such as a parent or sibling, of a profile in the database. 35 FDS typically uses Y-STR lineage testing to narrow the set of candidate possibilities along with other case information such as geographic details of the crime and age of the person(s) of interest. For example, FDS helped solve murder cases in Romania [ 81 ] and China [ 82 ] by locating the perpetrator through a relative in the DNA database. A survey of 103 crime laboratories in the United States found that 11 states use FDS while laboratories in 24 states use a similar but distinct practice of partial matching [ 83 ].

The expansion of the number of STRs from 15 to 20 or 21 helps distinguish between true and false matches during a DNA database search by reducing the number of FDS adventitious matches [ 84 ]. Another study noted that the choice of allele frequencies affects the rate at which non-relatives are erroneously classified as relatives and found that using ancestry inference on the query profile can reduce false positive rates [ 85 ]. New Y-STR kits have been developed to assist with familial searching [ 86 , 87 ]. FDS of law enforcement databases differs from investigative genetic genealogy in two important ways – the genetic markers and the databases used for searching [ 88 , 89 ].

2.2.3. Investigative genetic genealogy

In recent years when national DNA databases fail to generate a lead to a potential person of interest, law enforcement agencies have started to utilize the capabilities of investigative genetic genealogy (IGG), also called forensic genetic genealogy (FGG) or forensic investigative genetic genealogy (FIGG), as an approach to locate potential persons of interest in criminal or missing persons cases. For example, a pilot case study in Sweden used IGG to locate the perpetrator of a double murder from 2004 who had evaded detection despite 15 years of various investigation efforts including more than 9000 interrogations and mass DNA screenings of more than 6000 men [ 90 ]. Hardly a week goes by without mention in the global media of another cold case being solved with IGG. Since the arrest of Joseph DeAngelo in April 2018 identified as the infamous Golden State Killer using IGG, hundreds of cold criminal and unidentified human remains cases have been resolved [ 91 ].

IGG involves examination of about 600,000 single nucleotide polymorphisms (SNPs), rather than the 20 or so STRs used in conventional forensic DNA testing, to enable associations of relatives as distant as third or fourth cousins [ 17 ]. IGG relies on a combination of publicly accessible records and the consent of individuals who have uploaded their genetic genealogy DNA profiles to genetic genealogy databases [ 92 ]. Multiple reviews and research articles have been published describing current IGG methods, knowledge, and practice along with the effectiveness and operational limits of the technique [ 17 , 30 , [93] , [94] , [95] , [96] , [97] ]. IGG works best with high-quality, single-source DNA samples. A case study involving whole genome sequencing of human remains from a 2003 murder victim found that it was possible to perform IGG for identification of the victim in this situation [ 98 ].

The four main direct-to-consumer (DTC) genetic genealogy companies, 23andMe (Mountain View, CA), Ancestry (Salt Lake City, UT), FamilyTree DNA (Houston, TX), and My Heritage (Lehi, UT), have DNA data from over 41 million individuals 36 as of July 2022 [ 97 ]. Individuals can upload their DTC data to GEDmatch, which is a DNA comparison and analysis website launched in 2010 and purchased in 2019 by Verogen (San Diego, CA). Law enforcement IGG searches are currently permitted with DTC data for individuals who opt into the GEDmatch database or do not opt out of the FamilyTree DNA database [ 99 , 100 ]. Currently most DTC genetic genealogy data comes from the United States and individuals of European origin. A UK study found that 4 of 10 volunteer donors could be identified with IGG including someone of Indian heritage demonstrating that under the right circumstances individuals of non-European origin can be identified [ 101 ].

As noted previously in Section 1.2.1 , the U.S. Department of Justice released an interim policy guide to forensic genetic genealogical DNA analysis and searching [ 23 ], and the FBI Laboratory's chief biometric scientist published an editorial in Science calling for responsible genetic genealogy [ 24 ]. SWGDAM has provided an overview of IGG that emphasizes the approach being used only after a regular STR profile search of a law enforcement DNA database fails to produce any investigative leads [ 102 ]. Policy and practical implications of IGG have been explored in Australia [ 103 ] and within the UK as part of probing the perceptions of 45 professional and public stakeholders [ 104 , 105 ].

Four misconceptions about IGG were examined by several members of the SWGDAM group: (1) when law enforcement conducts IGG in a genetic genealogy database, they are given special access to participants' SNP profiles, (2) law enforcement will arrest a genetic genealogy database participant's relatives based on the genetic information the participant provided to the database, (3) IGG necessarily involves collecting and testing DNA samples from a larger number of innocent persons than would be the case if IGG were not used in the investigation, and (4) IGG is or soon will be ubiquitous because there are no barriers to IGG that limit the cases in which it can be conducted [ 106 ].

In May 2021, the state of Maryland passed the first law in the United States and in the world that regulates law enforcement's use of DTC genetic data to investigate crimes. A policy forum article in Science explained how this new law provides a model for others in this area [ 107 ]. Six important features were described: (1) requiring judicial authorization for the initiation of an IGG search, (2) affirming individual control over the investigative use of one's genetic data, (3) establishing strong protections for third parties who are not suspects in the case, (4) ensuring that IGG is available to prove either guilt or innocence, (5) imposing consequences and fines for violations, and (6) requiring annual public reporting and review to enable informed oversight of IGG methods. However, as of September 2022, these regulations have not been implemented apparently due to lack of resources with these unfunded requirements. 37

Efforts have been made to raise awareness among defense attorneys about how IGG searches can potentially invade people's privacy in unique ways [ 108 ]. Important perspectives on ethical, legal, and social issues have been offered along with directions for future research [ 109 ]. These concerns about data privacy, public trust, proficiency and agency trust, and accountability have led to a call for standards and certification of IGG to address issues raised by privacy scholars, law enforcement agencies, and traditional genealogists [ 110 , 111 ] and for an ethical and privacy assessment framework covering transparency, access criteria, quality assurance, and proportionality [ 112 ].

2.2.4. Genetic privacy and ethical concerns

Two important topics are considered in this section: (1) do the genetic markers used in traditional forensic DNA typing reveal more than identity and therefore potentially impact privacy of the individuals tested? and (2) are samples collected and tested according to ethical principles?

Forensic DNA databases utilize STR markers that were intentionally selected to avoid phenotypic associations. An extensive review of the literature examined 107 articles associating a forensic STR with some genetic trait and found “no demonstration of forensic STR variants directly causing or predicting disease” [ 113 ]. A study of the potential association of 15 STRs and 3 facial characteristics on 721 unrelated Han Chinese individuals also found “scarcely any association between [the] STRs with studied facial characteristics” [ 114 ].

In 2021, the American Type Culture Collection (ATCC) published a standard for authentication of human cell lines using DNA profiling with the 13 CODIS STR markers [ 115 ]. This use of forensic STR markers for biospecimen authentication led a bioethicist and a law professor to write a policy forum article in Science titled “Get law enforcement out of biospecimen authentication” [ 116 ]. The authors of this policy forum believe that using the same genetic markers could potentially: (1) undermine efforts to recruit research participants from historically marginalized and excluded groups that are underrepresented in research, (2) risk drawing law enforcement interest in gaining access to these research data, and (3) impose additional potential harms on already vulnerable populations, particularly children. Instead they advocate for using non-CODIS STRs or a new SNP assay to distinguish biospecimens in repositories, something done recently at the Coriell Institute for Medical Research with six new STR markers [ 117 ]. A responsive letter to the editor regarding this policy forum article expressed that “their proposal could potentially create artificial silos between genomic data in the justice system and in biomedical research, making it inefficient and ultimately counterproductive” [ 118 ]. The authors of the original article responded that “the risk of attracting law enforcement interest to research data increases when the data are available in a recognizable way” [ 119 ].

Modern scientific research seeks to protect the dignity, rights, and welfare of research participants by following ethical requirements. Six forensic science journals over the time period of 2010–2019 were examined for their reporting of ethical approval and informed consent in original research using human or animal subjects [ 120 ]. These journals were Forensic Science International: Genetics , Science & Justice , Journal of Forensic and Legal Medicine , the Australian Journal of Forensic Sciences , Forensic Science International , and the International Journal of Legal Medicine . A total of 3010 studies that described research on human or animal subjects and/or samples were selected from these journals with only 1079 articles (36%) reporting that they had obtained ethical approval and 527 articles (18%) stating that informed consent was sought either by written or verbal agreement. The authors of this study noted that reported compliance with ethical guidelines in forensic science research and publication was below what is considered minimal reporting rates in biomedical research and encouraged widespread adoption of the 2020 guidelines described below [ 120 ].

Guidelines and recommendations for ethnical research on genetics and genomics of biological material were jointly adopted and published in Forensic Science International: Genetics [ 121 ] and Forensic Science International: Reports [ 122 ]. These guidelines utilize the following principles as prerequisites for publication in these two journals as well as the Forensic Science International: Genetics Supplement Series : (1) general ethics principles that are regulated by national boards and represent widely signed international agreements, (2) universal declarations that require implementations in state members, such as the World Medical Association Declaration of Helsinki biomedical research on human subjects, and (3) universal declarations and principles drafted by independent organizations that have been widely adopted by the scientific community. This includes the U.S. Federal Policy for the Protection of Human Subjects (“Common Rule”) that was revised in 2017 (with a compliance date delayed to January 21, 2019). 38

Submitted manuscripts must provide the following supporting documentation to demonstrate compliance with the publication guidelines: (1) ethical approval in the country of [sample] collection by the appropriate local ethical committee or institutional review board, (2) ethical approval in the country of experimental work according to local legislation; if material collection and experimentation are conducted in different countries, both (1) and (2) are required, (3) template of consent forms in the case of human material as approved by the relevant ethical committee, and (4) approved export/import permits as applicable. Authors must declare in their submitted manuscript that these guidelines have been strictly followed [ 121 , 122 ].

Forensic genetic frequency databases, such as the Y-chromosome Haplotype Reference Database (YHRD), have been challenged over the ethics of DNA holdings, specifically of samples originating from the minority Muslim Uyghur population in western China [ 123 , 124 ]. A survey of U.S. state policies on potential law enforcement access to newborn screening samples found that nearly one-third of states permit these samples or their related data to be disclosed to or used by law enforcement and more than 25% of states have no discernible policy in place regarding law enforcement access [ 125 ].

A framework for ethical conduct of forensic scientists as “lived practice” has been proposed, and three case studies were discussed in terms of decision-making processes involving forensic DNA phenotyping and biographical ancestry testing, investigative genetic genealogy, and forensic epigenetics [ 126 ]. An ethos for forensic genetics involving the values of integrity, trustworthiness, and effectiveness has likewise been described [ 127 ].

2.2.5. Sexual assault kit testing

Unsubmitted or untested sexual assault kits (SAKs) may exist in police or laboratory evidence lockers for many years leading to rape kit backlogs that can spark community outrage when discovered. A number of articles have been published in the past three years describing success rates with examining SAKs and the policies surrounding them. For example, an evaluation of 3422 unsubmitted SAKs in Michigan found 1239 that produced a DNA profile eligible for upload into CODIS with 585 yielding a CODIS hit [ 128 ]. In addition, results from a groping and sexual assault case were presented to support the expansion of touch DNA evidence in these types of cases [ 129 ].

To assess success rates in their jurisdiction, the Houston Police Department randomly selected 491 cases of over 6500 previously unsubmitted sexual assault kits [ 130 ]. Of these, 336 cases (68%; 336/491) screened positive for biological evidence; a DNA profile was developed in 270 cases (55%; 270/491) with 213 (43%; 213/491) uploaded to CODIS; and 104 (21% total; 104/491 or 49% of uploaded profiles; 104/213) resulted in a CODIS hit. The statute of limitation had expired in 44% of these CODIS-hit cases, which prohibited arrests and prosecution. Victims were unwilling to participate in a follow-up investigation in another 25% of these cases. When the data were compiled for the publication, charges had been filed in only one CODIS-hit case [ 130 ].

Sexual assault cases can be difficult to prosecute as victims may be re-traumatized when a cold case is reopened. The authors of one study shared: “A key to successful pursuit of cold case sexual assaults is to have a well-crafted victim-notification plan and a victim advocate as part of the investigative team” [ 131 ]. Interviews with eight assistant district attorneys provided important prosecutors’ perspectives on SAK cases, the development of narratives to explain the evidence in a case, and the decision on whether a case should be pursued or what further investigative activities may be needed [ 132 ]. The authors concluded: “Our findings suggest that forensic evidence does not magically lead to criminal justice outcomes by itself, but must be used thoughtfully in conjunction with other evidence as part of a well-considered strategy of investigation and prosecution” [ 132 ].

Discussing a data set from Denver, Colorado where 1200 sexual assault cold cases with testable DNA samples were examined and 600 cases were processed through the laboratory resulting in 97 CODIS hits, 55 arrests and court filings, and 48 convictions, the authors conclude that the cost of the Denver cold case sexual assault program was worth the investment [ 131 ].

From December 2015 to July 2018, the Palm Beach County Sheriff's Office (Florida, USA) researched more than 5500 cases and evaluated evidence from previously untested sexual assault kits spanning a 43-year period at a cost of over $1 million. Of the 1558 sexual assaults examined, there were 686 cases (44%; 686/1558) with CODIS-eligible profiles, 261 CODIS hits, and 5 arrests when the article was written in mid-2019 [ 133 ]. The Palm Beach County Sheriff's Office also helped develop a backlog reduction effort through creating a biological processing laboratory within the Boca Raton Police Services Department [ 134 ]. With this joint effort from 2016 to 2018, the total average turnaround time decreased from 30 days to under 20 days with the 3489 DNA profiles entered into CODIS resulting in 1254 associations and 965 investigations aided. Important takeaway lessons include the value of (1) engaging legal counsel early to outline necessary legal procedures and the timeline, (2) bringing all stakeholders “to the table” early to discuss expectations, as well as legal and operational responsibilities, and (3) creating a realistic timeline with a comprehensive memorandum of understanding so all parties have agreed to their roles and responsibilities [ 134 ].

From 275 previously untested sexual assault kits submitted for DNA testing in one region of Central Brazil, a total of 176 profiles were uploaded to their DNA database resulting in 60 matches (34%; 60/176) and 32 assisted investigations (18%; 32/176) with information about the suspect identity or the connection of serial sexual assaults assigned to the same individual [ 135 ]. Another study from the same region of Brazil examined 2165 cases and noted that 13% (286/2165) had information regarding the victim-offender relationship with 63% (179/286) being stranger-perpetrated rapes and 37% (107/286) being non-stranger [ 136 ]. The authors then summarize: “Hits were detected only with stranger-perpetrated assaults ( n  = 41), which reinforces that DNA databases are fundamental to investigate sexual crimes. Without DNA typing and DNA databases, probably these cases would never be solved” [ 136 ].

Given that laboratories have limited resources and need to prioritize their efforts, some business analytics have been applied to SAK testing. An analysis of the potential societal return on investment (ROI) for processing backlogged, untested SAKs reported a range of 10%–65% ROI depending on the volume of activity for the laboratory conducting the analysis [ 137 ]. An evaluation of data from 868 SAKs tested by the San Francisco Policy Department Criminalistics Laboratory during 2017–2019 found that machine learning algorithms outperformed forensic examiners in flagging potentially probative samples [ 138 ].

An examination of 5165 SAKs collected in Cuyahoga County (Ohio, USA) from 1993 through 2011 found 3099 with DNA of which 2127 produced a CODIS hit, with 803 investigations leading to an indictment and eventually 78 to trial along with 330 pleas [ 139 ]. The authors report a “cost savings to the community of $26.48 million after the inclusion of tangible and intangible costs of future sexual assaults averted through convictions” and advocate for “the cost-effectiveness of investigating no CODIS hit cases and support an ‘investigate all’ approach” [ 139 ]. Likewise an assessment of 900 previously-untested SAKs from Detroit (Michigan, USA) found that “few of the tested variables were significant predictors of CODIS hit rate” and “testing all previously-unsubmitted kits may generate information that is useful to the criminal justice system, while also potentially addressing the institutional betrayal victims experienced when their kits were ignored” [ 140 ].

A group in the Philippines described an integrated system to improve their SAK processing [ 141 ]. With an optimized workflow in Montreal, Canada, SAK processing median turnaround time decreased from 140 days to 45 days with a foreign DNA profile being obtained in 44% of cases [ 142 ]. In addition, this group examined casework data to guide resource allocation through identifying the likelihood of specific types of cases and samples yielding foreign biological material [ 142 ]. Decision trees and logistic regression models were also used to try and predict whether or not SAKs will yield a CODIS-eligible DNA profile [ 143 ]. Finally, direct PCR and rapid DNA approaches to streamline SAK testing were reviewed [ 144 ].

2.3. Forensic biology and body fluid identification

The basic workflow for biological samples in forensic examinations typically involves a visual examination of the evidence, a presumptive and/or confirmatory test for a suspected body fluid (e.g., the amylase assay for saliva), and DNA analysis and interpretation [ 145 ]. Body fluid identification (BFID), in particular with blood, saliva, semen, or vaginal fluid stains, provides valuable evidence in many investigations that can aid in the resolution of a crime [ 146 ]. Many of these BFID tests are presumptive and not nearly as sensitive as modern DNA tests meaning that “obtaining a DNA profile without being able to associate [it] with a body fluid is an increasingly regular occurrence” and “it is necessary and important, especially in the eyes of the law, to be able to say which body fluid that the DNA profile was obtained from” [ 147 ].

A number of approaches are being taken to improve the sensitivity and specificity of BFID in recent years including DNA methylation [ [148] , [149] , [150] , [151] , [152] , [153] , [154] , [155] , [156] , [157] , [158] , [159] , [160] , [161] ], messenger RNA (mRNA) [ [162] , [163] , [164] , [165] , [166] ], microRNA (miRNA) [ 167 ], protein mass spectrometry for seminal fluid detection [ 168 ], and microbiome analysis [ 169 , 170 ]. Although many new techniques are being described in the scientific literature, traditional methods for semen identification are still widely used in regular forensic casework [ 171 ].

When using RNA assays, DNA and RNA are co-extracted from examined samples [ 172 , 173 ]. Some tests may only distinguish between two possible body fluids, such as saliva and vaginal fluid [ 174 ], while other tests may attempt to distinguish six forensically relevant body fluids – vaginal fluid, seminal fluids, sperm cells, saliva, menstrual blood, and peripheral blood – although not always as clearly as desired [ 175 ]. BFID assays must also cope with mixed body fluids [ 176 ].

2.4. DNA collection and extraction

The process of obtaining a DNA profile begins with collecting a biological sample and extracting DNA from it. A review of recent trends and developments in forensic DNA extraction focused on isolating male DNA in sexual assault cases, using portable rapid DNA testing instruments, recovering DNA from difficult samples such as human remains, and bypassing DNA extraction altogether with direct PCR methods [ 177 ].

2.4.1. Touch evidence and fingerprint processing methods

Various studies have explored the compatibility of common fingerprint processing methods with DNA typing results [ [178] , [179] , [180] , [181] , [182] , [183] , [184] , [185] , [186] , [187] , [188] ]. For example, DNA recovery was explored after various steps in three different latent fingerprint processing methods – and fewer treatments were judged preferable with a 1,2-indanedione-zinc (IND/Zn) method appearing least harmful to downstream DNA analysis [ 187 ]. A different study found improved recovery of DNA from cigarette butts following latent fingerprint processing with 1,8-diazafluoren-9-one (DFO) compared to IND/Zn [ 179 ].

DNA losses were quantified with mock fingerprints deposited on four different surfaces to better understand DNA collection and extraction method performance [ 189 ]. The application of Diamond Dye has been shown to enable visualization of cells deposited on surfaces without interfering with subsequent PCR amplification and DNA typing [ [190] , [191] , [192] ].

It was possible to recover DNA profiles from clothing that someone touched for as little as 2 s [ 193 ]. DNA sampling success rates from car seats and steering wheels were studied [ 194 ] and recovery of DNA from vehicle surfaces using different swabs was explored [ 195 ]. In addition, the double-swab technique, where a wipe using a wet swab is followed by a wipe with a dry one, was revisited with an observation that for non-absorbing surfaces, the first web swab yielded 16 times more DNA than the second dry swab [ 196 ]. Swabs of cotton, flocked nylon, and foam reportedly provided equivalent DNA recoveries for smooth/non-absorbing surfaces, and an optimized swabbing technique involving the application of a 60-degree angle and rotating the swab during sampling improved DNA yields for cotton swabs [ 197 ].

2.4.2. Results from unfired and fired cartridge cases

Ammunition needs to be handled to load a weapon and thus DNA from the handler may be deposited onto the ammunition via touch [ 198 ]. Important progress has been made in recovering DNA from ammunition such as unfired cartridges or fired cartridge cases (FCCs) that may remain at a crime scene after a weapon has been fired. Trace quantities of DNA recovered from firearm or FCC surfaces has been used to try and link results to gun-related crimes.

A 2019 review of the literature regarding obtaining successful DNA results from ammunition examined collection techniques, extraction methodologies, and various amplification kits and conditions [ 199 ]. A direct PCR approach detected more STR alleles than methods using DNA extraction, and the authors noted that mixtures are commonly observed from gun surfaces, bullets, and cartridges in both controlled experimental conditions and from actual casework evidence and they encourage careful interpretation of these results [ 200 ]. The development of a crime scene FCC collector was combined with a new DNA recovery method that uses a rinse-and-swab technique [ 201 ].

Research studies and review articles have considered factors affecting DNA recovery from cartridge cases and the impact of metal surfaces on DNA recovery [ [202] , [203] , [204] , [205] , [206] , [207] , [208] , [209] ]. Recovery of mtDNA from unfired ammunition components has been assessed for sequence quality [ 210 ].

2.5. DNA typing

Following collection of DNA evidence and its extraction from biological samples, the typical typing process involves DNA quantitation, PCR amplification of STR markers, and STR typing using capillary electrophoresis. Direct PCR avoids the DNA extraction and quantitation steps, which can improve recovery of trace amounts of DNA [ 211 , 212 ]. Whole genome amplification prior to STR analysis has also been examined to aid recovery of degraded DNA [ 213 ] and to enable profiling of single sperm cells [ 214 ].

PCR amplification using STR typing kits can sometimes produce artifacts that impact DNA interpretation including missing (null) alleles [ 215 ], false tri-allelic patterns [ 216 ] or extra peaks when amplified in the presence of microbial DNA [ [217] , [218] , [219] ].

Applied Biosystems Genetic Analyzers have been the primary means of performing multi-colored capillary electrophoresis for many years [ 4 ]. First experiences with Promega's new Spectrum Compact CE System have recently been reported [ 220 ]. A number of new research and commercial STR kits have been introduced in recent years along with the publication of at least 24 validation studies ( Table 5 ). These validation studies typically follow guidelines outlined by the ENFSI DNA Working Group, 39 SWGDAM 40 , or a 2009 Chinese National Standard. 41

STR kits assessed with 24 published validation studies during 2019–2022.

A report on the first two years of submissions to the STRidER 42 (STRs for Identity ENFSI Reference) database for online allele frequencies revealed that 96% of the submitted 165 autosomal STR datasets generated by CE contained errors, showing the value of centralized quality control and data curation [ 245 ].

2.6. DNA interpretation at the source or sub-source level

The designation of STR alleles and genotypes of contributors in DNA mixtures are key aspects of DNA interpretation [ 246 , 247 ]. Electropherograms generated by CE instruments exhibit both STR alleles and artifacts that complicate data interpretation. Efforts are underway to understand and model instrumental artifacts [ [248] , [249] , [250] , [251] ] as well as biological artifacts of the PCR amplification process such as STR stutter products [ 252 , 253 ]. Machine learning approaches are being applied to classify artifacts versus alleles with the goal to eventually replace manual data interpretation with computer algorithms [ [254] , [255] , [256] , [257] ]. One such program, FaSTR DNA, enables potential artifact peaks from stutter, pull-up, and spikes to be filtered or flagged, and a developmental validation has been published examining 3403 profiles generated with seven different STR kits [ 258 ].

2.6.1. DNA mixture interpretation

Forensic evidence routinely contains contributions from multiple donors, which result in DNA mixtures. A number of approaches have been taken and advances made in DNA mixture interpretation [ 259 ]. These include probabilistic genotyping software [ 15 ], using genetic markers beyond traditional autosomal STR typing [ 260 ], or separating contributor cells and performing single-cell analysis [ [261] , [262] , [263] , [264] , [265] , [266] ].

In June 2021, the National Institute of Standards and Technology (NIST) released a draft report regarding the scientific foundations of DNA mixture interpretation [ 267 ]. This 250-page document described 16 principles that underpin DNA mixture interpretation, provided 25 key takeaways, and cited 528 references. NIST also began a Human Factors Expert Working Group on DNA Interpretation in February 2020 and plans to release a report with recommendations in 2023.

Assessment of the number of contributors (NoC) is a critical element of accurate DNA mixture interpretation. For example, the LRs relating to minor contributors can be reduced when the incorrect number of contributors is assumed [ 268 ]. Allele sharing among contributors to a mixture and masking of alleles due to STR stutter artifacts can lead to inaccurate NoC estimates based on simply counting the number of alleles at a locus. Different approaches and software programs have been used for NoC estimation [ [269] , [270] , [271] , [272] , [273] , [274] , [275] ]. Total allele count (TAC) distribution via TAC curves showed an improvement in manually estimating the number of contributors with complex mixtures [ 276 ]. Sequence analysis of STR loci expands the number of possible alleles compared to CE-based length measurements and thus can improve NoC estimates [ 277 ].

In the past three years, validation studies have been performed with a number of probabilistic genotyping software (PGS) systems including EuroForMix [ 278 ], DNAStatistX [ 279 , 280 ], TrueAllele [ 281 ], STRmix [ 282 ], Statistefix [ 283 ], Mixture Solution [ 284 ], Kongoh [ 285 ], and MaSTR [ 286 , 287 ]. Developers of EuroForMix, DNAStatistX, and STRmix provided a review of these systems [ 288 ]. Multi-laboratory assessments have been described [ 289 , 290 ] and likelihood ratios obtained from EuroForMix and STRmix compared [ [291] , [292] , [293] , [294] ]. With a growing literature in this area, there are many other articles that could have been cited.

2.7. DNA interpretation at the activity level

DNA interpretation at the source or sub-source level helps to answer the question of who deposited the cell material, whether attribution for the result can be made to a specific cell type (i.e., source level) or simply to the DNA if no attribution can be made to a specific cell type (i.e., sub-source level). Activity-level propositions seek to answer the question of how did an individual's cell material get there. Interpretation at the activity level is sometimes referred to as evaluative reporting [ 295 , 296 ].

In 2020, the ISFG DNA Commission [ 38 ] discussed the why, when, and how to carry out evaluative reporting given activity level propositions through providing examples of formulating these propositions. These Commission recommendations emphasize that reports using a likelihood ratio based on case-specific propositions and relevant conditioning information should highlight the assumptions being made and that “it is not valid to carry over a likelihood ratio from a low level, such as sub-source, to a higher level such as source or activity propositions … because the LRs given sub-source level propositions are often very high and LRs given activity level propositions will often be many orders of magnitude lower” [ 38 ]. Another recommendation specifies that “scientists must not give their opinion on what is the ‘most likely way of transfer’ (direct or indirect), as this would amount to giving an opinion on the activities and result in a prosecutor's fallacy (i.e., give the probability that X is true). The scientists' role is to assess the value of the results if each proposition is true in accordance with the likelihood ratio framework (the probability of the results if X is true and if Y is true)” [ 38 ] (emphasis in the original). This DNA Commission provided 11 recommendations and 4 considerations that should be studied carefully by those who implement activity-level DNA interpretation.

2.7.1. DNA transfer and persistence studies

To evaluate DNA findings given activity-level propositions it is important to understand the factors and variables that may impact DNA transfer, persistence, prevalence, and recovery (DNA-TPPR). These factors include history of contacting surfaces, biological material type, quantity and quality of DNA, dryness of biological material, manner and duration of contact, number and order of contacts, substrate type(s), time lapses and environment, and methods and thresholds used in the forensic DNA laboratory to generate the available data [ 297 ].

Three valuable review articles were published on this topic in 2019 [ 14 , 28 , 299 ]. Following a comprehensive January 2019 review that cited [ 298 ] references on DNA-TPPR [ 14 ], the same authors provided an update in November 2021 on recent progress towards meeting challenges and a synopsis of 144 relevant articles published between January 2018 and March 2021 [ 297 ]. While few studies provide the information needed to help assign probabilities of obtaining DNA results given specific sets of circumstances, progress includes use of Bayesian Networks [ 300 ] to identify variables for complex transfer scenarios [ 38 , [301] , [302] , [303] , [304] , [305] ] as well as development of an online database DNA-TrAC 43 for relevant research articles [ 299 ] and a structured knowledge base 44 with information to help practitioners interpret general transfer events at an activity level [ 306 ].

Forensic DNA pioneer Peter Gill emphasized that awareness of the limitations of DNA evidence is important for users of this data given that an increased sensitivity of modern DNA methods means that DNA may be recovered that is irrelevant to the crime under investigation [ 307 ]. An ISFG DNA Commission (see Section 1.2.5 ) emphasized that the strength of evidence associated with a DNA match at the sub-source level cannot be carried over to activity level propositions [ 38 ]. Structuring case details into propositions, assumptions, and undisputed case information has been encouraged [ 308 ].

Factors affecting variability of DNA recovery on firearms were studied with four realistic, casework-relevant handling scenarios along with results obtained including DNA quantities, number of contributors, and relative profile contributions for known and unknown contributors [ 309 ]. These studies found that sampling several smaller surfaces on a firearm and including the sampling location in the evaluation process can be helpful in assessing results given alternative activity-level propositions in gun-related crimes. The authors recommend that “further extensive, detailed and systematic DNA transfer studies are needed to acquire the knowledge required for reliable activity-level evaluations” [ 309 ].

Other recent studies on DNA-TPPR include examining prevalence and persistence of DNA or saliva from car drivers and passengers [ [310] , [311] , [312] ], evaluation of DNA from regularly-used knives after a brief use by someone else [ 313 ], studying the accumulation of endogenous and exogenous DNA on hands [ 314 ] and non-self-DNA on the neck [ 315 ], considering the potential of DNA transfer via work gloves [ 316 , 317 ] or during lock picking [ 318 ], and investigating whether DNA can be recovered from illicit drug capsules [ 319 , 320 ] or packaging [ 321 ] to identify those individuals preparing or handling the drugs.

Efforts have been made to estimate the quantity of DNA transferred in primary versus secondary transfer scenarios [ 322 ]. As quantities of DNA transferred can be highly variable and thought to be dependent on the so-called “shedder status” – how much DNA an individual exudes, several studies explored this topic [ [323] , [324] , [325] , [326] , [327] ]. Studies have also considered the level of DNA an individual transfers to untouched items in their immediate surroundings [ 328 ], the position and level of DNA transferred during digital sexual assault [ 329 ] or during various activities with worn upper garments [ 330 , 331 ], and the DNA composition on the surface of evidence bags pre- and post-exhibit examination [ 332 ]. Studies assessing background levels of male DNA on underpants worn by females [ 333 ] and background levels of DNA on flooring within houses [ 334 ] are providing important knowledge about the possibilities and probabilities of DNA transfer and persistence.

The authors of one study summarize some key points that could be extended to many other studies as words of caution: “From a wider trace DNA point of view, this study has demonstrated that the person who most recently handled an item may not be the major contributor and someone who handled an item for longer may still not be the major contributor if they remove more DNA than they deposit. The amount of DNA transferred and retained on an item is highly variable between individuals and even within the same individual between replicates” [ 320 ].

3. Emerging technologies, research studies, and other topics

New technologies to aid forensic DNA typing are constantly under development. This section explores recent activities with next-generation DNA sequencing, DNA phenotyping for estimating a sample donor's age, ancestry, and appearance, lineage markers, other markers and approaches, and non-human DNA and wildlife forensics, and is expected to be of value to researchers and those practitioners looking to future directions in the field.

3.1. Next-generation sequencing

Next-generation sequencing (NGS), also known as massively parallel sequencing (MPS) in the forensic DNA community, expands the measurement capabilities and information content of a DNA sample beyond the traditional length-based results with STR markers obtained with capillary electrophoresis (CE) methods. Additional genetic markers, such as single nucleotide polymorphisms (SNPs), microhaplotypes, and mitochondrial genome (mtGenome) sequence, may be analyzed along with the full sequence of STR alleles. This higher information content per sample opens up new potential applications such as phenotyping of externally visible characteristics and biogeographical ancestry as described in review articles [ 335 , 336 ].

As mentioned in Section 1.2.1 , the NIJ Forensic Laboratory Needs Technology Working Group (FLN-TWG) published a 29-page implementation strategy on next-generation sequencing for DNA analysis in September 2021 [ 28 ]. This guide discusses how NGS works and its advantages and disadvantages, the various instrument platforms and commercial kits available with approximate costs, items to consider regarding facilities, data storage, and personnel training, and resources for implementing NGS technology. A total of 73% of 105 forensic DNA laboratories surveyed from 32 European countries already own an MPS platform or plan to acquire one in the next year or two and one-third of the survey participants already conduct MPS-based STR sequencing, identity, or ancestry SNP typing [ 337 ].

Validation studies have been described with the ForenSeq DNA Signature Prep kit and the MiSeq FGx system [ [338] , [339] , [340] ], with the Verogen ForenSeq Primer Mix B for phenotyping and biogeographical ancestry predictions [ 341 , 342 ], and for resizing reaction volumes with the ForenSeq DNA Signature Prep kit library preparation [ 343 ]. MPS sequence data showed excellent allele concordance with CE results for 31 autosomal STRs in the Precision ID GlobalFiler NGS STR Panel from 496 Spanish individuals [ 344 ] and from 22 autosomal STR loci in the PowerSeq 46GY panel with 247 Austrians [ 345 ].

STR flanking region sequence variation has been explored [ 346 ] and reports of population data and sequence variation were published for samples from India [ 347 ], France [ 348 ], China [ 349 , 350 ], Korea [ 351 ], Brazil [ 352 ], Tibet [ 353 ], and the United States [ 354 ].

In April 2019 the STRAND ( S hort T andem R epeat: A lign, N ame, D efine) Working Group was formalized [ 355 ] to consider several possible approaches to sequence-based STR nomenclature that have been proposed [ 356 , 357 ]. An overview of software options has been provided for analysis of forensic sequencing data [ 358 ]. Some recent published options include STRinNGS [ 359 ], STRait Razor [ 360 ], ArmedXpert tools MixtureAce and Mixture Interpretation to analyze MPS-STR data [ 361 ], and STRsearch for targeted profiling of STRs in MPS data [ 362 ]. To aid interpretation of MPS-STR data, sensitivity studies were performed with single-source samples and sequence data analyzed by DNA quantity and method used [ 363 ]. A procedure has been described to address calculation of match probabilities when results are generated using MPS kits with different trim sites than those present in the relevant population frequency database [ 364 ]. Performance of different MPS kits, markers, or methods can be compared for accuracy and precision using the Levenshtein distance metric [ 365 ].

Novel MPS STR and SNP panels developed in recent years include IdPrism [ 366 ], a QIAGEN 140-locus SNP panel [ 367 ], the 21plex monSTR identity panel [ 368 ], a 42plex STR NGS panel to assist with kinship analysis [ 369 ], the 5422 marker FORCE (FORensic Capture Enrichment) panel [ 370 ], a forensic panel with 186 SNPs and 123 STRs [ 371 ], the SifaMPS panel for targeting 87 STRs and 294 SNPs [ 372 ], a 1245 SNP panel [ 373 ], 90 STRs and 100 SNPs for application with kinship cases [ 374 ], an adaption of the SNPforID 52plex panel to MPS [ 375 ], 448plex SNP panel [ 376 ], a 133plex panel with 52 autosomal and 81 Y-chromosome STRs [ 377 ], and a forensic identification multiplex with 1270 tri-allelic SNPs involving 1241 autosomal and 29 X-chromosome markers [ 378 ]. The 124 SNPs in the Precision ID Identity Panel were examined in a central Indian population [ 379 ] and human leukocyte antigen (HLA) alleles used in the early 1990s were revisited with MPS capability [ [380] , [381] , [382] ].

MPS methods have demonstrated utility with compromised samples [ [383] , [384] , [385] , [386] , [387] , [388] ] and mixture interpretation [ [389] , [390] , [391] , [392] , [393] , [394] , [395] ]. Microhaplotype assays have also been developed to assist with DNA mixture deconvolution [ 396 , 397 ]. Collaborative studies have explored variability with laboratory performance using MPS methods [ 398 , 399 ]. Population structure [ 400 ] and linkage and linkage disequilibrium [ 401 ] were examined among the markers in forensic MPS panels.

A review of transcriptome analysis using MPS discussed efforts with body fluid and tissue identification, determination of the time since deposition of stains and the age of donors, the estimation of post-mortem interval, and assistance to post-mortem death investigations [ 402 ]. The potential for MPS methods to assist with environmental trace analysis was reviewed in terms of forensic soil analysis, forensic botany, and human identification utilizing the skin microbiome [ 403 ]. The possibility of non-invasive prenatal paternity testing using cell-free fetal DNA from maternal plasma was explored with the Precision ID Identity Panel [ 404 ] and the ForenSeq DNA Signature Prep Kit [ 405 ]. Pairwise kinship analysis was also examined using the ForenSeq DNA Signature Prep Kit and multi-generational family pedigrees [ 406 , 407 ]. Nanopore sequencing has also been explored for sequencing STR and SNP markers [ [408] , [409] , [410] , [411] , [412] , [413] , [414] , [415] , [416] ].

3.2. DNA phenotyping (ancestry, appearance, age)

Continuing research into the genetic components of biogeographic ancestry, appearance, and age predictions have improved forensic DNA phenotyping capabilities [ 417 ]. These forensic innovations may sometimes impact public expectations [ 418 ]. The investigation in a murder case was assisted using information from forensic DNA phenotyping that predicted eye, hair, and skin color of an unknown suspect with the HIrisPlex-S system involving targeted massively parallel sequencing [ 419 ].

The VISAGE ( Vis ible A ttributes Through Ge nomics) Consortium, which consists of 13 partners from academic, police, and justice institutions in 8 European countries, has established new scientific knowledge and developed and tested prototype tools for DNA analysis and statistical interpretation as well as conducted education for stakeholders. In the 2019 to 2022 time window of this review, this concerted effort produced 45 one review article [ 417 ], 22 original research publications [ 337 , [420] , [421] , [422] , [423] , [424] , [425] , [426] , [427] , [428] , [429] , [430] , [431] , [432] , [433] , [434] , [435] , [436] , [437] , [438] , [439] , [440] ], and three reports [ [441] , [442] , [443] ].

DNA phenotyping is currently an active area of research, and numerous activities and publications exist beyond the VISAGE articles noted here. Another 137 articles have appeared in the literature in the past three years on biogeographical ancestry, appearance (primarily hair color, eye color, and skin color), and biological age predictions (typically utilizing DNA methylation) (see Supplemental File ).

3.3. Lineage markers (Y-chromosome, mtDNA, X-chromosome)

Lineage markers consist of Y-chromosome, mitochondrial DNA, and X-chromosome genetic information that may be inherited from just one parent without the regular recombination that occurs with autosomal DNA markers. Research in terms of new markers, assays, and population studies continue to be published for these lineage markers.

3.3.1. Y-chromosome

Several recent review articles were published on forensic applications of Y-chromosome testing [ [444] , [445] , [446] ]. As discussed previously in Section 1.2 , an ISFG DNA Commission summarized the state of the field with Y-STR interpretation [ 39 ]. Rapidly mutating Y-STR loci can be used to differentiate closely related males [ [447] , [448] , [449] ]. New statistical approaches to assessing evidence with Y-chromosome information have been described [ 450 , 451 ]. Four commercial Y-STR multiplexes were compared with the NIST 1032 U S. population sample set and the allele and haplotype diversities explored with length-based versus sequence-based information [ 452 ].

A number of Y-STR typing systems have been described along with validation studies, such as a 36plex [ 453 ], a 41plex [ 454 ], a 29plex [ 455 ], a 17plex [ 456 ], a 24plex [ 457 ], the Microreader 40Y ID System [ 458 ], the 24 Y-STRs in the AGCU Y SUPP STR kit [ 459 ], the DNATyper Y26 PCR amplification kit [ 460 ], a multiplex with 12 multicopy Y-STR loci [ 461 ], the Yfiler Platinum PCR Amplification Kit [ 462 ], a 45plex [ 463 ], the Microreader 29Y Prime ID system [ 464 ], an assay with 30 slow and moderate mutation Y-STR markers [ 465 ], the 17plex Microreader RM-Y ID System [ 466 ], and a 26plex for rapidly mutating Y-STRs [ 467 ]. A machine learning program predicted Y haplogroups using two Y-STR multiplexes with 32 Y-STRs [ 468 ].

Deletions and duplications with 42 Y-STR were reported in a sample of 1420 unrelated males and 1160 father-son pairs from a Chinese Han population [ 469 ]. Using Y-STR allele sequences has enabled locating parallel mutations in deep-rooting family pedigrees [ 470 ]. The surname match frequency with Y-chromosome haplotypes was explored using 2401 males genotyped for 46 Y-STRs and 183 Y-SNPs [ 471 ]. In the Y-chromosome's role as a valuable kinship indicator to assist in genetic genealogy and forensic research, models to improve prediction of the time to the most recent common paternal ancestor have been studied with 46 Y-STRs and 1120 biologically related genealogical pairs [ 472 ]. A massively parallel sequencing tool was developed to analyze 859 Y-SNPs to infer 640 Y haplogroups [ 473 ]. Another MPS tool, the CSYseq panel, targeted 15,611 Y-SNPs to categorize 1443 Y-sub-haplogroup lineages worldwide along with 202 Y-STRs including 81 slow, 68 moderate, 27 fast, and 26 rapidly mutating Y-STRs to individualize close paternal relatives [ 474 ].

3.3.2. Mitochondrial DNA

Mitochondrial DNA (mtDNA), which is maternally inherited with a high copy number per cell, can aid human identification, missing persons investigations, and challenging forensic specimens containing low quantities of nuclear DNA such as hair shafts [ [475] , [476] , [477] ]. Validation studies have been published using traditional Sanger sequencing [ 478 ] and next-generation sequencing [ [479] , [480] , [481] ]. Illumina and Thermo Fisher now provide mtDNA whole genome NGS assays [ [482] , [483] , [484] , [485] ]. Many mtDNA population data sets were published in the past three years including high-quality data from U.S. populations [ 486 ]. The suitability of current mtDNA interpretation guidelines for whole mtDNA genome (mtGenome) comparisons has been evaluated [ 487 ].

NGS methods have increased sensitivity of mtDNA heteroplasmy detection [ 488 , 489 ], which can influence the ability to connect buccal reference samples and rootless hairs from the same individual [ 490 , 491 ]. Twelve polymerases were compared in terms of mtDNA amplification yields from challenging hairs – with KAPA HiFi HotStart and PrimeSTR HS outperforming AmpliTaq Gold DNA polymerase that is widely used in forensic laboratories [ 492 ]. Multiple studies and review articles have discussed distinguishing mtDNA from nuclear DNA elements of mtDNA (NUMTs) that have been inserted into our nuclear DNA [ [493] , [494] , [495] , [496] ].

NGS sequencing of the mtGenome has permitted improved resolution of the most common West Eurasian mtDNA control region haplotype [ 497 ]. Phylogenetic alignment and haplogroup classification have continued to be refined with new sequence information [ 498 ], and new assays have been developed to aid haplogroup classification [ 499 ]. Concerns over potential paternal inheritance of mtDNA have also been addressed [ 500 , 501 ].

3.3.3. X-chromosome

A 20-year review of X-chromosome use in forensic genetics examined the number and types of markers available, an overview of worldwide population data, the use of X-chromosome markers in complex kinship testing, mutation studies, current weaknesses, and future prospects [ 502 ]. One example of the forensic application of X-chromosome markers include use in relationship testing cases involving suspicion of incest or paternity without a maternal sample for comparison [ 503 ]. Four new X-STR multiplex assays were described along with validation studies including a 19plex [ 504 ], a 16plex [ 505 ], another 19plex – the Microreader 19X Direct ID System [ 506 ], and an 18plex named TYPER-X19 multiplex assay [ 507 ]. A collaborative study examined paternal and maternal mutations in X-STR markers [ 508 ]. A software program for performing population statistics on X-STR data was introduced [ 509 ] and sequence-based U.S. population data described for 7 X-STR loci [ 510 ].

3.4. New markers and approaches (microhaplotypes, InDels, proteomics, human microbiome)

In this section on new markers and approaches, publications related to microhaplotypes and insertion/deletion (InDel, or DIP for deletion insertion polymorphisms) markers are reviewed along with proteomic and microbiome approaches to supplement standard human DNA typing methods.

3.4.1. Microhaplotypes

Microhaplotype (MH) markers consist of multiple SNPs in close proximity (e.g., typically <200 bp or <300 bp) that can be simultaneously genotyped with each DNA sequence read using NGS. Two or more linked SNPs will define three or more haplotypes. Compared to STR markers, MHs do not have stutter artifacts (which complicate mixture interpretation), can be designed with shorter amplicon lengths in some cases (which benefits recovery of genetic information from degraded DNA samples), possess a higher degree of polymorphism compared to single SNP loci (which benefits discrimination power), and exhibit low mutation rates (which enables relationship testing and biogeographical ancestry inference). Thus, MH markers bring advantages to human identification, ancestry inference, kinship analysis, and mixture deconvolution to potentially assist missing person investigations, relationship testing, and forensic casework as discussed in several recent reviews [ 16 , 511 ]. A new database, MicroHapDB, has compiled information on over 400 published MH markers and frequency data from 26 global population groups [ 512 ].

A number of MH panels have been described [ [513] , [514] , [515] , [516] , [517] , [518] , [519] ]. Population data has been collected from a number of sources around the world including four U.S. population groups examined with a 74plex assay with 74 MH loci and 230 SNPs [ 520 ]. Various MH panels have been evaluated for effectiveness with kinship analysis [ [521] , [522] , [523] ]. Likewise the ability to detect minor contributors in DNA mixtures has been assessed [ [524] , [525] , [526] ].

3.4.2. InDel markers

InDel markers can be detected using a CE-based length analysis, and thus use instrumentation that forensic DNA laboratories already have. InDels can also be designed to amplify short DNA fragments (e.g., <125 bp) to help improve amplification success rates with low DNA quantity and/or quality. However, with only two possible alleles like SNPs, InDels are not as polymorphic as STRs and thus require more markers to obtain similar powers of discrimination as multi-allelic STR markers and do not work as well with mixed DNA samples. InDels possess a lower mutation rate than STRs and can be used as ancestry informative markers (AIMs) since allele frequencies may differ among geographically separated population groups.

Two commercial InDel kit exist: (1) Investigator DIPlex (QIAGEN, Hilden, Germany) with 30 InDels [ [527] , [528] , [529] , [530] , [531] ] and (2) InnoTyper 21 (InnoGenomics, New Orleans, Louisiana, USA) with 21 autosomal insertion-null (INNUL) markers [ [532] , [533] , [534] , [535] ]. In addition, a number of InDel assays have been published including a 32plex [ 536 ], a 35plex [ 537 ], a 38plex [ 538 ], a 39plex with AIMs [ 539 ], a 43plex [ 540 ], a 57plex [ 541 ], a 60plex with 57 autosomal InDels, 2 Y-chromosome InDels, and amelogenin [ 542 ], a 32plex with X-chromosome InDels [ 543 ], and a 21plex with AIMs [ 544 ].

A multi-InDel marker is a specific DNA fragment with more than one InDel marker located tightly in the physical position that provides a microhaplotype [ 545 ]. Several multi-InDel assays have been published include a 12plex [ 546 ] and an 18plex [ 547 ].

3.4.3. Proteomics

Protein analysis, often through immunological assays, has traditionally been used to identify body fluids and tissues. With improvements in protein mass spectrometry in recent years, genetic variation can be observed in hair shafts via single amino acid polymorphisms. Detection of these genetically variant peptides (GVPs) can infer the presence of corresponding SNP alleles in the genome of the individual who is the source of the protein sample. A thorough review of forensic proteomics in 2021 cited 375 references [ 18 ]. Recent efforts in this area have focused on using GVPs to differentiate individuals through their human skin cells [ [548] , [549] , [550] ] or hair samples [ [551] , [552] , [553] , [554] , [555] , [556] , [557] , [558] , [559] ]. An algorithm has been proposed for calculating random match probabilities with GVP information [ 560 ].

3.4.4. Human microbiome

Microorganisms live in and on the human body, and efforts are underway to utilize the human microbiome for a variety of potential forensic applications [ 21 , [561] , [562] , [563] ]. There are also active efforts with analysis of microbiomes in the environment (e.g., soil or water samples), which could be classified under non-human DNA testing. Forensic microbiome research covers at least six areas: (1) individual identification, (2) tissue/body fluid identification, (3) geolocation, (4) time since stain deposition estimation, (5) forensic medicine, and (6) post-mortem interval (PMI) estimation. Biological, technical, and data issues have been raised and potential solutions explored in a recent review article [ 21 ]. For example, microbes on deceased individuals are being studied to estimate the postmortem interval [ 20 ] and postmortem skin microbiomes were found to be stable during repeated sampling up to 60 h postmortem [ 564 ].

Sequence analysis of 16S rRNA using NGS provides information on the microbiome community present in a tested sample [ 565 ]. The Forensic Microbiome Database 46 correlates publicly available 16S rRNA sequence data as a community resource. If the skin microbiome is extremely diverse among individuals, then the potential exists to associate the bacterial communities on an individual's skin with objects touched by this individual assuming that the bacteria originating from the donor's skin are deposited (i.e., transfer to and persist on the surface) and can be detected and interpreted.

Specific aspects of the microbiome (e.g., the bacterial community) may be able to provide details about the donor through bacterial profiling. For example, in one study correlations were observed between the bacterial profile and gender, ethnicity, diet type, and hand sanitizer used [ 566 ]. Another study with 30 individuals found that each person left behind microbial signatures that could be used to track interaction with various surfaces within a building, but the authors concluded “we believe the human microbiome, while having some potential value as a trace evidence marker for forensic analysis, is currently under-developed and unable to provide the level of security, specificity and accuracy required for a forensic tool” [ 565 ].

Direct and indirect transfer of microbiomes between individuals has been studied [ 567 , 568 ] along with identifying background microbiomes [ 569 ] and the possibility of transfer of microbiomes within a forensic laboratory setting [ 570 ]. Changes in four bacterial species in saliva stains were charted, showing that it was possible to correctly predict deposition time within one week in 80% of the stains [ 571 ]. The ability to detect sexual contact has been explored through using the microbiome of the pubic region [ [572] , [573] , [574] ]. The microbiomes on skin, saliva, vaginal fluid, and stool samples have been compared [ 575 ]. The stability, diversity, and individualization of the human skin virome was explored with 59 viral biomarkers being found that differed across the 42 individuals studied [ 576 ]. It will be interesting to see what the future holds and what other findings come from this active area of research.

3.5. Kinship analysis, human identification, and disaster victim identification

Kinship analysis, which uses genetic markers and statistics to evaluate the potential for specific biological relationships, is important for parentage testing, disaster victim identification (DVI), and human identification of remains that may be recovered in missing person cases. New open-source software programs have been described that can assist with kinship analysis [ 577 , 578 ].

A potential biological relationship is commonly evaluated using a likelihood ratio (LR) by comparing the likelihoods of observing the genetic data given two alternative hypotheses, such as (1) an individual is related to another individual in a defined relationship versus (2) the two individuals not related. Higher LR values indicate stronger support with the genetic data if the proposed relationship is true. Multiple factors influence LR kinship calculations including the specific hypotheses, the genetic markers examined, the allele frequencies of the relevant population(s), the co-ancestry coefficient applied, and approaches to address potential mutations. STR genotypes were reported for 11 population groups used by the FBI Laboratory [ 579 ]. The status quo has been challenged in recent articles regarding how hypotheses are commonly established [ 580 ] and whether race-specific U.S. population databases should be used for allele frequency calculations [ 581 ].

Depending on the relationship being explored, information can be optimized through genetic information from additional known relatives or through collecting results at more loci [ 582 ]. Potential error rates have been modeled with the observation that false negatives, which occur when related individuals are misinterpreted as being unrelated, are more common than false positives, where unrelated people are interpreted as being related [ 583 ]. While LRs are generally reliable in detecting or confirming parent/child pairs, limitations of kinship determinations exist (e.g., distinguishing siblings from half-siblings) when using STR data [ 584 ].

Pairwise comparisons have been studied in forensic kinship analysis [ [585] , [586] , [587] ]. The effectiveness of 40 STRs plus 91 SNPs was shown to be better than 27 STRs and 91 SNPs or 40 STRs alone [ 588 ]. Only a minor increase in LRs was observed when taking NGS-generated allele sequence variation rather than fragment length allele variation [ 589 ]. The statistical power of exclusion and inclusion can be used to prioritize family members selected for testing in resolving missing person cases [ 590 ]. A strategy for making decisions when facing low statistical power in missing person and DVI cases was published [ 591 ].

The most challenging kinship cases involve efforts to separate pairs of individuals who are typically thought to be genetically indistinguishable (i.e., monozygotic twins) or distant relatives (e.g., fourth cousins) where there is an increased uncertainty in the possible relationship. In some situations, somatic mutations may permit distinguishing monozygotic twins following whole genome sequencing – and this approach was successful in four of six cases reported recently [ 19 ]. The probative value of NGS data for distinguishing monozygotic twins was explored [ 592 ]. A unique case of heteropaternal twinning was reported where opposite-sex twins apparently had different fathers [ 593 ]. An impressive effort in kinship analysis using direct-to-consumer genetic genealogy information from 56 living descendants of multiple genealogical lineages helped resolve a contested paternity case from over a century and a half ago to identify the biological father of Josephine Lyon [ 594 ].

Techniques for identification of human remains continue to improve particularly with the capabilities of NGS and hybridization capture [ 595 ] and ancient DNA extraction protocols [ 596 , 597 ]. Studies have reported variation in skeletal DNA preservation [ 598 ] and retrospectively considered success rates with compromised human remains [ 599 ].

A simulated airplane crash enabled six forensic laboratories in Switzerland to gain valuable DVI experience with kinship cases of varying complexity [ 600 ]. The ISFG Spanish-Portuguese Speaking Working Group likewise conducted a DVI collaborative exercise with a simulated airplane crash to explore fragment re-associations, victim identification through kinship analysis, coping with related victims, handling mutations or insufficient number of family references, working in a Bayesian framework, and the correct use of DVI software [ 601 ]. Other groups have explored the capability of a particular software tool [ 602 ] or implemented rapid DNA analysis to accelerate victim identification [ 603 ]. The International Commission on Missing Persons (ICMP) has gained considerable experience with DNA extraction and STR amplification from degraded skeletal remains and kinship matching procedures in large databases [ 604 ]. To supplement the INTERPOL DVI Guide, 47 some lessons learned and experienced-based recommendations for DVI operations have recently been provided [ 605 ].

3.6. Non-human DNA testing and wildlife forensics

Non-human biological evidence may inform criminal investigations when animals or plants are victims or perpetrators of crime or the presence of specific material, such as cat or dog hair, may contribute to reconstructing events at a crime scene. Non-human DNA testing includes wildlife forensics and domestic animal species as well as forensic botany and has many commonalities and some important differences compared to human DNA testing [ [606] , [607] , [608] , [609] , [610] ]. Pollen analysis can assist criminal investigations [ 611 , 612 ]. The potential for and the barriers associated with the wider application of forensic botany in civil proceedings and criminal cases have been examined [ 613 , 614 ].

Mammalian species identification can assist in determining the origins of non-human biological material found at crime scenes through narrowing the range of possibilities [ 615 ]. New sequencing methods have been developed to assist species identification [ 616 ]. A multiplex PCR assay was developed to simultaneously identify 22 mammalian species (alpaca, Asiatic black bear, Bactrian camel, brown rat, cat, cow, common raccoon, dog, European rabbit, goat, horse, house mouse, human, Japanese badger, Japanese wild boar, masked palm civet, pig, raccoon dog, red fox, sheep, Siberian weasel, and sika deer) and four poultry species (chicken, domestic turkey, Japanese quail, and mallard) [ 617 ]. A number of other species identification assays have also been reported [ [618] , [619] , [620] ].

An important effort for harmonizing canine DNA analysis is an ISFG working group known as the Canine DNA Profiling Group, or CaDNAP. 48 The CaDNAP group published an analysis of 13 STR markers in 1184 dogs from Germany, Austria, and Switzerland [ 621 ]. Six traits for predicting visible characteristics in dogs, namely coat color, coat pattern, coat structure, body size, ear shape, and tail length, were explored with 15 SNPs and six InDel markers [ 622 ]. Canine breed classification and skeletal phenotype prediction has been explored using various genetic markers [ 623 ]. A novel assay using a feline leukemia virus was developed to demonstrate that a contested bobcat was not a domestic cat hybrid [ 624 ] and a core panel of 101 SNP markers was selected for domestic cat parentage verification and identification [ 625 ].

DNA tests have been developed to assist with illegal trafficking investigations involving elephant ivory seizures [ 626 ], falcons [ 627 ], and precious coral material [ 628 ]. Accuracy in animal forensic genetic testing was explored with interlaboratory assessments performed in 2016 and 2018 [ 629 ]. A collaborative exercise conducted in 2020 and 2021 by the ISFG Italian Speaking Working Group examined performance across 21 laboratories with a 13-locus STR marker test for Cannabis sativa [ 630 ]. A molecular approach was explored to distinguish drug-type versus fiber-type hemp varieties [ 631 ].

Acknowledgments and disclaimer

I am grateful to Dominique Saint-Dizier from the French National Scientific Police for the invitation and opportunity to conduct this review and for the support of my supervisor, Shyam Sunder, for granting the time to work on this extensive review. Input and suggestions on this manuscript by Todd Bille, Thomas Callaghan, Kevin Kiesler, François-Xavier Laurent, Robert Ramotowski, Kathy Sharpless, and Robert Thompson are greatly appreciated. Certain commercial entities, equipment, or materials may be identified in this document in order to describe an experimental procedure or concept adequately. Such identification is not intended to imply recommendation or endorsement by the National Institute of Standards and Technology, nor is it intended to imply that the entities, materials, or equipment are necessarily the best available for the purpose.

1 https://www.sciencedirect.com/journal/forensic-science-international-genetics/special-issue/10TSDS4360H .

2 https://www.mdpi.com/journal/genes/special_issues/Forensic_Genetic .

3 https://www.mdpi.com/journal/genes/special_issues/forensic_mitochondrial_genomics .

4 https://www.mdpi.com/journal/genes/special_issues/Advances_Forensic_Genetics .

5 https://www.mdpi.com/books/pdfdownload/book/5798 .

6 https://www.mdpi.com/journal/genes/special_issues/Bioinformatics_Forensic_Genetics .

7 https://www.mdpi.com/journal/genes/special_issues/genetics_anthropology .

8 https://www.mdpi.com/journal/genes/special_issues/Identification_of_Human_Remains .

9 https://www.mdpi.com/journal/genes/special_issues/Forensic_DNA_analysis .

10 https://www.mdpi.com/journal/genes/special_issues/Forensic_DNA_Mixture .

11 https://www.mdpi.com/journal/genes/special_issues/28FBA0G4DH .

12 See https://www.swgdam.org/ .

13 https://www.swgdam.org/publications .

14 https://www.fbi.gov/file-repository/rapid-dna-guide-january-2022.pdf/view .

15 https://www.fbi.gov/file-repository/non-codis-rapid-dna-best-practices-092419.pdf/view .

16 https://www.fbi.gov/file-repository/rapid-dna-testing-for-non-codis-uses-considerations-for-court-073120.pdf/view .

17 https://www.justice.gov/olp/uniform-language-testimony-and-reports .

18 https://forensiccoe.org/human_factors_forensic_science_sourcebook/ .

19 https://www.nist.gov/organization-scientific-area-committees-forensic-science .

20 https://www.nist.gov/organization-scientific-area-committees-forensic-science/human-forensic-biology-subcommittee .

21 https://www.nist.gov/topics/organization-scientific-area-committees-forensic-science/wildlife-forensics-subcommittee .

22 https://www.aafs.org/academy-standards-board .

23 https://www.nist.gov/organization-scientific-area-committees-forensic-science/osac-registry .

24 See https://www.nist.gov/organization-scientific-area-committees-forensic-science/human-forensic-biology-subcommittee .

25 https://lexicon.forensicosac.org/ .

26 https://www.nist.gov/osac/human-factors-validation-and-performance-testing-forensic-science .

27 https://www.nist.gov/organization-scientific-area-committees-forensic-science/osac-research-and-development-needs .

28 https://www.gov.uk/government/publications/forensic-science-providers-codes-of-practice-and-conduct-2021-issue-7 .

29 https://www.aabb.org/standards-accreditation/standards/relationship-testing-laboratories .

30 https://www.isfg.org/DNA+Commission .

31 Previously available rapid DNA systems included the RapidHIT 200 from IntegenX and MiDAS (Miniaturized integrated DNA Analysis System) from the Center for Applied NanoBioscience at the University of Arizona.

32 See https://le.fbi.gov/science-and-lab-resources/biometrics-and-fingerprints/codis/rapid-dna .

33 See https://www.interpol.int/How-we-work/Forensics/DNA .

34 See https://www.interpol.int/How-we-work/Forensics/I-Familia .

35 See https://le.fbi.gov/science-and-lab-resources/biometrics-and-fingerprints/codis#Familial-Searching .

36 See https://isogg.org/wiki/Autosomal_DNA_testing_comparison_chart .

37 See https://www.wmar2news.com/infocus/maryland-quietly-shelves-parts-of-genealogy-privacy-law .

38 See https://www.hhs.gov/ohrp/regulations-and-policy/regulations/finalized-revisions-common-rule/index.html .

39 See https://enfsi.eu/about-enfsi/structure/working-groups/dna/ .

40 See https://www.swgdam.org/publications .

41 See https://www.chinesestandard.net/PDF/English.aspx/GAT815-2009 .

42 See https://strider.online/ .

43 See https://bit.ly/2R4bFgL (DNA-TrAC).

44 See https://cieqfmweb.uqtr.ca/fmi/webd/OD_CIEQ_CRIMINALISTIQUE (Transfer Traces Activity DataBase).

45 See https://www.visage-h2020.eu/index.html#publications .

46 See http://fmd.jcvi.org/ .

47 See https://www.interpol.int/en/How-we-work/Forensics/Disaster-Victim-Identification-DVI .

48 See https://www.isfg.org/Working+Groups/CaDNAP .

Appendix A Supplementary data to this article can be found online at https://doi.org/10.1016/j.fsisyn.2022.100311 .

Appendix A. Supplementary data

The following is the supplementary data to this article:

Book cover

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Recent Advances in Plant Biotechnology

  • Ara Kirakosyan 0 ,
  • Peter B. Kaufman 1

University of Michigan, Ann Arbor, U.S.A.

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Presents a full overview of plant biotechnology from the history to applications

Approach includes associated risks and the effects of plant biotechnology on global warming, alternative energy initiatives, food production, and medicine

Includes supplementary material: sn.pub/extras

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Table of contents (16 chapters)

Front matter, plant biotechnology from inception to the present, overview of plant biotechnology from its early roots to the present.

  • Ara Kirakosyan, Peter B. Kaufman, Leland J. Cseke

The Use of Plant Cell Biotechnology for the Production of Phytochemicals

  • Ara Kirakosyan, Leland J. Cseke, Peter B. Kaufman

Molecular Farming of Antibodies in Plants

  • Rainer Fischer, Stefan Schillberg, Richard M. Twyman

Use of Cyanobacterial Proteins to Engineer New Crops

  • Matias D. Zurbriggen, Néstor Carrillo, Mohammad-Reza Hajirezaei

Molecular Biology of Secondary Metabolism: Case Study for Glycyrrhiza Plants

  • Hiroaki Hayashi

Applications of Plant Biotechnology in Agriculture and Industry

New developments in agricultural and industrial plant biotechnology, phytoremediation: the wave of the future.

  • Jerry S. Succuro, Steven S. McDonald, Casey R. Lu

Biotechnology of the Rhizosphere

  • Beatriz Ramos Solano, Jorge Barriuso Maicas, Javier Gutierrez Mañero

Plants as Sources of Energy

  • Leland J. Cseke, Gopi K. Podila, Ara Kirakosyan, Peter B. Kaufman

Use of Plant Secondary Metabolites in Medicine and Nutrition

Interactions of bioactive plant metabolites: synergism, antagonism, and additivity.

  • John Boik, Ara Kirakosyan, Peter B. Kaufman, E. Mitchell Seymour, Kevin Spelman

The Use of Selected Medicinal Herbs for Chemoprevention and Treatment of Cancer, Parkinson’s Disease, Heart Disease, and Depression

  • Maureen McKenzie, Carl Li, Peter B. Kaufman, E. Mitchell Seymour, Ara Kirakosyan

Regulating Phytonutrient Levels in Plants – Toward Modification of Plant Metabolism for Human Health

Risks and benefits associated with plant biotechnology, risks and benefits associated with genetically modified (gm) plants.

  • Peter B. Kaufman, Soo Chul Chang, Ara Kirakosyan

Risks Involved in the Use of Herbal Products

  • Peter B. Kaufman, Maureen McKenzie, Ara Kirakosyan

Risks Associated with Overcollection of Medicinal Plants in Natural Habitats

  • Maureen McKenzie, Ara Kirakosyan, Peter B. Kaufman
  • agriculture
  • alternative energy
  • bioremediation
  • biotechnology
  • genetically modified plants
  • herbal medicine
  • herbal products
  • plant biotechnology
  • transgenic plants

Ara Kirakosyan, Peter B. Kaufman

Book Title : Recent Advances in Plant Biotechnology

Authors : Ara Kirakosyan, Peter B. Kaufman

DOI : https://doi.org/10.1007/978-1-4419-0194-1

Publisher : Springer New York, NY

eBook Packages : Biomedical and Life Sciences , Biomedical and Life Sciences (R0)

Copyright Information : Springer-Verlag US 2009

Hardcover ISBN : 978-1-4419-0193-4 Published: 30 July 2009

Softcover ISBN : 978-1-4899-7916-2 Published: 23 August 2016

eBook ISBN : 978-1-4419-0194-1 Published: 15 August 2009

Edition Number : 1

Number of Pages : XIV, 405

Topics : Plant Genetics and Genomics , Plant Sciences

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A once-ignored community of science sleuths now has the research community on its heels

recent research paper in biotechnology

A community of sleuths hunting for errors in scientific research have sent shockwaves through some of the most prestigious research institutions in the world — and the science community at large.

High-profile cases of alleged image manipulations in papers authored by the former president at Stanford University and leaders at the Dana-Farber Cancer Institute have made national media headlines, and some top science leaders think this could be just the start.

“At the rate things are going, we expect another one of these to come up every few weeks,” said Holden Thorp, the editor-in-chief of the Science family of scientific journals, whose namesake publication is one of the two most influential in the field. 

The sleuths argue their work is necessary to correct the scientific record and prevent generations of researchers from pursuing dead-end topics because of flawed papers. And some scientists say it’s time for universities and academic publishers to reform how they address flawed research. 

“I understand why the sleuths finding these things are so pissed off,” said Michael Eisen, a biologist, the former editor of the journal eLife and a prominent voice of reform in scientific publishing. “Everybody — the author, the journal, the institution, everybody — is incentivized to minimize the importance of these things.” 

For about a decade, science sleuths unearthed widespread problems in scientific images in published papers, publishing concerns online but receiving little attention. 

That began to change last summer after then-Stanford President Marc Tessier-Lavigne, who is a neuroscientist, stepped down from his post after scrutiny of alleged image manipulations in studies he helped author and a report criticizing his laboratory culture. Tessier-Lavigne was not found to have engaged in misconduct himself, but members of his lab appeared to manipulate images in dubious ways, a report from a scientific panel hired to examine the allegations said. 

In January, a scathing post from a blogger exposed questionable work from top leaders at the Dana-Farber Cancer Institute , which subsequently asked journals to retract six articles and issue corrections for dozens more. 

In a resignation statement , Tessier-Lavigne noted that the panel did not find that he knew of misconduct and that he never submitted papers he didn’t think were accurate. In a statement from its research integrity officer, Dana-Farber said it took decisive action to correct the scientific record and that image discrepancies were not necessarily evidence an author sought to deceive. 

“We’re certainly living through a moment — a public awareness — that really hit an inflection when the Marc Tessier-Lavigne matter happened and has continued steadily since then, with Dana-Farber being the latest,” Thorp said. 

Now, the long-standing problem is in the national spotlight, and new artificial intelligence tools are only making it easier to spot problems that range from decades-old errors and sloppy science to images enhanced unethically in photo-editing software.  

This heightened scrutiny is reshaping how some publishers are operating. And it’s pushing universities, journals and researchers to reckon with new technology, a potential backlog of undiscovered errors and how to be more transparent when problems are identified. 

This comes at a fraught time in academic halls. Bill Ackman, a venture capitalist, in a post on X last month discussed weaponizing artificial intelligence to identify plagiarism of leaders at top-flight universities where he has had ideological differences, raising questions about political motivations in plagiarism investigations. More broadly, public trust in scientists and science has declined steadily in recent years, according to the Pew Research Center .

Eisen said he didn’t think sleuths’ concerns over scientific images had veered into “McCarthyist” territory.

“I think they’ve been targeting a very specific type of problem in the literature, and they’re right — it’s bad,” Eisen said. 

Scientific publishing builds the base of what scientists understand about their disciplines, and it’s the primary way that researchers with new findings outline their work for colleagues. Before publication, scientific journals consider submissions and send them to outside researchers in the field for vetting and to spot errors or faulty reasoning, which is called peer review. Journal editors will review studies for plagiarism and for copy edits before they’re published. 

That system is not perfect and still relies on good-faith efforts by researchers to not manipulate their findings.

Over the past 15 years, scientists have grown increasingly concerned about problems that some researchers were digitally altering images in their papers to skew or emphasize results. Discovering irregularities in images — typically of experiments involving mice, gels or blots — has become a larger priority of scientific journals’ work.   

Jana Christopher, an expert on scientific images who works for the Federation of European Biochemical Societies and its journals, said the field of image integrity screening has grown rapidly since she began working in it about 15 years ago. 

At the time, “nobody was doing this and people were kind of in denial about research fraud,” Christopher said. “The common view was that it was very rare and every now and then you would find someone who fudged their results.” 

Today, scientific journals have entire teams dedicated to dealing with images and trying to ensure their accuracy. More papers are being retracted than ever — with a record 10,000-plus pulled last year, according to a Nature analysis . 

A loose group of scientific sleuths have added outside pressure. Sleuths often discover and flag errors or potential manipulations on the online forum PubPeer. Some sleuths receive little or no payment or public recognition for their work.

“To some extent, there is a vigilantism around it,” Eisen said. 

An analysis of comments on more than 24,000 articles posted on PubPeer found that more than 62% of comments on PubPeer were related to image manipulation. 

For years, sleuths relied on sharp eyes, keen pattern recognition and an understanding of photo manipulation tools. In the past few years, rapidly developing artificial intelligence tools, which can scan papers for irregularities, are supercharging their work. 

Now, scientific journals are adopting similar technology to try to prevent errors from reaching publication. In January, Science announced that it was using an artificial intelligence tool called Proofig to scan papers that were being edited and peer-reviewed for publication. 

Thorp, the Science editor-in-chief, said the family of six journals added the tool “quietly” into its workflow about six months before that January announcement. Before, the journal was reliant on eye-checks to catch these types of problems. 

Thorp said Proofig identified several papers late in the editorial process that were not published because of problematic images that were difficult to explain and other instances in which authors had “logical explanations” for issues they corrected before publication.

“The serious errors that cause us not to publish a paper are less than 1%,” Thorp said.

In a statement, Chris Graf, the research integrity director at the publishing company Springer Nature, said his company is developing and testing “in-house AI image integrity software” to check for image duplications. Graf’s research integrity unit currently uses Proofig to help assess articles if concerns are raised after publication. 

Graf said processes varied across its journals, but that some Springer Nature publications manually check images for manipulations with Adobe Photoshop tools and look for inconsistencies in raw data for experiments that visualize cell components or common scientific experiments.

“While the AI-based tools are helpful in speeding up and scaling up the investigations, we still consider the human element of all our investigations to be crucial,” Graf said, adding that image recognition software is not perfect and that human expertise is required to protect against false positives and negatives. 

No tool will catch every mistake or cheat. 

“There’s a lot of human beings in that process. We’re never going to catch everything,” Thorp said. “We need to get much better at managing this when it happens, as journals, institutions and authors.”

Many science sleuths had grown frustrated after their concerns seemed to be ignored or as investigations trickled along slowly and without a public resolution.  

Sholto David, who publicly exposed concerns about Dana-Farber research in a blog post, said he largely “gave up” on writing letters to journal editors about errors he discovered because their responses were so insufficient. 

Elisabeth Bik, a microbiologist and longtime image sleuth, said she has frequently flagged image problems and “nothing happens.” 

Leaving public comments questioning research figures on PubPeer can start a public conversation over questionable research, but authors and research institutions often don’t respond directly to the online critiques. 

While journals can issue corrections or retractions, it’s typically a research institution’s or a university’s responsibility to investigate cases. When cases involve biomedical research supported by federal funding, the federal Office of Research Integrity can investigate. 

Thorp said the institutions need to move more swiftly to take responsibility when errors are discovered and speak plainly and publicly about what happened to earn the public’s trust.  

“Universities are so slow at responding and so slow at running through their processes, and the longer that goes on, the more damage that goes on,” Thorp said. “We don’t know what happened if instead of launching this investigation Stanford said, ‘These papers are wrong. We’re going to retract them. It’s our responsibility. But for now, we’re taking the blame and owning up to this.’” 

Some scientists worry that image concerns are only scratching the surface of science’s integrity issues — problems in images are simply much easier to spot than data errors in spreadsheets. 

And while policing bad papers and seeking accountability is important, some scientists think those measures will be treating symptoms of the larger problem: a culture that rewards the careers of those who publish the most exciting results, rather than the ones that hold up over time. 

“The scientific culture itself does not say we care about being right; it says we care about getting splashy papers,” Eisen said. 

Evan Bush is a science reporter for NBC News. He can be reached at [email protected].

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What New Love Does to Your Brain

Roses are red, violets are blue. Romance can really mess with you.

An illustration of two heads facing each other; flowers grow out of the heads and they join together in the middle.

By Dana G. Smith

New love can consume our thoughts, supercharge our emotions and, on occasion, cause us to act out of character.

“People pine for love, they live for love, they kill for love and they die for love,” said Helen Fisher, a senior research fellow at the Kinsey Institute at Indiana University. “It’s one of the most powerful brain systems the human animal has ever evolved.”

Scientists have studied what is happening in our brains when we are in those early, heady days of infatuation, and whether it can actually alter how we think and what we do. Their findings suggest that song lyrics and dramatic plotlines don’t overstate it: New love can mess with our heads.

Experts define “romantic love” as a connection deeper than lust, but distinct from the attachment associated with a long-term partnership. In a few of the small studies that have examined this googly-eyed state, researchers put people in the early stages of a romantic relationship (typically less than a year) in M.R.I. scanners to see what was happening in their brains while they looked at pictures of their paramours. They found that the participants showed increased activity in areas of the brain that are rich in the neurochemical dopamine and control feelings of wanting and desire. These regions are also activated by drugs like cocaine, leading some experts to liken love to a sort of “ natural addiction .”

Studies on prairie voles (yes, you read that right) back up these findings. The rodents are one of the few mammal species that mate for life, so researchers sometimes use them as a scientific model for human partnerships. Studies show that when these animals pair up, the brain’s reward system is similarly activated, triggering the release of dopamine.

“Romantic love does not emanate from your cerebral cortex, where you do your thinking; it does not emanate from the brain regions in the middle of your head, linked with the limbic areas, linked with emotions,” said Dr. Fisher, who conducted one of the first human studies on the topic and, along with her role at the Kinsey Institute, is the chief science adviser to Match.com. “It’s based in the brain regions linked with drive, with focus, with motivation.”

This type of dopamine activity may explain why, in the early stages of love, you have the irresistible urge to be with your beloved constantly — what the addiction literature calls “craving.” Indeed, preliminary research conducted by Sandra Langeslag, an associate professor in behavioral neuroscience at the University of Missouri, St. Louis, suggests that some people crave their lover like they crave a drug.

In one of the few studies to directly compare love and addiction, which is still ongoing and has not yet been published, Dr. Langeslag showed 10 people who vaped nicotine either pictures of their lover or pictures of other people vaping (a classic experiment used to invoke craving). The participants ranked their desire to be with their partner higher than their desire to vape.

Other research by Dr. Langeslag’s lab looked at the single-mindedness of love — of being unable to think about anything besides your paramour. In a series of small studies on people in the throes of new love, Dr. Langeslag found that participants reported thinking about the object of their desire roughly 65 percent of their waking hours and said they had trouble focusing on unrelated topics. However, when people were prompted with information related to their beloved, they showed increased attention and had enhanced memory .

There is also some evidence that love can render people oblivious to a new partner’s faults — the “love is blind” phenomenon. Lucy Brown, a professor of neuroscience at Albert Einstein College of Medicine, found that when some study participants were shown pictures of their lover early in a relationship, they had less activity in a part of the prefrontal cortex that is important for decision-making and evaluating others. The findings suggest that we might “suspend negative judgments of the person we’re in love with,” she said.

If love can alter our motivation and attention, perhaps it’s no surprise that people sometimes go to extremes when they’re in its thrall. But giving into your obsession with your lover isn’t necessarily “irrational” behavior, at least from an evolutionary perspective, Dr. Langeslag said.

Scientists believe humans evolved to have these types of responses — which seem to be consistent across age, gender and culture — because bonding and mating are essential for the survival of the species.

“Romantic love is a drive,” Dr. Fisher said. “It’s a basic mating drive that evolved millions of years ago to send your DNA onto tomorrow. And it can overlook just about anything.”

Dana G. Smith is a Times reporter covering personal health, particularly aging and brain health. More about Dana G. Smith

A Guide to Better Romantic Relationships

Looking to build a long-lasting partnership we can help..

Overwhelmed by dating apps, profiles and not-quite-matches? Here’s how to start fresh .

We asked 14 psychologists, counselors and therapists for book recommendations that can help nourish relationships. These seven titles rose to the top of the list .

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Fighting with your partner? These sentences can help you share grievances in a more constructive way . And here are the things you should avoid saying .

Managing libido differences  is a common part of relationships. Here’s some advice that may help .

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Reproductive rights in America

Research at the heart of a federal case against the abortion pill has been retracted.

Selena Simmons-Duffin

Selena Simmons-Duffin

recent research paper in biotechnology

The Supreme Court will hear the case against the abortion pill mifepristone on March 26. It's part of a two-drug regimen with misoprostol for abortions in the first 10 weeks of pregnancy. Anna Moneymaker/Getty Images hide caption

The Supreme Court will hear the case against the abortion pill mifepristone on March 26. It's part of a two-drug regimen with misoprostol for abortions in the first 10 weeks of pregnancy.

A scientific paper that raised concerns about the safety of the abortion pill mifepristone was retracted by its publisher this week. The study was cited three times by a federal judge who ruled against mifepristone last spring. That case, which could limit access to mifepristone throughout the country, will soon be heard in the Supreme Court.

The now retracted study used Medicaid claims data to track E.R. visits by patients in the month after having an abortion. The study found a much higher rate of complications than similar studies that have examined abortion safety.

Sage, the publisher of the journal, retracted the study on Monday along with two other papers, explaining in a statement that "expert reviewers found that the studies demonstrate a lack of scientific rigor that invalidates or renders unreliable the authors' conclusions."

It also noted that most of the authors on the paper worked for the Charlotte Lozier Institute, the research arm of anti-abortion lobbying group Susan B. Anthony Pro-Life America, and that one of the original peer reviewers had also worked for the Lozier Institute.

The Sage journal, Health Services Research and Managerial Epidemiology , published all three research articles, which are still available online along with the retraction notice. In an email to NPR, a spokesperson for Sage wrote that the process leading to the retractions "was thorough, fair, and careful."

The lead author on the paper, James Studnicki, fiercely defends his work. "Sage is targeting us because we have been successful for a long period of time," he says on a video posted online this week . He asserts that the retraction has "nothing to do with real science and has everything to do with a political assassination of science."

He says that because the study's findings have been cited in legal cases like the one challenging the abortion pill, "we have become visible – people are quoting us. And for that reason, we are dangerous, and for that reason, they want to cancel our work," Studnicki says in the video.

In an email to NPR, a spokesperson for the Charlotte Lozier Institute said that they "will be taking appropriate legal action."

Role in abortion pill legal case

Anti-abortion rights groups, including a group of doctors, sued the federal Food and Drug Administration in 2022 over the approval of mifepristone, which is part of a two-drug regimen used in most medication abortions. The pill has been on the market for over 20 years, and is used in more than half abortions nationally. The FDA stands by its research that finds adverse events from mifepristone are extremely rare.

Judge Matthew Kacsmaryk, the district court judge who initially ruled on the case, pointed to the now-retracted study to support the idea that the anti-abortion rights physicians suing the FDA had the right to do so. "The associations' members have standing because they allege adverse events from chemical abortion drugs can overwhelm the medical system and place 'enormous pressure and stress' on doctors during emergencies and complications," he wrote in his decision, citing Studnicki. He ruled that mifepristone should be pulled from the market nationwide, although his decision never took effect.

recent research paper in biotechnology

Matthew Kacsmaryk at his confirmation hearing for the federal bench in 2017. AP hide caption

Matthew Kacsmaryk at his confirmation hearing for the federal bench in 2017.

Kacsmaryk is a Trump appointee who was a vocal abortion opponent before becoming a federal judge.

"I don't think he would view the retraction as delegitimizing the research," says Mary Ziegler , a law professor and expert on the legal history of abortion at U.C. Davis. "There's been so much polarization about what the reality of abortion is on the right that I'm not sure how much a retraction would affect his reasoning."

Ziegler also doubts the retractions will alter much in the Supreme Court case, given its conservative majority. "We've already seen, when it comes to abortion, that the court has a propensity to look at the views of experts that support the results it wants," she says. The decision that overturned Roe v. Wade is an example, she says. "The majority [opinion] relied pretty much exclusively on scholars with some ties to pro-life activism and didn't really cite anybody else even or really even acknowledge that there was a majority scholarly position or even that there was meaningful disagreement on the subject."

In the mifepristone case, "there's a lot of supposition and speculation" in the argument about who has standing to sue, she explains. "There's a probability that people will take mifepristone and then there's a probability that they'll get complications and then there's a probability that they'll get treatment in the E.R. and then there's a probability that they'll encounter physicians with certain objections to mifepristone. So the question is, if this [retraction] knocks out one leg of the stool, does that somehow affect how the court is going to view standing? I imagine not."

It's impossible to know who will win the Supreme Court case, but Ziegler thinks that this retraction probably won't sway the outcome either way. "If the court is skeptical of standing because of all these aforementioned weaknesses, this is just more fuel to that fire," she says. "It's not as if this were an airtight case for standing and this was a potentially game-changing development."

Oral arguments for the case, Alliance for Hippocratic Medicine v. FDA , are scheduled for March 26 at the Supreme Court. A decision is expected by summer. Mifepristone remains available while the legal process continues.

  • Abortion policy
  • abortion pill
  • judge matthew kacsmaryk
  • mifepristone
  • retractions
  • Abortion rights
  • Supreme Court

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  • Published: 15 February 2024

Biotech news from around the world

Nature Biotechnology volume  42 ,  page 166 ( 2024 ) Cite this article

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Japanese banks increase funding for late-stage startups to address a lack of capital that has inhibited growth and contributed to Japan’s lack of unicorns. Sumitomo Mitsui Trust Bank will invest $350 million between 2023 and 2025 in pre-IPO startups, and Mizuho Financial Group launches a $69 million fund to assess the earning power of startups using AI to cut the time needed for investment decisions from a month to a week.

The Uruguay Innovation Hub launches a biotech company-building program to support and promote startup creation. The program’s aim is to help Uruguay attract international investment, increase the economic growth rate, and generate high-quality jobs for the country’s residents.

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5 Biotech Stocks to Consider for Your Portfolio in 2024

Quite a few bigwigs in the biotech sector have reported results for the fourth quarter and the picture is ordinary. While results have been mixed, the outlook provided by most of these companies is encouraging, indicating bright prospects driven by new drug approvals and positive pipeline updates. The macroeconomic environment, however, remains uncertain and growth might be sluggish. Meanwhile, biotech companies are in the spotlight as pharma/biotech giants are now looking to bolster their product portfolios and pipelines through collaborations and buyouts with their legacy drugs face generic challenges. Hence, M&A is back in the spotlight. Given the continuous need for innovative medical treatments, irrespective of the state of the economy, the biotech industry can be a haven, despite the inherent volatility and uncertain macroeconomic environment. Biotech companies like Sarepta Therapeutics, Inc . ( SRPT Quick Quote SRPT - Free Report ) , Exelixis, Inc . ( EXEL Quick Quote EXEL - Free Report ) , Immunocore Holdings plc ( IMCR Quick Quote IMCR - Free Report ) , Editas Medicine, Inc . ( EDIT Quick Quote EDIT - Free Report ) and Puma Biotechnology, Inc . ( PBYI Quick Quote PBYI - Free Report ) are poised to outperform the volatile sector.

Industry Description

The Zacks Biomedical and Genetics industry includes biopharmaceutical and biotechnology companies that develop high-profile drugs using path-breaking technology. These biologically processed drugs, which address virology, neuroscience, metabolism and rare diseases, are manufactured using live organisms. As technology becomes paramount to improving global health, the main goal of biotech companies is to use innovative technology to create breakthrough treatments in quick time. Quite a few companies in this space are developing vaccines using modern technology. Given the dynamic and evolving nature of technology, the sector is perceived to be riskier than the large-cap pharma or drug industry.

4 Trends Shaping the Future of the Biotech Industry

Innovation, Execution Hold the Key : As only a few companies in this industry have approved drugs in their portfolio, the focus is primarily on the performance of high-profile drugs and pipeline development. Most companies spend millions and billions to create a drug with path-breaking technology, which results in significant research and development expenditure. Sometimes, modern treatments might come with side effects, which surface with time and the uptake might fail to meet the expectations. Hence, it takes several years before a biotech company turns profitable. Additionally, successful commercialization is the key to higher drug uptake, as smaller biotechs generally lack the funds and expertise to reach the targeted population. This, in turn, prompts collaboration deals with either pharma or biotech bigwigs, wherein sales are shared or royalties are received. Moreover, it may take quite a few years for any newly-approved drug to contribute significantly to its company’s top line.

M&A in Spotlight : Consolidation has always taken the center stage in the biotech industry. This is because leading pharma/biotech companies look to diversify their revenue base in the face of dwindling sales of their high-profile drugs. Acquisitions also make sense as developing a drug/technology from scratch is not just a costly but also a risky affair. After a lull of almost two years, pharma and pharma/biotech bigwigs are now looking to bolster their portfolios.

The influx of cash from big pharma further propels the biotech sector. Gilead Sciences recently announced that it will acquire CymaBay Therapeutics to strengthen its liver disease portfolio. Bristol Myers acquired oncology-focused company Mirati Therapeutics last month and announced two other back-to-back acquisitions in late 2023.

Novartis recently announced that it will acquire MorphoSys after the Chinook Therapeutics buyout in 2023. Biogen had earlier acquired Reata Pharmaceuticals. While oncology and immuno-oncology are the key focus areas, treatments for obesity, rare diseases and gene-editing companies also hold potential, making them lucrative investment areas. An attractive pipeline candidate is the key lure for these companies. Cost synergies in research and development are added benefits, as quite a few smaller biotech companies are using innovative technologies to develop drugs and treatments.

New Drug Approvals Boost Prospects : The pace of new drug approvals took a hit with the industry’s primary focus on COVID-19 treatments. Nevertheless, new drug approvals saw a surge in 2023. With increasing R&D spending in 2024 and most companies looking to diversify, new drug approvals are likely to see an acceleration going forward.

Pipeline Setbacks & Competition Hurt : Pipeline setbacks are key deterrents for biotech companies, given the exorbitant cost of developing drugs using expensive technology. Most drugs/therapies take years to gain a regulatory nod. An unfavorable outcome from a crucial trial on a promising candidate is a huge setback, particularly for smaller biotechs, which are mostly one-trick ponies. The leading biotechs face other headwinds, including declining sales of high-profile drugs due to intensifying competition.  

Zacks Industry Rank Indicates Decent Prospects

The group’s Zacks Industry Rank is basically the average of the Zacks Rank of all the member stocks.

The Zacks Biomedical and Genetics industry currently carries a Zacks Industry Rank #91, which places it among the top 36% of more than 250 Zacks industries. The rank mirrors a decent outlook for the space, probably due to the consistent demand for better medical drugs/treatments, even though the macroenvironment is challenging. Our research shows that the top 50% of the Zacks-ranked industries outperform the bottom 50% by a factor of more than 2 to 1.

Before we present a few biotech stocks that are well-positioned to beat the industry based on a strong portfolio/pipeline, let’s take a look at the industry’s stock market performance and current valuation.  

Industry Versus S&P 500 & Sector

The Zacks Biomedical and Genetics industry is a 698-stock group within the broader Zacks Medical sector. It has underperformed the S&P 500 Composite and the Zacks Medical sector in the past year.

The stocks in this industry fell 11.7% in the past year against the Zacks Medical sector’s 4.2% growth. The S&P 500 Composite has gained 22.2% in the said time frame.

recent research paper in biotechnology

Industry's Current Valuation

Since most companies in the biotech sector do not have approved drugs, valuing these companies becomes a complex process. On the basis of the trailing 12-month price-to-sales ratio (P/S TTM), which is commonly used for valuing biotech companies with approved portfolios of drugs, the industry is currently trading at 2.47X compared with the S&P 500’s 4.49 and the Zacks Medical sector's 3.27.

Over the last five years, the industry has traded as high as 3.45X, as low as 1.83X and at a median of 2.62X, as the chart below shows.  

Price/Sales TTM

recent research paper in biotechnology

5 Biotech Stocks Worth Buying

Puma Biotech ’s sole marketed drug, Nerlynx, is performing well with consistent sales performance in the United States in an extremely competitive space. The company has also received additional approvals for using Nerlynx in the extended adjuvant population, which increases the sales potential of the drug. It has also acquired a clinical-stage candidate, alisertib, from Takeda. The successful development of this oncology candidate will strengthen PBYI’s portfolio.

The company currently sports a Zacks Rank #1 (Strong Buy). You can see the complete list of today’s Zacks #1 Rank stocks here .

The Zacks Consensus Estimate for 2024 earnings per share has increased 7 cents to 69 cents in the past 90 days. Shares of the company have surged 47.3% in the past year.

Price and Consensus: PBYI

recent research paper in biotechnology

Sarepta ’s first Duchenne muscular dystrophy (DMD) drug, Exondys 51, has performed well and should continue its growth trajectory. The company’s two new DMD drugs, Vyondys 53 and Amondys 45, also show strong demand trends. The FDA’s approval of Elevidys (SRP-9001), the first-ever gene therapy for DMD, has been a significant boost for the company with blockbuster potential. The development of Sarepta’s promising next-generation DMD candidate is progressing well and its successful development will strengthen the DMD franchise.

Sarepta currently carries a Zacks Rank #2 (Buy).  The bottom-line estimate for 2024 has risen 16 cents in the past 30 days to $2.43. Shares of the company have risen 5.8% in the past year.

Price and Consensus: SRPT

recent research paper in biotechnology

Exelixis’ lead drug, Cabometyx, delivered a strong performance in 2023, driven by its use in combination with Opdivo in the first-line setting for renal cell carcinoma. The drug also posted growth in the hepatocellular carcinoma indication. Management will focus on additional label expansion of Cabometyx in 2024, acceleration of the development of promising pipeline candidates zanzalintinib, XB002 and XL309, and the advancement of other promising preclinical programs into clinical development. The strong performance of Cabometyx and encouraging pipeline progress should help Exelixis maintain its growth trajectory.

The bottom-line estimate for 2024 has moved north 7 cents in the past 30 days to $1.41. The company currently has a Zacks Rank #2. Exelixis’ shares have risen 12.8% in the past year.

Price and Consensus: EXEL

recent research paper in biotechnology

Immunocore is focused on the development of a novel class of T cell receptor (TCR) bispecific immunotherapies, designed to treat a broad range of diseases, including cancer, autoimmune and infectious diseases. The company’s most advanced oncology TCR therapeutic, KIMMTRAK, the world’s first soluble TCR therapy, has been approved for the treatment of adult patients with unresectable or metastatic uveal melanoma in the United States, European Union and many other countries. As of 2023-end, KIMMTRAK was launched in ten countries and approved in 38. The company is pursuing future growth opportunities for KIMMTRAK with two registrational trials in advanced cutaneous melanoma and adjuvant uveal melanoma.

The company is also developing a deep pipeline in multiple therapeutic areas.

Immunocore currently carries a Zacks Rank #2. Loss estimates for 2024 have narrowed to $1.42 from $1.45 in the past 60 days.  The stock has risen 17.7% in the past year.

Price and Consensus: IMCR

recent research paper in biotechnology

Editas , a clinical stage genome editing company, has developed a proprietary gene editing platform based on CRISPR technology. Editas is developing its lead candidate, EDIT-301, for treating severe sickle cell disease (SCD) and transfusion-dependent beta thalassemia. The company recently reported positive results from studies of EDIT-301 in these indications.  The recent FDA approval of the two gene therapies has boosted the growth potential of this company as well. Editas also inked a deal with Vertex to develop the latter’s new SCD gene therapy, Casgevy.

Loss estimates for 2024 have narrowed to $2.48 from $2.58 in the past 60 days. The company currently has a Zacks Rank #2.

Price and Consensus: EDIT

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AI gone wild —

Scientists aghast at bizarre ai rat with huge genitals in peer-reviewed article, it's unclear how such egregiously bad images made it through peer-review..

Beth Mole - Feb 15, 2024 11:16 pm UTC

An actual laboratory rat, who is intrigued.

Appall and scorn ripped through scientists' social media networks Thursday as several egregiously bad AI-generated figures circulated from a peer-reviewed article recently published in a reputable journal. Those figures—which the authors acknowledge in the article's text were made by Midjourney—are all uninterpretable. They contain gibberish text and, most strikingly, one includes an image of a rat with grotesquely large and bizarre genitals, as well as a text label of "dck."

AI-generated Figure 1 of the paper. This image is supposed to show spermatogonial stem cells isolated, purified, and cultured from rat testes.

The article in question is titled "Cellular functions of spermatogonial stem cells in relation to JAK/STAT signaling pathway," which was authored by three researchers in China, including the corresponding author Dingjun Hao of Xi’an Honghui Hospital. It was published online Tuesday in the journal Frontiers in Cell and Developmental Biology.

Frontiers did not immediately respond to Ars' request for comment, but we will update this post with any response.

Figure 2 is supposed to be a diagram of the JAK-STAT signaling pathway.

But the rat's package is far from the only problem. Figure 2 is less graphic but equally mangled. While it's intended to be a diagram of a complex signaling pathway, it instead is a jumbled mess. One scientific integrity expert questioned whether it provided an overly complicated explanation of "how to make a donut with colorful sprinkles." Like the first image, the diagram is rife with nonsense text and baffling images. Figure 3 is no better, offering a collage of small circular images that are densely annotated with gibberish. The image is supposed to provide visual representations of how the signaling pathway from Figure 2 regulates the biological properties of spermatogonial stem cells.

Some scientists online questioned whether the article's text was also AI-generated. One user noted that AI detection software determined that it was likely to be AI-generated; however, as Ars has reported previously, such software is unreliable .

Figure 3 is supposed to show the regulation of biological properties of spermatogonial stem cells by JAK/STAT signaling pathway.

The images, while egregious examples, highlight a growing problem in scientific publishing. A scientist's success relies heavily on their publication record, with a large volume of publications, frequent publishing, and articles appearing in top-tier journals, all of which earn scientists more prestige. The system incentivizes less-than-scrupulous researchers to push through low-quality articles, which, in the era of AI chatbots, could potentially be generated with the help of AI. Researchers worry that the growing use of AI will make published research less trustworthy. As such, research journals have recently set new authorship guidelines for AI-generated text to try to address the problem. But for now, as the Frontiers article shows, there are clearly some gaps.

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  5. (PDF) FUTURE PERSPECTIVE OF PLANT BIOTECHNOLOGY: A REVIEW

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COMMENTS

  1. Biotechnology

    Biotechnology - Latest research and news | Nature nature subjects biotechnology Biotechnology articles from across Nature Portfolio Atom RSS Feed Biotechnology is a broad discipline in...

  2. Current Research in Biotechnology

    Current Research in Biotechnology ( CRBIOT) is a new primary research, gold open access journal from Elsevier. CRBIOT publishes original papers, reviews, and short communications (including viewpoints and perspectives) resulting from research in biotechnology and biotech-associated disciplines. Cur… View full aims & scope $2390

  3. Current research in biotechnology: Exploring the biotech forefront

    Current research in biotechnology: Exploring the biotech forefront - ScienceDirect Volume 1, November 2019, Pages 34-40 Current research in biotechnology: Exploring the biotech forefront Andy Wai Kan Yeung a , Nikolay T. Tzvetkov b c , Vijai K. Gupta d , Subash C. Gupta e , Gorka Orive f g h , Günther K. Bonn i j , Bernd Fiebich k ,

  4. Research articles

    Rebecca P. Kim-Yip Ryan McNulty Britt Adamson Brief Communication Open Access 06 Feb 2024 Ultra-fast label-free quantification and comprehensive proteome coverage with narrow-window...

  5. Biotech News and Research

    What's Next? 15 hours ago — Ben Guarino Biotech A-fib—a Rapid, Irregular Heartbeat—Can Kill You, but New Tech Can Spot It January 29, 2024 — Lydia Denworth Engineering Ultrasound Enables Remote...

  6. Browse Articles

    Article 09 Feb 2024 Simultaneous single-cell analysis of 5mC and 5hmC with SIMPLE-seq SIMPLE-seq measures both 5-methylcytosine and 5-hydroxymethylcytosine at base resolution in single cells....

  7. Human Molecular Genetics and Genomics

    The focus of genomics research has recently moved beyond analyzing DNA variation to studying patterns of gene expression in individual cells, a step that has been driven by new methods for...

  8. New articles: Trends in Biotechnology

    First published: February 05, 2024 Microcarrier expansion systems show exciting potential to revolutionise mesenchymal stromal cell (MSC)-based clinical therapies by providing an opportunity for economical large-scale expansion of donor- and patient-derived cells.

  9. 3D bioprinting: current status and trends—a guide to the ...

    1 Mention Explore all metrics Abstract The multidisciplinary research field of bioprinting combines additive manufacturing, biology and material sciences to create bioconstructs with three-dimensional architectures mimicking natural living tissues.

  10. A brief overview of global biotechnology

    Research Article A brief overview of global biotechnology Donald K. Martin , Oscar Vicente , Tommaso Beccari , Miklós Kellermayer , Martin Koller , Ratnesh Lal , show all Pages S5-S14 | Received 04 Jan 2021, Accepted 15 Jan 2021, Published online: 07 Feb 2021 Cite this article https://doi.org/10.1080/13102818.2021.1878933 In this article

  11. Cell Press: Trends in Biotechnology

    Trends in Biotechnology: Cell Press Supports open access Current issue Volume. 42 Issue. 2, February 2024 Online now Archive Submit article Featured content OpinionOpen Access How close are we to storing data in DNA? Cerize and colleagues Published online: September 4, 2023 Review Synthetic control of living cells by intracellular polymerization

  12. New research helps create new antibiotic that evades bacterial resistance

    T. thermophilus HB27 strain expressing Cfr-like methylase. Credit: Nature Chemical Biology (2024). DOI: 10.1038/s41589-023-01525-w

  13. Biotechnology News -- ScienceDaily

    updated 3:38pm EST New Research Uncovers Biological Drivers of Heart Disease Risk Feb. 7, 2024 — Over the past 15 years, researchers have identified hundreds of regions in the human genome...

  14. Trends in Biotechnology

    About the journal Trends in Biotechnology Trends in Biotechnology publishes reviews and perspectives on the applied biological sciences: useful science applied to, derived from, or inspired by living systems. The major themes that TIBTECH is interested in include: Bioprocessing :biochemical engineering, applied enzymology, industrial …

  15. The future of plant biotechnology in a globalized and environmentally

    Plant biotechnology is a mature technology. Modern biotechnology was a scientifically obvious outcome of the striking advances in molecular biology that followed the discovery of the bacterial DNA restriction-modification system (Luria and Human, 1952; Luria, 1953; Dussoix and Arber, 1962; Nathans and Smith, 1975).Microorganisms and plants were the first organisms to be manipulated to serve ...

  16. Latest articles from Critical Reviews in Biotechnology

    News & calls for papers Advertising information; Browse all articles & issues Browse. Latest articles Current issue All volumes & issues ... Single-cell transcriptomics is revolutionizing the improvement of plant biotechnology research: recent advances and future opportunities. Harmeet Kaur, Priyanka Jha, Sergio J. Ochatt & Vijay Kumar ...

  17. Recent advances in forensic biology and forensic DNA typing: INTERPOL

    Forensic microbiome research covers at least six areas: (1) individual identification, (2) tissue/body fluid identification, (3) geolocation, (4) time since stain deposition estimation, (5) forensic medicine, and (6) post-mortem interval (PMI) estimation. Biological, technical, and data issues have been raised and potential solutions explored ...

  18. The next 25 years

    In the new era of human and holobiont real-world research, wearables and in-home sensors will provide longitudinal data, enabling detailed parsing of hitherto ill-defined states related to...

  19. Current Research in Biotechnology

    In 2020, 74 biotech startups went public through an initial public offering (IPO) and 60 went through the IPO process in the first six months of 2021. However, the traits associated with biotech ...

  20. Recent Advances in Plant Biotechnology

    Dr. Kirakosyan is principal author of over 50 peer-reviewed research papers in professional journals and several chapters in books dealing with plant biotechnology and molecular biology. He is second author of best-selling book, "Natural Products from Plants", 2 nd edition (2006). Ara Kirakosyan is a full member of the Phytochemical Society of ...

  21. How the push to limit Chinese biotech could threaten U.S. edge

    Efforts in Congress to restrict U.S. market access for Chinese biotech companies and investors face a central dilemma: They could disrupt key relationships and supply chains U.S. life sciences companies rely on.. Why it matters: Bipartisan consensus for action is growing amid deteriorated U.S.-China relations, but it's running into the reality that they'll have to balance moves to address U.S ...

  22. Call for Special Issue Papers: Diversity, Equity, and Inclusion in

    GEN Biotechnology is pleased to announce a call for papers for our special issue: Diversity, Equity, and Inclusion in Biotechnology! This collection of research articles, reviews, commentaries and perspectives will be published in 2024. We invite researchers to submit without delay manuscripts describing DEI issues and considerations in ...

  23. A once-ignored community of science sleuths now has the research

    A community of sleuths hunting for errors in scientific research have sent shockwaves through some of the most prestigious research institutions in the world — and the science community at large.

  24. How Love and Romance Affect Your Brain

    Roses are red, violets are blue. Romance can really mess with you. By Dana G. Smith New love can consume our thoughts, supercharge our emotions and, on occasion, cause us to act out of character ...

  25. Current Research in Biotechnology

    Yide Huang In Press, Journal Pre-proof, Available online 2 February 2024 View PDF Article preview Research articleOpen access FEEDS, the Food wastE biopEptiDe claSsifier: from microbial genomes and substrates to biopeptides function Victor Borin Centurion, Edoardo Bizzotto, Stefano Tonini, Pasquale Filannino, ... Stefano Campanaro

  26. The abortion pill case on its way to the Supreme Court cites a

    A research paper that raises questions about the safety of abortion has been retracted. The research is cited in a federal judge's ruling about the abortion pill mifepristone.

  27. Biotech news from around the world

    The Uruguay Innovation Hub launches a biotech company-building program to support and promote startup creation. The program's aim is to help Uruguay attract international investment, increase ...

  28. 5 Biotech Stocks to Consider for Your Portfolio in 2024

    New Drug Approvals Boost Prospects: The pace of new drug approvals took a hit with the industry's primary focus on COVID-19 treatments. Nevertheless, new drug approvals saw a surge in 2023.

  29. Scientists aghast at bizarre AI rat with huge genitals in peer-reviewed

    As such, research journals have recently set new authorship guidelines for AI-generated text to try to address the problem. But for now, as the Frontiers article shows, there are clearly some gaps.