Assessing ethical standards in forensic population genetics: A systematic review of forensic science international: Genetics and forensic science international: Reports publications

In forensic genetics, the allele and haplotype frequencies of relevant populations are required to determine the weight of evidence for DNA matches. In recent years, ethical concerns have been raised about population studies published in forensic journals and compiled in Forensic Genetics Frequency Databases (FGFDs), particularly regarding consent procedures for sample collection, the overrepresentation of vulnerable groups, and the risk of donor re-identification. A comprehensive review of ethical practices in forensic population genetics research on identity DNA polymorphisms and ancestry informative markers was conducted, focusing on papers published in Forensic Science International: Genetics and indexed in MEDLINE (2007–2025) and Forensic Science International: Reports (2019–2025). A decline in the number of published forensic population genetics papers was observed following the adoption of dedicated ethical guidelines in 2020. However, increased attention to ethical issues, such as the need for informed consent (IC) of sample donors and approval by pertinent ethical review boards (ERB), predates 2020, with a linear increase over time in the proportion of papers reporting IC and ERB approval. Among the included papers, 48.7% were conducted by or in collaboration with law enforcement laboratories, 39.1% involved minority populations, and 14.3% used forensic casework samples, all of which represent potential sources of ethical concern. In most studies conducted by multinational teams, researchers from the countries of the sampled populations were involved, with the notable exception of Africa, with 31.0% of studies having no African-affiliated authors. Furthermore, even after 2020, a substantial proportion of studies (11.8%) reported complete genotypes of DNA markers associated with a high risk of re-identification. The most common form of non-compliance with the 2020 ethical guidelines was the failure to report written informed consent (40.0%). Overall, the proportion of studies classified as ethically “low risk” according to the Forensic Database Advisory Board increased significantly after 2020, reaching 78.5% of the papers published in that period. Notably, during the preceding period (2010–2020), the proportion of low risk studies was significantly higher for DNA markers for which editorial guidelines required quality control by an FGFD (42.1%) than for other markers (30.3%). To support editors and peer reviewers, suggestions are proposed to improve ethical guidelines for the publication of forensic population genetics data, with particular attention to ERB approval documentation, secondary use of biological samples, and recognition of the role of researchers from the country of population samples collection in multinational studies.