Lynch Vanessa, Heathfield Laura Jane, Budowle Bruce
Department of Private Law, Faculty of Law, Stellenbosch University, Stellenbosch, South Africa; Member of the Forensic Databases Advisory Board (FDAB).
Biomedical Forensic Science Unit, Division of Forensic Medicine and Toxicology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, South Africa.
Forensic Sci Int Genet. 2025 Mar;76:103213. doi: 10.1016/j.fsigen.2024.103213. Epub 2024 Dec 15.
Human identification by forensic DNA profiling primarily relies on the analysis of short tandem repeat markers (STRs) and Amelogenin or other sex determining markers. The resultant DNA profiles can be compared directly between evidence and reference samples or indirectly (i.e., kinship) between human remains and family reference samples. Although Amelogenin serves as a phenotypic marker for biological sex, it is often considered innocuous, and the biological sex derived from this marker is routinely reported and/or uploaded to national DNA databases. However, biological sex does not necessarily align with gender identity, and chromosomal anomalies may affect the presentation of biological sex. Biological sex is genetically determined and assigned at birth based on anatomical features, whereas gender identity is an individual expression that may change over time and may not correspond with biological sex. This paper highlights how the differences between biological sex and gender identity can potentially impinge on individual privacy. Beyond gender differences, genetic anomalies related to the presentation of biological sex can occur, and the consequences of revealing such anomalies may have far-reaching implications for the individuals involved. Disclosing biological sex in a forensic DNA profile does not take into account the ramifications for persons or their families with genetic anomalies related to sex chromosomes (which may or may not be known to the individual), transgender transformations (which may or may not have been disclosed by the individual), or gender-identity expressions that do not correspond with biological sex. Through the presentation of case scenarios, while knowledge of biological sex may be important for operational forensic DNA laboratories and critical in certain cases, it is often not relevant to criminal investigations, courtroom deliberations, or public disclosure. It behoves all of us to understand that the dissemination of biological sex data in the public domain, especially in contexts where disclosure is unnecessary, may impact individual privacy. In light of the current understanding and growing impact of gender identity, it is recommended with all due speed that (1) 'biological sex' and 'gender' be recognised as separate concepts, not to be used synonymously nor interchangeably; (2) definitions of a DNA profile be reviewed and more clarity added; and (3) policies and protocols be developed to restrict such information from reports and court proceedings (i.e., public arenas), when not relevant, thereby reducing unwarranted intrusions into individual privacy and acknowledging the right to keep biological sex private and control how and when this personal information is shared.
法医DNA分型进行人类身份识别主要依赖于对短串联重复序列标记（STR）以及牙釉蛋白或其他性别决定标记的分析。所得的DNA图谱可直接用于比对证据样本和参考样本，或间接用于比对人类遗骸与家族参考样本（即亲属关系）。尽管牙釉蛋白可作为生物学性别的表型标记，但它通常被视为无害，并且从该标记得出的生物学性别会被常规报告和/或上传至国家DNA数据库。然而，生物学性别不一定与性别认同相符，染色体异常可能会影响生物学性别的表现。生物学性别由基因决定，并在出生时根据解剖特征确定，而性别认同是一种个体表达，可能会随时间变化，且可能与生物学性别不一致。本文强调了生物学性别与性别认同之间的差异如何可能侵犯个人隐私。除了性别差异外，还可能出现与生物学性别表现相关的基因异常，而揭示此类异常的后果可能会对相关个人产生深远影响。在法医DNA图谱中披露生物学性别并未考虑到对患有与性染色体相关基因异常（个人可能知道或不知道）、经历过性别转变（个人可能已披露或未披露）或性别认同表达与生物学性别不符的个人或其家庭的影响。通过呈现案例场景可以看出，虽然了解生物学性别对于法医DNA实验室的运作可能很重要，在某些情况下也至关重要，但它通常与刑事调查、法庭审议或公开披露无关。我们所有人都应该明白，在公共领域传播生物学性别数据，尤其是在不必要披露的情况下，可能会影响个人隐私。鉴于目前对性别认同的理解及其日益增加的影响，建议尽快做到：（1）将“生物学性别”和“性别”视为不同概念，不应同义使用或互换使用；（2）审查DNA图谱的定义并增加更多清晰度；（3）制定政策和协议，在不相关时限制此类信息在报告和法庭程序（即公共场合）中出现，从而减少对个人隐私的不必要侵犯，并承认个人有权对生物学性别保密并控制该个人信息的共享方式和时间。
