Identifying Personal Genomes by Surname Inference
Abstract
Anonymity Compromised: The balance between maintaining individual privacy and sharing genomic information for research purposes has been a topic of considerable controversy. Gymrek et al. (p. 321 ; see the Policy Forum by Rodriguez et al. ) demonstrate that the anonymity of participants (and their families) can be compromised by analyzing Y-chromosome sequences from public genetic genealogy Web sites that contain (sometimes distant) relatives with the same surname. Short tandem repeats (STRs) on the Y chromosome of a target individual (whose sequence was freely available and identified in GenBank) were compared with information in public genealogy Web sites to determine the shortest time to the most recent common ancestor and find the most likely surname, which, when combined with age and state of residency identified the individual. When STRs from 911 individuals were used as the starting points, the analysis projected a success rate of 12% within the U.S. male population with Caucasian ancestry. Further analysis of detailed pedigrees from one collection revealed that families of individuals whose genomes are in public repositories could be identified with high probability.
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Even when sensitive patient data are anonymized, certain algorithms can still identify individual patients.
“Other studies have shown that, even when sensitive patient data are anonymized, certain algorithms can still identify individual patients [189-191].”
From Multimodal Large Language Models in Health Care: Applications, Challenges, and Future Outlook. (2024) · cites this paper as [191]
Genomic data can never be truly anonymized, and a steady stream of provocative studies has demonstrated that it is possible to discover the identities of individuals whose genomic data had otherwise been considered deidentified.
“However, this rapidly evolving research arena has been accompanied by equally rapid confirmation that genomic data can never be truly anonymized. A steady stream of provocative studies (51, 62, 68, 122) has demonstrated that it is possible to discover the identities of individuals whose genomic data had otherwise been considered deidentified.”
From Lessons from HeLa Cells: The Ethics and Policy of Biospecimens (2016) · cites this paper as [51]
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- Authors
- Gymrek, M., McGuire, A. L., Golan, D., Halperin, E., & Erlich, Y.
- Affiliations
- Broad Institute (US)
- Baylor College of Medicine (US)
- Tel Aviv University (IL)
- International Computer Science Institute (US)
- Whitehead Institute for Biomedical Research (US)
- Corresponding author
- Erlich, Yaniv
- Venue
- Science
- Published
- 2013-01-18
- Volume
- 339
- Issue
- 6117
- Pages
- 321-324
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2168610667
- Cited by
- 1,228
- References
- 24
- Citations by year
- 2026: 70 · 2025: 45 · 2024: 50 · 2023: 60 · 2022: 79 · 2021: 89 · 2020: 77 · 2019: 104 · 2018: 125 · 2017: 96 · 2016: 116 · 2015: 101 · 2014: 125 · 2013: 89 · 2012: 1
- FWCI
- 94.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic diversity and population structure
- Keywords
- genetic privacy, Y-chromosome short tandem repeats, genetic genealogy, most recent common ancestor, family identification, genomic data sharing
- MeSH terms
- Humans, Male, Names, Pedigree, United States, Genome, Human, Microsatellite Repeats, Genomics, Information Dissemination, Anonymous Testing, Chromosomes, Human, Y
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