On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy
Open accessAbstract
Recent advances in genome-scale, system-level measurements of quantitative phenotypes (transcriptome, metabolome, and proteome) promise to yield unprecedented biological insights. In this environment, broad dissemination of results from genome-wide association studies (GWASs) or deep-sequencing efforts is highly desirable. However, summary results from case-control studies (allele frequencies) have been withdrawn from public access because it has been shown that they can be used for inferring participation in a study if the individual's genotype is available. A natural question that follows is how much private information is contained in summary results from quantitative trait GWAS such as regression coefficients or p values. We show that regression coefficients for many SNPs can reveal the person's participation and for participants his or her phenotype with high accuracy. Our power calculations show that regression coefficients contain as much information on individuals as allele frequencies do, if the person's phenotype is rather extreme or if multiple phenotypes are available as has been increasingly facilitated by the use of multiple-omics data sets. These findings emphasize the need to devise a mechanism that allows data sharing that will facilitate scientific progress without sacrificing privacy protection.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [68]
Cites
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057 · see citing works
Homer, N., Szelinger, S., Redman, M., Duggan, D., Tembe, W., Muehling, J., Pearson, J. V., Stephan, D. A., Nelson, S. F., & Craig, D. W. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000167 · Cited by 1,221 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Identifying Personal Genomes by Surname Inference
Gymrek, M., McGuire, A. L., Golan, D., Halperin, E., & Erlich, Y. (2013) · Science · doi:10.1126/science.1229566 · Cited by 1,228 · see citing works
Naveed, M., Ayday, E., Clayton, E. W., Fellay, J., Gunter, C. A., Hubaux, J.-P., Malin, B. A., & Wang, X. (2015) · ACM Computing Surveys · doi:10.1145/2767007 · Cited by 261 · see citing works
Lessons from HeLa Cells: The Ethics and Policy of Biospecimens
Beskow, L. M. (2016) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022536 · Cited by 146 · see citing works
“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.”
BackgroundOn Utility and Privacy in Synthetic Genomic Data
Oprisanu, B., Ganev, G., & De Cristofaro, E. (2022) · Proceedings 2022 Network and Distributed System Security Symposium · doi:10.14722/ndss.2022.24092 · Cited by 23 · see citing works
- Authors
- Im, H. K., Gamazon, E. R., Nicolae, D. L., & Cox, N. J.
- Affiliations
- University of Chicago (US)
- Corresponding author
- Im, Hae Kyung
- Cox, Nancy J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-04
- Volume
- 90
- Issue
- 4
- Pages
- 591-598
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3322234
- OpenAlex
- W2134493890
- Cited by
- 103
- References
- 2
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2 · 2023: 7 · 2022: 8 · 2021: 11 · 2020: 5 · 2019: 7 · 2018: 4 · 2017: 5 · 2016: 13 · 2015: 8 · 2014: 11 · 2013: 11 · 2012: 5
- FWCI
- 11.00
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (R01MH090937)
- National Institute of Diabetes and Digestive and Kidney Diseases (P60DK20595, P60DK020595)
- Topics
- Physical Sciences › Computer Science › Artificial Intelligence › Privacy-Preserving Technologies in Data
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ethics in Clinical Research
- Keywords
- genetic privacy, regression coefficients, re-identification, data sharing, allele frequency, case-control study, privacy preservation, power analysis
- MeSH terms
- Female, Gene Frequency, Humans, Male, Privacy, Genomics, Information Dissemination, Quantitative Trait Loci, Proteomics, Genome-Wide Association Study, Metabolomics, Transcriptome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review