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Open Access Debate

Caught you: threats to confidentiality due to the public release of large-scale genetic data sets

Matthias Wjst

Author Affiliations

Institute of Lung Biology and Disease, CPC - Comprehensive Pneumology Center, Helmholtz Center Munich - German Research Center for Environmental Health, Munich, Germany

BMC Medical Ethics 2010, 11:21  doi:10.1186/1472-6939-11-21

Published: 29 December 2010

Abstract

Background

Large-scale genetic data sets are frequently shared with other research groups and even released on the Internet to allow for secondary analysis. Study participants are usually not informed about such data sharing because data sets are assumed to be anonymous after stripping off personal identifiers.

Discussion

The assumption of anonymity of genetic data sets, however, is tenuous because genetic data are intrinsically self-identifying. Two types of re-identification are possible: the "Netflix" type and the "profiling" type. The "Netflix" type needs another small genetic data set, usually with less than 100 SNPs but including a personal identifier. This second data set might originate from another clinical examination, a study of leftover samples or forensic testing. When merged to the primary, unidentified set it will re-identify all samples of that individual.

Even with no second data set at hand, a "profiling" strategy can be developed to extract as much information as possible from a sample collection. Starting with the identification of ethnic subgroups along with predictions of body characteristics and diseases, the asthma kids case as a real-life example is used to illustrate that approach.

Summary

Depending on the degree of supplemental information, there is a good chance that at least a few individuals can be identified from an anonymized data set. Any re-identification, however, may potentially harm study participants because it will release individual genetic disease risks to the public.