Assessing and managing risk when sharing aggregate genetic variant data

Nat Rev Genet. 2011 Sep 16;12(10):730-6. doi: 10.1038/nrg3067.


Access to genetic data across studies is an important aspect of identifying new genetic associations through genome-wide association studies (GWASs). Meta-analysis across multiple GWASs with combined cohort sizes of tens of thousands of individuals often uncovers many more genome-wide associated loci than the original individual studies; this emphasizes the importance of tools and mechanisms for data sharing. However, even sharing summary-level data, such as allele frequencies, inherently carries some degree of privacy risk to study participants. Here we discuss mechanisms and resources for sharing data from GWASs, particularly focusing on approaches for assessing and quantifying the privacy risks to participants that result from the sharing of summary-level data.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Review

MeSH terms

  • Cohort Studies
  • Confidentiality
  • Data Collection* / legislation & jurisprudence
  • Databases, Genetic
  • Genetic Variation* / physiology
  • Genome-Wide Association Study* / methods
  • Genome-Wide Association Study* / statistics & numerical data
  • Humans
  • Information Dissemination / legislation & jurisprudence
  • Information Dissemination / methods*
  • Meta-Analysis as Topic
  • Polymorphism, Single Nucleotide
  • Risk Assessment