Ethical implications of the use of whole genome methods in medical research

Eur J Hum Genet. 2010 Apr;18(4):398-403. doi: 10.1038/ejhg.2009.191. Epub 2009 Nov 4.


The use of genome-wide association studies (GWAS) in medical research and the increased ability to share data give a new twist to some of the perennial ethical issues associated with genomic research. GWAS create particular challenges because they produce fine, detailed, genotype information at high resolution, and the results of more focused studies can potentially be used to determine genetic variation for a wide range of conditions and traits. The information from a GWA scan is derived from DNA that is a powerful personal identifier, and can provide information not just on the individual, but also on the individual's relatives, related groups, and populations. Furthermore, it creates large amounts of individual-specific digital information that is easy to share across international borders. This paper provides an overview of some of the key ethical issues around GWAS: consent, feedback of results, privacy, and the governance of research. Many of the questions that lie ahead of us in terms of the next generation sequencing methods will have been foreshadowed by GWAS and the debates around ethical and policy issues that these have created.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomedical Research / ethics*
  • Biomedical Research / legislation & jurisprudence
  • Ethics, Medical*
  • Genetic Privacy / legislation & jurisprudence*
  • Genome, Human*
  • Genome-Wide Association Study*
  • Humans