Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

Genet Med. 2012 Apr;14(4):424-31. doi: 10.1038/gim.2012.15. Epub 2012 Feb 23.

Abstract

Purpose: Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.

Methods: The Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision making.

Results: Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The return of results oversight committee identified two sex chromosomal anomalies, Klinefelter syndrome and Turner syndrome, as well as homozygosity for factor V Leiden, as findings that could warrant reporting. Views about returning findings of HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of electronic medical records suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site).

Conclusion: The eMERGE experience reveals the complexity of return of results decision making and provides a potential deliberative model for adoption in other collaborative contexts.

MeSH terms

  • Biomedical Research / ethics
  • Biomedical Research / statistics & numerical data*
  • Factor V / genetics
  • Genetics, Medical / ethics
  • Genetics, Medical / statistics & numerical data
  • Genome-Wide Association Study / ethics
  • Genome-Wide Association Study / statistics & numerical data*
  • Homozygote
  • Humans
  • Incidental Findings
  • Klinefelter Syndrome / diagnosis
  • Klinefelter Syndrome / genetics
  • Medical Informatics / ethics
  • Medical Informatics / statistics & numerical data
  • Research Subjects*
  • Sex Chromosome Aberrations
  • Truth Disclosure / ethics
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics

Substances

  • factor V Leiden
  • Factor V