Experiences and Attitudes of Genome Investigators Regarding Return of Individual Genetic Test Results

Genet Med. 2013 Nov;15(11):882-7. doi: 10.1038/gim.2013.58. Epub 2013 May 2.

Abstract

Purpose: Whether and how to return individual genetic results to study participants is among the most contentious policy issues in contemporary genomic research.

Methods: We surveyed corresponding authors of genome-wide association studies, identified through the National Human Genome Research Institute's Catalog of Published Genome-Wide Association Studies, to describe the experiences and attitudes of these stakeholders.

Results: Of 357 corresponding authors, 200 (56%) responded. One hundred twenty-six (63%) had been responsible for primary data and sample collection, whereas 74 (37%) had performed secondary analyses. Only 7 (4%) had returned individual results within their index genome-wide association studies. Most (69%) believed that return of results to individual participants was warranted under at least some circumstances. Most respondents identified a desire to benefit participants' health (63%) and respect for participants' desire for information (57%) as major motivations for returning results. Most also identified uncertain clinical utility (76%), the possibility that participants will misunderstand results (74%), the potential for emotional harm (61%), the need to ensure access to trained clinicians (59%), and the potential for loss of confidentiality (51%) as major barriers to return of results.

Conclusion: Investigators have limited experience returning individual results from genome-scale research, yet most are motivated to do so in at least some circumstances.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Access to Information
  • Attitude*
  • Data Collection
  • Genetic Research
  • Genetic Testing* / ethics
  • Genome-Wide Association Study
  • Humans
  • Incidental Findings*
  • Motivation
  • National Human Genome Research Institute (U.S.)
  • Research Personnel* / ethics
  • Research Personnel* / psychology
  • United States