Experiences and attitudes of genome investigators regarding return of individual genetic test results

Journal name:: Genetics in Medicine; (2013)
DOI:: doi:10.1038/gim.2013.58

Received: 19 December 2012
Accepted: 26 March 2013
Published online: 02 May 2013

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.

Genet Med advance online publication 2 May 2013

View full text