Return of genomic results to research participants: the floor, the ceiling, and the choices in between

Jarvik, Amendola, Berg, Brothers, Clayton, Chung, Evans, Evans, Fullerton, Gallego, et al. Return of genomic results to research participants: the floor, the ceiling, and the choices in between. Am J Hum GenetAm J Hum GenetAm J Hum Genet. 2014;94:818–26.

NOTES

Jarvik, Gail PAmendola, Laura MBerg, Jonathan SBrothers, KyleClayton, Ellen WChung, WendyEvans, Barbara JEvans, James PFullerton, Stephanie MGallego, Carlos JGarrison, Nanibaa' AGray, Stacy WHolm, Ingrid AKullo, Iftikhar JLehmann, Lisa SoleymaniMcCarty, CathyProws, Cynthia ARehm, Heidi LSharp, Richard RSalama, JosephSanderson, SaskiaVan Driest, Sara LWilliams, Marc SWolf, Susan MWolf, Wendy ABurke, Wylieeng1R01CA154517/CA/NCI NIH HHS/R01 CA154517/CA/NCI NIH HHS/R01 HG004500/HG/NHGRI NIH HHS/R01 HG006615/HG/NHGRI NIH HHS/R21HG00612/HG/NHGRI NIH HHS/U01 G006492/PHS HHS/U01 HG006375/HG/NHGRI NIH HHS/U01 HG006378/HG/NHGRI NIH HHS/U01 HG006379/HG/NHGRI NIH HHS/U01 HG006380/HG/NHGRI NIH HHS/U01 HG006382/HG/NHGRI NIH HHS/U01 HG006487/HG/NHGRI NIH HHS/U01 HG006492/HG/NHGRI NIH HHS/U01 HG007307/HG/NHGRI NIH HHS/U01HG006375/HG/NHGRI NIH HHS/U01HG006378/HG/NHGRI NIH HHS/U01HG006379/HG/NHGRI NIH HHS/U01HG006382/HG/NHGRI NIH HHS/U01HG006500/HG/NHGRI NIH HHS/U01HG006507/HG/NHGRI NIH HHS/U01HG006828/HG/NHGRI NIH HHS/U01HG007307/HG/NHGRI NIH HHS/U01HG04603/HG/NHGRI NIH HHS/Research Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov't2014/05/13 06:00Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8.

Abstract

As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes should be returned in the clinical setting has raised the question of whether comparable recommendations should be considered in research settings. The Clinical Sequencing Exploratory Research (CSER) Consortium and the Electronic Medical Records and Genomics (eMERGE) Network are multisite research programs that aim to develop practical strategies for addressing questions concerning the return of results in genomic research. CSER and eMERGE committees have identified areas of consensus regarding the return of genomic results to research participants. In most circumstances, if results meet an actionability threshold for return and the research participant has consented to return, genomic results, along with referral for appropriate clinical follow-up, should be offered to participants. However, participants have a right to decline the receipt of genomic results, even when doing so might be viewed as a threat to the participants' health. Research investigators should be prepared to return research results and incidental findings discovered in the course of their research and meeting an actionability threshold, but they have no ethical obligation to actively search for such results. These positions are consistent with the recognition that clinical research is distinct from medical care in both its aims and its guiding moral principles.
Last updated on 02/25/2023