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Am J Hum Genet. 2014 Jun 5;94(6):818-26. doi: 10.1016/j.ajhg.2014.04.009. Epub 2014 May 8.

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

Author information

1
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: pair@u.washington.edu.
2
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
3
University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
4
Hudson Alpha Institute for Biotechnology, Huntsville, AL 35806, USA; Department of Pediatrics, University of Louisville, Louisville, KY 40292, USA.
5
Department of Pediatrics and the Center for Biomedical Ethics and Society, Vanderbilt University Medical Center, Nashville, TN 37204, USA.
6
Columbia University, New York, NY 10032, USA.
7
University of Houston Law Center, Houston, TX 77204, USA.
8
Department of Bioethics and Humanities, University of Washington, Seattle, WA 98195, USA.
9
Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02138, USA; Dana-Farber Cancer Institute, Boston, MA 02215, USA.
10
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
11
Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.
12
Brigham and Women's Hospital and Harvard Medical School, Cambridge, MA 02138, USA.
13
Essentia Institute of Rural Health, Duluth, MN 55805, USA.
14
Divisions of Human Genetics and Patient Services, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
15
Biomedical Ethics Program, Mayo Clinic, Rochester, MN 55905, USA.
16
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
17
Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA.
18
Law School, Medical School, and Consortium on Law and Values in Health, Environment, & the Life Sciences, Minneapolis, University of Minnesota, Minneapolis, MN 55455, USA.
19
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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.

PMID:
24814192
PMCID:
PMC4121476
DOI:
10.1016/j.ajhg.2014.04.009
[Indexed for MEDLINE]
Free PMC Article

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