Recommendations for Returning Genomic Incidental Findings? We Need to Talk!

Genetics in Medicine, Vol. 15, DOI:10.1038/gim.2013.113

6 Pages Posted: 30 Aug 2013

See all articles by Wylie Burke

Wylie Burke

University of Washington - Department of Bioethics & Humanities

Armand H. Matheny Antommaria

Cincinnati Children's Hospital Medical Center

Robin Bennett

University of Washington - Department of Medical Genetics

Jeffrey Botkin

University of Utah - Pediatric Administration

Ellen Wright Clayton

Vanderbilt University - Law School

Gail E. Henderson

University of North Carolina (UNC) at Chapel Hill

Ingrid Holm

Children's Hospital Boston

Gail P. Jarvik

University of Washington - Division of Medical Genetics

Muin Khoury

Office of Public Health Genomics

Bartha Maria Knoppers

McGill University - Centre for Genomics and Policy

Nancy Press

Oregon Health and Science University

Lainie Friedman Ross

University of Chicago - Department of Pediatrics

Mark A. Rothstein

University of Louisville - Institute for Bioethics, Health Policy, and Law; University of Louisville - Louis D. Brandeis School of Law

Howard Saal

Cincinnati Children's Hospital Medical Center

Wendy Uhlmann

University of Michigan at Ann Arbor - Medical School

Benjamin Wilfond

University of Washington

Susan M. Wolf

University of Minnesota Law School

Ron Zimmern

Foundation for Genomics and Population Health

Date Written: June 24, 2013

Abstract

The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.

Keywords: biobank, bioethics, biorepository, genetics, genomics, human subjects research, incidental findings, research ethics; return of results

Suggested Citation

Burke, Wylie and Matheny Antommaria, Armand H. and Bennett, Robin and Botkin, Jeffrey and Wright Clayton, Ellen and Henderson, Gail E. and Holm, Ingrid and Jarvik, Gail P. and Khoury, Muin and Knoppers, Bartha Maria and Press, Nancy and Friedman Ross, Lainie and Rothstein, Mark A. and Saal, Howard and Uhlmann, Wendy and Wilfond, Benjamin and Wolf, Susan M. and Zimmern, Ron, Recommendations for Returning Genomic Incidental Findings? We Need to Talk! (June 24, 2013). Genetics in Medicine, Vol. 15, DOI:10.1038/gim.2013.113. Available at SSRN: https://ssrn.com/abstract=2316398

Wylie Burke (Contact Author)

University of Washington - Department of Bioethics & Humanities ( email )

Box 356340
1925 N.E. Pacific Street
Seattle, WA 98195-6340
United States

Armand H. Matheny Antommaria

Cincinnati Children's Hospital Medical Center ( email )

3333 Burnet Avenue
Cincinnati, OH 45229
United States

Robin Bennett

University of Washington - Department of Medical Genetics ( email )

Seattle, WA 98195
United States

Jeffrey Botkin

University of Utah - Pediatric Administration ( email )

1645 E. Campus Center
Salt Lake City, UT 84112
United States

Ellen Wright Clayton

Vanderbilt University - Law School ( email )

131 21st Avenue South
Nashville, TN 37203-1181
United States
615-322-1186 (Phone)
615-322-4548 (Fax)

Gail E. Henderson

University of North Carolina (UNC) at Chapel Hill ( email )

102 Ridge Road
Chapel Hill, NC NC 27514
United States

Ingrid Holm

Children's Hospital Boston ( email )

300 Longwood Avenue
Boston, MA 02115
United States
617-919-2338 (Phone)

Gail P. Jarvik

University of Washington - Division of Medical Genetics ( email )

Seattle, WA 98195
United States

Muin Khoury

Office of Public Health Genomics ( email )

1600 Clifton Road
Atlanta, GA 30333
United States
404-498-0001 (Phone)

Bartha Maria Knoppers

McGill University - Centre for Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

Nancy Press

Oregon Health and Science University ( email )

Schools of Nursing and Medicine
3455 SW US Veterans Hospital Road
Portland, OR 97239
United States
503-494-2535 (Phone)

Lainie Friedman Ross

University of Chicago - Department of Pediatrics ( email )

5841 S. Maryland Ave. MC 6082
Chicago, IL 60637
United States

Mark A. Rothstein

University of Louisville - Institute for Bioethics, Health Policy, and Law ( email )

Louisville, KY 40202
United States

HOME PAGE: http://www.louisville.edu/bioethics

University of Louisville - Louis D. Brandeis School of Law ( email )

Wilson W. Wyatt Hall
Louisville, KY 40292
United States

Howard Saal

Cincinnati Children's Hospital Medical Center ( email )

3333 Burnet Avenue
Cincinnati, OH 45229
United States
5136362438 (Phone)

Wendy Uhlmann

University of Michigan at Ann Arbor - Medical School ( email )

Ann Arbor, MI
United States

Benjamin Wilfond

University of Washington ( email )

Seattle Children's Hospital
1100 Olive Way, Suite 1200
Seattle, WA 98101
United States

Susan M. Wolf

University of Minnesota Law School ( email )

229 19th Avenue South
Minneapolis, MN 55455
United States
612-625-3406 (Phone)
612-624-9143 (Fax)

HOME PAGE: http://www.law.umn.edu/facultyprofiles/wolfs.html

Ron Zimmern

Foundation for Genomics and Population Health ( email )

2 Worts Causeway
Cambridge, Cambridgeshire CB1 8RN
United Kingdom
+44 (0) 1223 740 200 (Phone)

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