Abstract

http://ssrn.com/abstract=2316398
 


 



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


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 A. Holm


Children's Hospital Boston

Gail P. Jarvik


University of Washington - Division of Medical Genetics

Muin J. Khoury


Office of Public Health Genomics

Bartha Maria Knoppers


McGill University

Nancy A. 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 R. 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

June 24, 2013

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

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.

Number of Pages in PDF File: 6

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

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Date posted: August 30, 2013  

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 A. and Jarvik, Gail P. and Khoury, Muin J. and Knoppers, Bartha Maria and Press, Nancy A. and Ross, Lainie Friedman and Rothstein, Mark A. and Saal, Howard and Uhlmann, Wendy R. 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: http://ssrn.com/abstract=2316398

Contact Information

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 )
Chapel Hill, NC 27599
United States
Ingrid A. 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 J. Khoury
Office of Public Health Genomics ( email )
1600 Clifton Road
Atlanta, GA 30333
United States
404-498-0001 (Phone)
Bartha Maria Knoppers
McGill University ( email )
1001 Sherbrooke St. W
Montreal, Quebec H3A 1G5
Canada
Nancy A. 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 R. 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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