Return of genomic results to research participants: the floor, the ceiling, and the choices in between
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego, Nanibaa' A Garrison, Stacy W Gray, Ingrid A Holm, Iftikhar J Kullo, Lisa Soleymani Lehmann, Cathy McCarty, Cynthia A Prows, Heidi L Rehm, Richard R Sharp, Joseph Salama, Saskia Sanderson, Sara L Van Driest, Marc S Williams, Susan M Wolf, Wendy A Wolf, eMERGE Act-ROR Committee and CERC Committee, CSER Act-ROR Working Group, Wylie Burke, John Harley, Melanie Myers, Bahram Namjou, Sander Vinks, John Connolly, Brendan Keating, Glenn Gerhard, Agnes Sundaresan, Gerard Tromp, David Crosslin, Kathy Leppig, Cathy Wicklund, Christopher Chute, John Lynch, Mariza De Andrade, John Heit, Jen McCormick, Murray Brilliant, Terrie Kitchner, Marylyn Ritchie, Erwin Böttinger, Inga Peter, Stephen Persell, Laura Rasmussen-Torvik, Tracy McGregor, Dan Roden, Armand Antommaria, Rosetta Chiavacci, Andy Faucett, David Ledbetter, Janet Williams, Andrea Hartzler, Carolyn R Rohrer Vitek, Norm Frost, Kadija Ferryman, Carol Horowitz, Rosamond Rhodes, Randi Zinberg, Sharon Aufox, Vivian Pan, Rochelle Long, Erin Ramos, Jackie Odgis, Anastasia Wise, Sara Hull, Jonathan Gitlin, Robert Green, Danielle Metterville, Amy McGuire, Sek Won Kong, Sue Trinidad, David Veenstra, Myra Roche, Debra Skinner, Kelly Raspberry, Julianne O'Daniel, Will Parsons, Christine Eng, Susan Hilsenbeck, Dean Karavite, Laura Conlin, Nancy Spinner, Ian Krantz, Marni Falk, Avni Santani, Elizabeth Dechene, Matthew Dulik, Barbara Bernhardt, Scott Schuetze, Jessica Everett, Michele Caroline Gornick, Ben Wilfond, Holly Tabor, Amy A Lemke, Sue Richards, Katrina Goddard, Greg Cooper, Kelly East, Greg Barsh, Barbara Koenig, Eliezer Van Allen, Judy Garber, Jeremy Garrett, Ma'n Zawati, Michelle Lewis, Sarah Savage, Maureen Smith, Sameek Roychowdhury, Alice Bailey, Benjamin Berkman, Charlisse Caga Anan, Lucia Hindorff, Carolyn Hutter, Rosalind King, Rongling Li, Nicole Lockhart, Jean McEwen, Derek Scholes, Sheri Schully, Kathie Sun, Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego, Nanibaa' A Garrison, Stacy W Gray, Ingrid A Holm, Iftikhar J Kullo, Lisa Soleymani Lehmann, Cathy McCarty, Cynthia A Prows, Heidi L Rehm, Richard R Sharp, Joseph Salama, Saskia Sanderson, Sara L Van Driest, Marc S Williams, Susan M Wolf, Wendy A Wolf, eMERGE Act-ROR Committee and CERC Committee, CSER Act-ROR Working Group, Wylie Burke, John Harley, Melanie Myers, Bahram Namjou, Sander Vinks, John Connolly, Brendan Keating, Glenn Gerhard, Agnes Sundaresan, Gerard Tromp, David Crosslin, Kathy Leppig, Cathy Wicklund, Christopher Chute, John Lynch, Mariza De Andrade, John Heit, Jen McCormick, Murray Brilliant, Terrie Kitchner, Marylyn Ritchie, Erwin Böttinger, Inga Peter, Stephen Persell, Laura Rasmussen-Torvik, Tracy McGregor, Dan Roden, Armand Antommaria, Rosetta Chiavacci, Andy Faucett, David Ledbetter, Janet Williams, Andrea Hartzler, Carolyn R Rohrer Vitek, Norm Frost, Kadija Ferryman, Carol Horowitz, Rosamond Rhodes, Randi Zinberg, Sharon Aufox, Vivian Pan, Rochelle Long, Erin Ramos, Jackie Odgis, Anastasia Wise, Sara Hull, Jonathan Gitlin, Robert Green, Danielle Metterville, Amy McGuire, Sek Won Kong, Sue Trinidad, David Veenstra, Myra Roche, Debra Skinner, Kelly Raspberry, Julianne O'Daniel, Will Parsons, Christine Eng, Susan Hilsenbeck, Dean Karavite, Laura Conlin, Nancy Spinner, Ian Krantz, Marni Falk, Avni Santani, Elizabeth Dechene, Matthew Dulik, Barbara Bernhardt, Scott Schuetze, Jessica Everett, Michele Caroline Gornick, Ben Wilfond, Holly Tabor, Amy A Lemke, Sue Richards, Katrina Goddard, Greg Cooper, Kelly East, Greg Barsh, Barbara Koenig, Eliezer Van Allen, Judy Garber, Jeremy Garrett, Ma'n Zawati, Michelle Lewis, Sarah Savage, Maureen Smith, Sameek Roychowdhury, Alice Bailey, Benjamin Berkman, Charlisse Caga Anan, Lucia Hindorff, Carolyn Hutter, Rosalind King, Rongling Li, Nicole Lockhart, Jean McEwen, Derek Scholes, Sheri Schully, Kathie Sun
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.
Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Source: PubMed