Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes.
作者： Gabriel Lázaro-Muñoz , John M. Conley , Arlene M. Davis , Anya E.R. Prince , R. Jean Cadigan
关键词:
摘要: Background: Advances in genomics have led to calls for returning information about medically actionable genes (MAGs) patients, research subjects, biobank participants, and through screening programs, the general adult population. Which MAGs are returned affects harms benefits of every genetic testing endeavor. Despite published recommendations selection criteria return, scant data exist regarding how decision makers actually apply such criteria. Methods: The process used by researchers when selecting a preventive genomic sequencing program targeting population were examined. authors observed audio-recorded gene meetings, analyzed meeting transcripts, scoring sheets, handouts. Results: To select MAGs, committee imported, from preexisting project, “a semiquantitative metric” that scores on five Numerous subjective judgments conceptual challenges defining applying ...
sci-hub.se 参考文章(30)
Michelle Mancher, Dianne Miller Wolman, Sheldon Greenfield, Robin Graham, Earl Steinberg, Clinical Practice Guidelines We Can Trust ,(2013)
Jonathan S. Berg, Ann Katherine M. Foreman, Julianne M. O'Daniel, Jessica K. Booker, Lacey Boshe, Timothy Carey, Kristy R. Crooks, Brian C. Jensen, Eric T. Juengst, Kristy Lee, Daniel K. Nelson, Bradford C. Powell, Cynthia M. Powell, Myra I. Roche, Cecile Skrzynia, Natasha T. Strande, Karen E. Weck, Kirk C. Wilhelmsen, James P. Evans, A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing Genetics in Medicine. ,vol. 18, pp. 467- 475 ,(2016) , 10.1038/GIM.2015.104
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, Garrison Nanibaa’A, 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, 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, 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, Wylie Burke, None, Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between American Journal of Human Genetics. ,vol. 94, pp. 818- 826 ,(2014) , 10.1016/J.AJHG.2014.04.009
James P. Evans, Jonathan S. Berg, Andrew F. Olshan, Terry Magnuson, Barbara K. Rimer, We screen newborns, don’t we?: realizing the promise of public health genomics Genetics in Medicine. ,vol. 15, pp. 332- 334 ,(2013) , 10.1038/GIM.2013.11
Stephanie M. Fullerton, Wendy A. Wolf, Kyle B. Brothers, Ellen Wright Clayton, Dana C. Crawford, Joshua C. Denny, Philip Greenland, Barbara A. Koenig, Kathleen A. Leppig, Noralane M. Lindor, Catherine A. McCarty, Amy L. McGuire, Eugenia R. McPeek Hinz, Daniel B. Mirel, Erin M. Ramos, Marylyn D. Ritchie, Maureen E. Smith, Carol J. Waudby, Wylie Burke, Gail P. Jarvik, Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genetics in Medicine. ,vol. 14, pp. 424- 431 ,(2012) , 10.1038/GIM.2012.15
Anya E.R. Prince, Jonathan S. Berg, James P. Evans, Daniel E. Jonas, Gail Henderson, Genomic Screening of the General Adult Population: Key Concepts for Assessing Net Benefit with Systematic Evidence Reviews Genetics in Medicine. ,vol. 17, pp. 441- 443 ,(2015) , 10.1038/GIM.2014.129
Jonathan M. Kocarnik, Stephanie M. Fullerton, Returning Pleiotropic Results From Genetic Testing to Patients and Research Participants JAMA. ,vol. 311, pp. 795- 796 ,(2014) , 10.1001/JAMA.2014.369
Robert Klitzman, Brigitte Buquez, Paul S. Appelbaum, Abby Fyer, Wendy K. Chung, Processes and factors involved in decisions regarding return of incidental genomic findings in research. Genetics in Medicine. ,vol. 16, pp. 311- 317 ,(2014) , 10.1038/GIM.2013.140
Katrina A.B. Goddard, Evelyn P. Whitlock, Jonathan S. Berg, Marc S. Williams, Elizabeth M. Webber, Jennifer A. Webster, Jennifer S. Lin, Kasmintan A. Schrader, Doug Campos-Outcalt, Kenneth Offit, Heather Spencer Feigelson, Celine Hollombe, Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies. Genetics in Medicine. ,vol. 15, pp. 721- 728 ,(2013) , 10.1038/GIM.2013.37
S. M. Wolf, G. J. Annas, S. Elias, Patient Autonomy and Incidental Findings in Clinical Genomics Science. ,vol. 340, pp. 1049- 1050 ,(2013) , 10.1126/SCIENCE.1239119