Catherine M Stein1, Roselle Ponsaran2, Erika S Trapl1, Aaron J Goldenberg3. 1. Department of Population & Quantitative Health Sciences, Case Western Reserve University, Cleveland, OH, USA. 2. Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA. 3. Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA. aaron.goldenberg@case.edu.
Abstract
PURPOSE: While there has been a recent increase in scholarship around developing policies for the return of results from genetic sequencing, it is not clear whether these approaches are appropriate for genetic epidemiology studies. Because genetic epidemiological research increasingly utilizes genome sequencing methods, particularly in large data sets where researchers did not directly ascertain the subjects, it is important to understand researchers' perspectives on the return of results. METHODS: We conducted an online survey of members of the International Genetic Epidemiology Society to document the diversity of experiences and impressions regarding return of results. The survey contained both closed and open-ended questions. RESULTS: Among our respondents who enroll their own research participants, only 21% return secondary findings. Most respondents do not search their sequence data for clinically actionable findings not associated with their disease of interest. Many feel that genetic epidemiologists have a unique perspective on the return of results and that research studies should not follow the same procedures as clinical sequencing studies. CONCLUSION: Precision medicine initiatives that rely on both clinical and "big data" genomic research should account for variation in researcher perspectives and study design limitations when developing policies and standard practices regarding the return of results.
PURPOSE: While there has been a recent increase in scholarship around developing policies for the return of results from genetic sequencing, it is not clear whether these approaches are appropriate for genetic epidemiology studies. Because genetic epidemiological research increasingly utilizes genome sequencing methods, particularly in large data sets where researchers did not directly ascertain the subjects, it is important to understand researchers' perspectives on the return of results. METHODS: We conducted an online survey of members of the International Genetic Epidemiology Society to document the diversity of experiences and impressions regarding return of results. The survey contained both closed and open-ended questions. RESULTS: Among our respondents who enroll their own research participants, only 21% return secondary findings. Most respondents do not search their sequence data for clinically actionable findings not associated with their disease of interest. Many feel that genetic epidemiologists have a unique perspective on the return of results and that research studies should not follow the same procedures as clinical sequencing studies. CONCLUSION: Precision medicine initiatives that rely on both clinical and "big data" genomic research should account for variation in researcher perspectives and study design limitations when developing policies and standard practices regarding the return of results.
Entities:
Keywords:
genetic epidemiology; incidental findings; research ethics; return of results
Authors: Danya F Vears; Joel T Minion; Stephanie J Roberts; James Cummings; Mavis Machirori; Mwenza Blell; Isabelle Budin-Ljøsne; Lorraine Cowley; Stephanie O M Dyke; Clara Gaff; Robert Green; Alison Hall; Amber L Johns; Bartha M Knoppers; Stephanie Mulrine; Christine Patch; Eva Winkler; Madeleine J Murtagh Journal: PLoS One Date: 2021-11-08 Impact factor: 3.240
Authors: Danya F Vears; Joel T Minion; Stephanie J Roberts; James Cummings; Mavis Machirori; Madeleine J Murtagh Journal: Per Med Date: 2021-04-06 Impact factor: 2.512