Whether, when, how, and how much? General public’s and cancer patients’ views about the disclosure of genomic secondary findings

BMC Medical Genomics

Yann Joly¹  Zaki El Haffaf²  Jude Emmanuel Cléophat³  Michel Dorval⁴  Stephanie Collins⁵  Benjamin Malo⁶  Jocelyne Chiquette⁷  Hermann Nabi⁸  Vincent Fradet⁹ 

[1] Center of Genomics and Policy, McGill University, Montreal, QC, Canada;Division of Genetics, Department of Medicine, Hospital Center of the University of Montreal, Montreal, QC, Canada;Oncology Division, Research Center of the Hospital Center of the University of Montreal, Montreal, QC, Canada;Faculty of Pharmacy, Laval University, Quebec City, QC, Canada;Oncology Division, Research Center of the CHU de Québec-Laval University, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, G1S 4L8, Québec, QC, Canada;Faculty of Pharmacy, Laval University, Quebec City, QC, Canada;Oncology Division, Research Center of the CHU de Québec-Laval University, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, G1S 4L8, Québec, QC, Canada;Laval University Cancer Research Center, Quebec City, QC, Canada;Research Center of the Chaudière-Appalaches Integrated Center for Health and Social Services, Lévis, QC, Canada;Faculty of Pharmacy, University of Montreal, Montreal, QC, Canada;Infectious and Immune Diseases Division, Research center of the Quebec City University Hospital, Quebec City, QC, Canada;Oncology Division, Research Center of the CHU de Québec-Laval University, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, G1S 4L8, Québec, QC, Canada;Department of Family Medicine and Emergency Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada;Oncology Division, Research Center of the CHU de Québec-Laval University, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, G1S 4L8, Québec, QC, Canada;Laval University Cancer Research Center, Quebec City, QC, Canada;Department of Social and Preventive Medicine, Faculty of Medicine, Laval University, Quebec City, QC, Canada;Oncology Division, Research Center of the CHU de Québec-Laval University, Hôpital du Saint-Sacrement, 1050, chemin Sainte-Foy, G1S 4L8, Québec, QC, Canada;Laval University Cancer Research Center, Quebec City, QC, Canada;Department of Surgery, Faculty of Medicine, Laval University, Quebec City, QC, Canada;

关键词: Focus groups;    Genomics;    Secondary findings;    Genetic testing;    Genome sequencing;    Confidentiality;    Canada;    Disclosure;    Qualitative research;    Neoplasm;   

DOI  :  10.1186/s12920-021-01016-8

来源: Springer

【 摘 要 】

BackgroundData on the modalities of disclosing genomic secondary findings (SFs) remain scarce. We explore cancer patients’ and the general public’s perspectives about disclosing genomic SFs and the modalities of such disclosure.MethodsSixty-one cancer patients (n = 29) and members of the public (n = 32) participated in eight focus groups in Montreal and Quebec City, Canada. They were asked to provide their perspectives of five fictitious vignettes related to medically actionable and non-actionable SFs. Two researchers used a codification framework to conduct a thematic content analysis of the group discussion transcripts.ResultsCancer patients and members of the public were open to receive genomic SFs, considering their potential clinical and personal utility. They believed that the right to know or not and share or not such findings should remain the patient’s decision. They thought that the disclosure of SFs should be made mainly in person by the prescribing clinician. Maintaining confidentiality when so requested and preventing genetic discrimination were considered essential.ConclusionParticipants in this study welcomed the prospect of disclosing genomic SFs, as long as the right to choose to know or not to know is preserved. They called for the development of policies and practice guidelines that aim to protect genetic information confidentiality as well as the autonomy, physical and psychosocial wellbeing of patients and families.

【 授权许可】

CC BY