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

BMC Med Genomics. 2021 Jun 26;14(1):167. doi: 10.1186/s12920-021-01016-8.


Background: Data 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.

Methods: Sixty-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.

Results: Cancer 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.

Conclusion: Participants 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.

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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genomics*