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

Abstract

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.

A Focus Group Study of Perceptions of Genetic Risk Disclosure in Members of the Public in Sweden: “I’ll Phone the Five Closest Ones, but What Happens to the Other Ten?”

“…The question was not about selecting one or the other mode of disclosure as the optimal approach but rather using a mix of both family-mediated and healthcare-mediated disclosure efforts, preferably with healthcare taking the main responsibility. Wishes for more active collaboration with HCPs has been reported in studies of Canadian cancer patients [28], US patients with hereditary cancer [31] and in patients, relatives and the public in the Netherlands [27]. In our data several constellations and approaches were envisioned.…”

“…Our respondents clearly solicited easily accessible and concrete risk information with visual aids to make the message understandable to laypeople. Focus group studies from Canada and Australia have also reported wishes for clear, brief and graphically illustrated risk information [28,54]. Besides these wishes, our respondents voiced a clear desire for information to be highly personalized, preferably based on their family situation and to include contact information to easily accessible HCPs.…”

“…A growing body of research indicates that a large majority of people in general want to receive actionable genetic risk information, and the "right to know" is something most people feel strongly about [25][26][27][28]. Public attitudes towards cancer genetic testing are also very positive [29,30], and high acceptance for direct contact approaches where healthcare professionals (HCPs) approach eligible relatives has been reported in Denmark, Sweden, France and the US [29][30][31][32].…”

“…Public attitudes towards cancer genetic testing are also very positive [29,30], and high acceptance for direct contact approaches where healthcare professionals (HCPs) approach eligible relatives has been reported in Denmark, Sweden, France and the US [29][30][31][32]. Factors associated with the desire to be informed of a genetic risk include the emotional relief when reducing uncertainty and the clinical usefulness of individual test results [25,28,33,34]. Although the family-mediated approach has been described as the preferred choice by patients and relatives, a more active involvement by healthcare professionals in the disclosure process is solicited [27,35].…”

Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting

“…Actionability of results has long been recognised as a criterion for returning GS results. Previous studies suggest that patients consider results with personal utility (such as for reproductive purposes) to be 'actionable', while researchers typically consider those with clinical utility to be 'actionable' [7,8] and therefore worthy of return [9][10][11]. Research also suggests that a person's preferences may be impacted by psychological factors, such as knowledge, worry about genetic risks [5], having genetically related children [12] and genetic causal beliefs [13], so that healthcare providers and patients may view the same results differently.…”