Lay perspectives on receiving different types of genomic secondary findings: a qualitative vignette study

Journal article

Genome‐wide sequencing may generate secondary findings (SFs). It is recommended that validated, clinically actionable SFs are reported back to patients/research participants. To explore publics’ perspectives on the best ways to do this, we performed a vignette study among Finnish adults. Our aim was to explore how lay people react to different types of hypothetical genomic SFs. Participants received a hypothetical letter revealing a SF predisposing to a severe but actionable disease—cardiovascular disease (familial hypercholesterolemia, long QT syndrome) or cancer (Lynch syndrome, Li–Fraumeni syndrome). Participants (N = 29) wrote down their initial reactions, and discussed (N = 23) these in focus groups. Data were analyzed using inductive thematic analysis. Reactions to hypothetical SFs varied according to perceived severity and familiarity of the diseases. SFs for cancer were perceived as more threatening than for cardiovascular diseases, but less distressing than risk for psychiatric or neurological disorders, which participants spontaneously brought up. Illness severity in terms of lived experience, availability of treatment, stigma, and individual’s responsibility to control risk were perceived to vary across these disease types. In addition to clinical validity and utility, SF reporting practices need to take into account potential familiarity and lay illness representations of different diseases. Illness representations may influence willingness to receive SFs, and individuals’ reactions to this information.

Authors: Vornanen, M; Aktan-Collan, K; Hallowell, N; Kontinnen, H; Haukkala, A

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: Springer Verlag
• Journal: Journal of Genetic Counseling
• Volume: 28
• Issue: 2
• Pages: 343-354
• Publication date: 2018-12-14
• Acceptance date: 2018-08-02
• DOI: 10.1007/s10897-018-0288-7
• EISSN: 1573-3599
• ISSN: 1059-7700
• Keywords: illness representations; secondary findings; public perspective; qualitative vignette study; Li–Fraumeni syndrome; whole genome sequencing; long QT syndrome; familial hypercholesterolemia; lynch syndrome; incidental findings