Aims: Implementation of any new medical test, including germline genome sequencing (GS) to inform cancer risk, should take place only when a test is effective, ethically justifiable and acceptable to a population. Little empirical evidence exists on patient views regarding GS for cancer risk.
Methods: Participants with a likely genetic basis for their cancer and their blood relatives were recruited to undergo GS and invited to complete questionnaires at the time of testing. A subset also participated in qualitative interviews about their views regarding access to GS to detect cancer risk, which were analysed by thematic analysis.
Results: The planned accrual target was reached with 536 participants (response rate of 92%). Forty participants were interviewed before saturation was reached, with no refusals. Probands and relatives had similar views on access to GS. Significantly more participants thought that if available, GS should be offered to their relatives (91%) compared with GS being offered to everyone (66%) (a difference of 25%: 95% CI: 20% to 31%, p < 0.001). Similarly, more participants thought that ‘anyone who requests it’ should have the GS (91%) than everyone (66%), (a difference of 25%: 95% CI: 21% to 31%, p < 0.001). Males were less likely than females to think that relatives should have access to GS (Exp(B)=0.43: 95% CI, 0.19 to 0.96: p=.039). Rationales for these views elicited during interviews reflected maximising the sound use of resources. Challenges to introducing community screening via GS to limit cancer burden were raised, including the current limits of science and individual ability to cope with uncertain results.
Conclusions: Participants undergoing GS supported cancer risk testing for those with a family history of cancer but were concerned about the challenges of designing and implementing a population-based GS cancer screening program.