Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care

Robust evidence is required to support decision-making about incorporating genomics into healthcare; patient perspectives are crucial. Prior studies centre on people giving research consent for testing, yet significant differences between research and clinical cohorts are well established. We investigated 1690 patients offered genomic testing during clinical care by a range of medical specialists, for rare diseases and cancer. Ninety per cent (1515) accepted testing. Of 74 decliners providing their reasons, 20 gave genomic-specific concerns. Impact and experiences of care were captured using surveys after consent (S1:RR 73%) and return of results (S2:RR 53%). We actively included those often missing from research, e.g. 8% of S2 respondents accepted telephone assistance - typically with interpreters - to complete surveys. Those who spoke English as an additional language were less likely to have received enough information at pre-test counselling (88% v 96%) and less likely to correctly answer questions about potential genomic test results. After receiving results, 10% (52/534) of respondents had moderate-high decision regret; predictors included English as an additional language and not receiving enough information at consent. Value from testing was quantified and compared: those with informative results valued their medical and personal utility; those with uninformative results derived social utility. Perceived personal control increased post-result for those with diagnostic results and decreased for those with uninformative results. Our results expand the evidence base available for genomic health technology assessment. On balance, genomic test results provide more value than harm, but equity issues need to be addressed to ensure all patients can benefit.