Impact of a digital platform on genetic counselling encounters in the screening context

Digital tools for pre-test education provision and decision support could assist the scalability of opportunistic genomic screening. We evaluated the utility of a digital platform, the Genetics Adviser (GA), for supporting parental decisions about screening for additional findings in the paediatric acute care context. Parents of children who had completed ultrarapid diagnostic genomic testing in the acute setting were offered opportunistic screening following hospital discharge. Interested participants were provided with optional access to GA and offered pre-test genetic counselling (GC). GC sessions were audio-recorded, transcribed verbatim, and participant/counsellor interactions qualitatively analysed to examine the impact of GA use on counselling sessions. Surveys were administered: prior to and after pre-test GC; 1 month after return of results. One hundred and sixty-seven families were offered genomic screening and given access to GA. Family engagement with GA was 52% (87/167) overall, with three-quarters (81/119) of those who attended genetic counselling having engaged with GA. GA use impacted genetic counselling: in consultations where not all parents used GA, more concerns were raised and more questions asked about topics included in GA; GCs also spent more time clarifying values or understanding. GA users correctly answered more knowledge questions at every survey time point. Eighty-three per cent of post-result survey respondents believed GA contained enough information for them to make decisions about opportunistic screening without additional genetic counselling. These findings demonstrate the utility of GA in supporting the scalability of opportunistic genomic screening.