BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial

Abstract

BACKGROUNDGenetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is an important step in the breast cancer diagnostic pathway. To expand capacity and reduce turnaround time, testing is increasingly offered within mainstream oncology services, rather than via referral to clinical genetics. However, mainstream capacity is also stretched, as testing is offered to greater proportions of patients. Novel patient-centred pathways may offer opportunity for improved access. PATIENTS AND METHODSWe recruited 1,140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT digital pathway; compromising at-home saliva sampling and consenting, with access to a digital dashboard to complete tasks and a genetic counselling telephone hotline. Ahead of consenting to the test, participants were randomised to receive information about genetic testing digitally (569/1140, 49.9%) or via a pre-test genetic counselling consultation (571/1140, 50.1%). The primary outcome was uptake of genetic testing. We also measured patient knowledge, anxiety, and satisfaction, and conducted a healthcare professional survey. RESULTS1,001 (87.8%) participants progressed to receive their pre-test information and consented to testing. Uptake was higher within participants randomised to receive digital information compared with those randomised to a pre-test genetic counselling consultation (90.8% (95% CI: 88.5% to 93.1%) vs 84.7% (95% CI: 81.8% to 87.6%), p=0.002, adjusted for participant age and site). Non-inferiority was observed in relation to all other outcomes evaluated. Usage of the telephone hotline was modest (<20% of participants; 1,441 total minutes, 344 clinical minutes recorded) and, of 37 healthcare professionals surveyed, there was majority agreement that all elements of the pathway were equivalent to current standard-of-care. CONCLUSIONFindings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling consultation, and that an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into mainstream breast oncology settings.