BACKGROUND Genetic 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 METHODS We 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. RESULTS 1,001 (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. CONCLUSION Findings 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.

ZK declares honoraria for educational resources and advisory board, AstraZeneca. No further conflicts of interest are reported by the authors.

NCT04842799

This study was funded by Cancer Research UK [C61296/A29423]. This study represents independent research supported by the National Institute for Health and Care Research (NIHR) Biomedical Research Centre at The Royal Marsden NHS Foundation Trust and the Institute of Cancer Research, London. The views expressed are those of the author(s) and not necessarily those of the NIHR or the Department of Health and Social Care. DGE is supported by the Manchester National Institute for Health and Social Care Research Manchester Biomedical Research Centre (IS-BRC-1215-20007).

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This study was approved for sponsorship by The Institute of Cancer Research/Royal Marsden NHS Foundation Trust Joint Committee for Clinical Research. The study received favourable opinion from the London Chelsea Research Ethics Committee (REC) on 4 January 2021 (REC reference: 20/LO/1200) and full Health Research Authority (HRA) and Health and Care Research Wales (HCRW) approval on 4 January 2021. Participants gave informed consent to participate in the study before taking part.

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