LBA101 BRCA-DIRECT: A randomised UK study evaluating a digital pathway for germline genetic testing and non-inferiority of digitally-delivered information in women with breast cancer

Germline genetic testing affords opportunities for women with breast cancer (BC) relating to (i) treatment of a current BC, (ii) management of future cancer risks, and (iii) identification of at-risk family members through cascade testing. Testing remains restricted to <20% of BC diagnoses in the UK. New pathways that reduce clinical staff involvement are required to support expanded testing. We implemented a digital pathway, incorporating saliva sampling and a Genetic Counsellor (GC) telephone helpline, for germline BRCA1, BRCA2 and PALB2 testing (BRCA-testing) in unselected women with BC recruited from two UK oncology centres. Participants were randomised 1:1 to receive information about genetic testing via (i) a GC telephone appointment or (ii) the BRCA-DIRECT web application, to evaluate non-inferiority of standardised, written information compared with current standard-of-care in relation to uptake of BRCA-testing (primary outcome), patient knowledge, and anxiety. 1,140 patients consented to the study, with 571 (50.09%) randomised to receive information from a GC and 569 (49.91%) via BRCA-DIRECT. 1,001 (87.81%) consented to BRCA-testing, with uptake in the BRCA-DIRECT arm non-inferior to the telephone arm (difference +6.07% (95%CI 2.35-9.78%); NI margin -5.50%) as well as patient knowledge (difference -1.07 (-1.39 - -0.75); NI margin -1.40) and anxiety (difference +0.51 (-0.41 – 1.44); NI margin 3.00). Overall, of those who completed genetic testing, >90% reported a satisfaction score of 4 or 5 with the method of information delivery (1 – not satisfied; 5 – very satisfied). Of 19 healthcare professionals surveyed, when asked whether elements of the pathway were equivalent (or superior) to current standard-of-care, median overall score was 4.45 (IQR 4.27-5.00) (1-strongly disagree; 5-strongly agree). Outcomes demonstrate feasibility and acceptability of a counsellor-supported digital pathway as an alternative delivery model for germline genetic testing within UK breast oncology settings, potentially facilitating expanded eligibility to testing for women diagnosed with breast cancer and other groups.