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

Abstract

Background: Genetic testing to identify germline high-risk pathogenic variants in breast cancer susceptibility genes is increasingly part of the breast cancer diagnostic pathway. Novel patient-centred pathways may offer opportunity to expand capacity and reduce turnaround time.

Methods: We recruited 1140 women with unselected breast cancer to undergo germline genetic testing through the BRCA-DIRECT pathway (which includes a digital platform, postal saliva sampling and a genetic counsellor telephone helpline). 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%).

Results: 1001 (87.8%) participants progressed to receive their pre-test information and consented to testing. The primary outcome, uptake of genetic testing, was higher amongst 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 patient knowledge, anxiety, and satisfaction.

Conclusions: Findings demonstrate that standardised, digital information offers a non-inferior alternative to conventional genetic counselling, and an end-to-end patient-centred, digital pathway (supported by genetic counselling hotline) could feasibly be implemented into breast oncology settings.

Clinical trial registration: The study is registered with, and protocol available on, ClinicalTrials.gov (NCT04842799).

Fig. 1. The BRCA-DIRECT Pathway.

Flow diagram of steps completed in clinic, at home and online via the BRCA-DIRECT website by participants  during the BRCA-DIRECT testing pathway.

Fig. 2. CONSORT flow chart for recruitment to the BRCA-DIRECT study.

Participants split depending on allocation to the fully digital arm (digital pre-test information) or the partially digital arm (pre-test genetic counsellor consultation) following consent to study.

Fig. 3. Healthcare professional satisfaction with the BRCA-DIRECT pathway.

Healthcare professional reported agreement (1 strongly disagree, 5 – strongly agree), on whether aspects of the BRCA-DIRECT pathway were equivalent (or superior) in comparison to current standard-of-care.