BRCA-DIRECT digital pathway for diagnostic germline genetic testing within a UK breast oncology setting: a randomised, non-inferiority trial
Mené au Royaume-Uni auprès de 1 140 patientes atteintes d'un cancer du sein ou d'un carcinome canalaire in situ de haut grade (âge moyen : 58,6 ans), cet essai évalue la non infériorité, par rapport à une intervention incluant une consultation de génétique constitutionnelle et du point de vue du taux d'utilisation du test génétique et du degré d'anxiété rapporté par les patientes, d'un parcours entièrement numérique via la plateforme BRCA-DIRECT
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).
British Journal of Cancer , article en libre accès, 2024