Use of a chatbot to increase uptake of cascade genetic testing.

Successful proband-mediated family communication and subsequent cascade genetic testing uptake requires interventions that present information clearly, in sufficient detail, and with medical authority. To facilitate family communication for patients receiving clinically actionable results via the MyCode® Community Health Initiative, a Family Sharing Tool (FST) and a cascade chatbot were developed. FST is an electronic mechanism allowing patients to share genetic test results with relatives via chatbot. The cascade chatbot describes the proband's result, associated disease risks, and recommended management and captures whether the user is a blood relative or caregiver, sex, and relationship to the proband. FST and cascade chatbot uptake among MyCode® probands and relatives was tracked from August 2018 through February 2020. Cascade genetic testing uptake was collected from testing laboratories as number of cascades per proband. Fifty-eight percent (316/543) of probands consented to FST; 42% (227/543) declined. Receipt preferences were patient electronic health record (EHR) portal (52%), email (29%), and text (19%). Patient EHR portal users (p < 0.001) and younger patients were more likely to consent (p < 0.001). FST was deployed to 308 probands. Fifty-nine percent (183/308) opened; of those, 56% (102/183) used FST to send a cascade chatbot to relatives. These 102 probands shared a cascade chatbot with 377 relatives. Sixty-two percent (235/377) of relatives opened; of these, 69% (161/235) started, and of these, 57% (92/161) completed the cascade chatbot. Cascade genetic testing uptake was significantly greater among relatives of probands who consented to the FST (M = 2.34 cascades, SD = 2.10) than relatives of probands who declined (M = 1.40 cascades, SD = 0.82, p < 0.001). Proband age was not a significant predictor of cascade genetic testing uptake. Further work is needed to better understand factors impacting proband use of FST and relative use of cascade chatbots.