Use of a chatbot to increase uptake of cascade genetic testing

Abstract

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.

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

“…Much of the previous research has focused on tool mechanics and clinical impacts (Ireland et al 2021 ; Nazareth et al 2021 ; Sato et al 2021 ), whereas our work examined patient preferences through qualitative interviews. Work that has been conducted on patient acceptability of chatbots within genetics has been limited to a narrow set of functions or has been assessed within the adult cancer and screening populations (Nazareth et al 2021 ; Schmidlen et al 2019 , 2022 ; Siglen et al 2021 ; Wang et al 2015 ), whereas our work has examined acceptability within a range of diagnostic genetic testing scenarios.…”

“…In genomics, chatbots are being developed to assist with delivering various components of care (Heald et al 2020 ; Ireland et al 2021 ; Nazareth et al 2021 ; Sato et al 2021 ; Schmidlen et al 2019 ; Siglen et al 2021 ). For example, chatbots exist or are in development to support patients with pre-test counseling, result disclosure, communication with the health care team, notification of family members about results or the availability of cascade testing, and attending to distress and anxiety (Heald et al 2020 ; Ireland et al 2021 ; Nazareth et al 2021 ; Sato et al 2021 ; Schmidlen et al 2022 , 2019 ). However, much of the research into chatbots has focused on their medical accuracy (Nazareth et al 2021 ; Sato et al 2021 ), feasibility (Heald et al 2020 ), or potential impact on knowledge and decision-making (Ireland et al 2021 ).…”

“…This chatbot was also assessed for its role in sharing genetic test results and cascade testing information with family, and downstream chatbot engagement by the proband’s family members. These findings indicated that the chatbot was a viable tool for sharing information and cascade testing (Schmidlen et al 2022 ). While these studies provide preliminary evidence of positive user experiences and patient satisfaction with chatbots, evaluation has been limited to the functions of information provision or triage, with a focus on adult cancer or screening populations (Nazareth et al 2021 ; Schmidlen et al 2022 , 2019 ; Siglen et al 2021 ; Wang et al 2015 ).…”

“…These findings indicated that the chatbot was a viable tool for sharing information and cascade testing (Schmidlen et al 2022 ). While these studies provide preliminary evidence of positive user experiences and patient satisfaction with chatbots, evaluation has been limited to the functions of information provision or triage, with a focus on adult cancer or screening populations (Nazareth et al 2021 ; Schmidlen et al 2022 , 2019 ; Siglen et al 2021 ; Wang et al 2015 ). A more in-depth understanding of the appropriateness of these tools, including evidence on diverse users’ needs and preferences in non-cancer and non-screening settings, is required to develop patient-centered digital tool for a range of settings.…”

The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives

“…When considering approaches to encouraging at-risk relatives to ultimately seek cascade testing, programs have been designed to offer cascade testing at reduced rates or at no-charge for relatives ( Aktan-Collan et al, 2007 ; Caswell-Jin et al, 2019 ; Courtney et al, 2019 ; Invitae, 2021 ). Preliminary findings in a recent study demonstrated that chatbots are an effective means to facilitating cascade testing (data in press Schmidlen et al, 2022 ). Regardless of the approach, it is critical that methods used to encourage both results sharing and subsequent cascade testing are accessible to diverse populations ( Milo Rasouly et al, 2021 ).…”