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Background: Relatives of probands diagnosed with familial hypercholesterolemia (FH) should undergo cascade testing for FH., Objectives: The purpose of this study was to evaluate probands' choices of innovative strategies to communicate their FH result with relatives and facilitate cascade testing uptake., Methods: Probands with an FH genetic result from the MyCode Community Health Initiative could choose to share their FH result with adult blood relatives via the Family and Healthcare Professional Packet (packet), family sharing and cascade chatbots (chatbot), and/or FH Outreach and Support Program (direct contact). Cascade testing uptake was measured as reported completion of genetic or cholesterol testing. Generalized estimating equations models were used to identify factors associated with testing., Results: One hundred seventy five probands received an FH result, median age was 58.9 (IQR: 44.9-69.3), and 58.9% were female. Probands shared information about 1,915 adult and 163 minor relatives (11.9 relatives per proband). Seventy percent of probands (121/175) selected at least one strategy for at least one adult relative. An average of 1.2 strategies was selected per adult relative. Cascade testing was completed for 26.6% (144/541) of adults with at least one strategy selected, 2.4% (33/1,374) of adults without a strategy selected, and 25.2% (41/163) of minor relatives. Factors associated with increased cascade testing uptake were selection of at least one strategy (6.32 higher odds), specifically, selection of direct contact (16.78 higher odds)., Conclusions: Strategies implemented improved FH cascade testing uptake compared to previous estimates and in families where no strategy was selected. Overall uptake remains insufficient, which can be attributed to probands reluctance to select a strategy for many relatives., Competing Interests: Dr Jones is a consultant for Novartis. Dr McGowan is on the advisory board for Novartis. Dr Gidding is a consultant for Esperion. Dr Sturm is an employee and stockholder in 23andMe; and on the advisory board for Nest Genomics. Research reported in this publication was supported by the 10.13039/100000050National Heart, Lung, And Blood Institute of the 10.13039/100000002National Institutes of Health under Award Number R01HL148246. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose., (© 2024 The Authors.)

Objective: To assess use of two web-based conversational agents, the Family Sharing Chatbot (FSC) and One Month Chatbot (OMC), by individuals with familial hypercholesterolemia (FH)., Methods: FSC and OMC were sent using an opt-out methodology to a cohort of individuals receiving a FH genetic result. Data from 7/1/2021 through 5/12/2022 was obtained from the electronic health record and the chatbots' HIPAA-secure web portal., Results: Of 175 subjects, 21 (12%) opted out of the chatbots. Older individuals were more likely to opt out. Most (91/154, 59%) preferred receiving chatbots via the patient EHR portal. Seventy-five individuals (49%) clicked the FSC link, 62 (40%) interacted, and 36 (23%) shared a chatbot about their FH result with at least one relative. Ninety-two of the subjects received OMC, 22 (23%) clicked the link and 20 (21%) interacted. Individuals who shared were majority female and younger on average than the overall cohort. Reminders tended to increase engagement., Conclusion: Results demonstrate characteristics relevant to chatbot engagement. Individuals may be more inclined to receive chatbots if integrated within the patient EHR portal. Frequent reminders can potentially improve chatbot utilization., Innovation: FSC and OMC employ innovative digital health technology that can facilitate family communication about hereditary conditions., Competing Interests: The following authors have conflicts of interest to report: Tara J. Schmidlen and Sarah K. Savage are employees and shareholders of Invitae. Amy C. Sturm is an employee and shareholder of 23andMe. Laney K. Jones is a consultant for Novartis., (© 2023 The Authors.)