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Introduction: Despite familial hypercholesterolemia (FH) being a common cardiovascular genetic disorder, it is vastly underdiagnosed and undertreated. This is partly due to the lack of systematic screening methods to identify possible FH and little to no implementation of cascade screening approaches in the US. Screening models, such as machine learning algorithms, and family communication methods for cascade screening, such as chatbot technology and direct contact of at-risk relatives by a clinician, may help close the gap in FH identification. Methods: Focus groups were conducted with individuals with FH and clinicians. Focus groups were audio-recorded, transcribed, and coded for acceptability and feasibility of implementing screening models and family communication methods. Results: Individuals with FH and clinicians felt that models analyzing different data sources, including electronic health records, to screen for FH have the potential to activate patients and stimulate patient-clinician conversations about FH. While some expressed privacy and confidentiality concerns, individuals with FH found screening models acceptable, stating that these could have led to an earlier diagnosis and treatment and expressing their frustration with the status quo. Most had a strong desire to be notified of screening models’ outcomes at the same time as their clinician. Clinicians felt strongly that automated models would be helpful in identifying FH. Many with FH felt responsible for notifying their family about FH first; however, some indicated comfort with their clinician, healthcare system, or other professionals helping to communicate FH risk to their relatives via direct contact methods. Further, they indicated a strong willingness to use chatbots to share FH risk information with their relatives. Clinicians felt the need to support their patients and offer their services when sharing FH risk information with relatives, while individuals with FH expressed doubt that their clinicians would have time and resources to provide active support. Conclusions: Individuals with FH and clinicians agreed that FH screening models and enhanced family communication methods would be beneficial, acceptable, and feasible to implement in US healthcare systems.

Guided by the Conceptual Model of Implementation Research, we explored the acceptability, appropriateness, and feasibility of: (1) automated screening approaches utilizing existing health data to identify those who require subsequent diagnostic evaluation for familial hypercholesterolemia (FH) and (2) family communication methods including chatbots and direct contact to communicate information about inherited risk for FH. Focus groups were conducted with 22 individuals with FH (2 groups) and 20 clinicians (3 groups). These were recorded, transcribed, and analyzed using deductive (coded to implementation outcomes) and inductive (themes based on focus group discussions) methods. All stakeholders described these initiatives as: (1) acceptable and appropriate to identify individuals with FH and communicate risk with at-risk relatives, and (2) feasible to implement in current practice. Stakeholders cited current initiatives, outside of FH (e.g., pneumonia protocols, colon cancer and breast cancer screenings), that gave them confidence for successful implementation. Stakeholders described perceived obstacles, such as nonfamiliarity with FH, that could hinder implementation and potential solutions to improve systematic uptake of these initiatives. Automated health data screening, chatbots, and direct contact approaches may be useful for patients and clinicians to improve FH diagnosis and cascade screening.

Background Barriers to genetic testing and subsequent family cascade screening for familial hypercholesterolemia (FH) include cost, patient and provider awareness, privacy and discrimination concerns, need for a physician order, underutilization of genetic counselors, and family concerns about the implications of genetic testing for care. Objectives The objective of the study was to determine the uptake of genetic testing with cost and privacy removed. Methods The FH Foundation offered free genetic testing and counseling to patients in the patient portal of the CASCADE FH Registry, who had not previously undergone genetic testing for 3 genes associated with FH (LDLR, APOB, and PCSK9). The free testing offer was extended to first-degree relatives of participants who had a positive genetic test result for cascade screening. Results Of 435 eligible patients, 147 opted in to participate, 122 consented, and 110 (68.2% female, median age: 52 years) received genetic testing. Of the participants, 64 had a positive genetic test result for a pathogenic variant in LDLR (59) or APOB (5); 11 had a variant of uncertain significance. Only 3 first-degrees relatives underwent genetic testing. Conclusions Although there was substantial interest in genetic testing, uptake of family cascade screening was poor. Innovative approaches to increase family cascade screening should be explored.