Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study

Abstract

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.

Use of a chatbot to increase uptake of cascade genetic testing

“…This was a study of patients enrolled in MyCode®, a large pre- study at Geisinger (Campbell-Salome et al, 2021;Jones et al, 2021).…”

Optimizing communication strategies and designing a comprehensive program to facilitate cascade testing for familial hypercholesterolemia

“…While participants often described wanting their primary care provider (PCP) to perform direct contact, they ultimately explained that the two most important characteristics were for the clinician to be an expert in FH and have a connection to the family. Asking PCPs to perform direct contact presents several key challenges including the lack of feasibility to incorporate direct contact into PCPs’ already full workload, lack of reimbursement for PCPs’ time, and limitations in their knowledge and confidence discussing genetic conditions and treating FH [ 17 , 36 , 37 ]. As such, genetic counselors were chosen to perform direct contact.…”

“…Chatbots and direct contact strategies can also help at-risk relatives navigate to cascade testing resources. Recent evidence found individuals with FH and clinicians described these novel communication strategies as both acceptable and appropriate as well as feasible to implement in current practice [ 17 ]. Moreover, there is evidence suggesting offering a combination of passive and active communication strategies to probands sharing an FH diagnosis with at-risk relatives can lead to a higher proportion of relatives being tested [ 18 ].…”

Patient experiences align with the familial hypercholesterolemia global call to action

“…Institutional review board approved interviews and focus groups were conducted, as a part of funded research studies[ 5 , 6 ], with individuals and families with FH from multiple U.S. health systems (Geisinger, Mercy Health System, Barnes Jewish Hospital) and the Family Heart Foundation community (FH volunteer advocates from all over the country were convened for an advocacy training in Arlington, VA) to identify barriers to diagnosis, cascade testing, and treatment ( Table 1 )[ 5 , 6 ]. Patient-centered perspectives were sought in these studies to develop solutions that can be implemented to improve FH care[ 7 , 8 ].…”