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.
Highlights
Familial hypercholesterolemia (FH) is a common inherited cholesterol disorder that increases the risk for premature cardiovascular disease by causing lifelong exposure to high cholesterol [1,2,3]
Two distinct and complementary initiatives in the U.S to improve identification of familial hypercholesterolemia (FH) include automated screening approaches of health-related data to identify those with possible FH and enhanced family communication methods and tools to improve cascade testing uptake by at-risk relatives [9,10,11,12,13,14]
Perceived Obstacles Specific to Family Communication Methods. Both groups of stakeholders discussed privacy and confidentiality concerns related to the sharing of patients’ information with relatives that would make the family communication methods unacceptable if not addressed. Some of these concerns relate to a misunderstanding of what is allowed under the Health Insurance Portability and Accountability Act (HIPAA); such as, not understanding that clinicians can directly contact at-risk relatives to share information about the proband with FH, with permission from the proband to share their diagnosis
Summary
Familial hypercholesterolemia (FH) is a common inherited cholesterol disorder that increases the risk for premature cardiovascular disease by causing lifelong exposure to high cholesterol [1,2,3]. Two distinct and complementary initiatives in the U.S to improve identification of FH include automated screening approaches of health-related data to identify those with possible FH and enhanced family communication methods and tools to improve cascade testing uptake by at-risk relatives [9,10,11,12,13,14]. Genotype-based approaches, using whole exome sequencing in at-risk populations, are emerging as a method to identify individuals with FH who have a very high positive predictive value, but cost may be a factor [3]. To improve uptake and success, we explored the implementation outcomes of acceptability, appropriateness, and feasibility of the distinct and complementary methods of identifying individuals with FH: automated screening approaches and innovative family communication methods. By acknowledging and addressing challenges to implementation prior to deployment, we can develop programs with the highest likelihood for success [27]
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