Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study

Laney K Jones; Katrina M Romagnoli; Tyler J Schubert; Katarina Clegg; H Lester Kirchner; Yirui Hu; Dylan Cawley; Victoria Norelli; Marc S Williams; Samuel S Gidding; Alanna K Rahm

doi:10.1016/j.jacl.2024.01.001

Using implementation science to develop a familial hypercholesterolemia screening program in primary care: The CARE-FH study

J Clin Lipidol. 2024 Jan 4:S1933-2874(24)00002-3. doi: 10.1016/j.jacl.2024.01.001. Online ahead of print.

Authors

Affiliations

¹ Department of Genomic Health, Research Institute, Geisinger, Danville, PA 17822, USA (Drs Jones, Schubert, Clegg, Cawley, Norelli, Williams, Gidding and Rahm); Heart and Vascular Institute, Geisinger, Danville, PA 17822, USA (Drs Jones). Electronic address: https://twitter.com/LaneyJonesRx.
² Department of Population Health Sciences, Research Institute, Geisinger, Danville, PA 17822, USA (Drs Romagnoli, Kirchner and Hu).
³ Department of Genomic Health, Research Institute, Geisinger, Danville, PA 17822, USA (Drs Jones, Schubert, Clegg, Cawley, Norelli, Williams, Gidding and Rahm); Geisinger Commonwealth School of Medicine, Scranton, PA 18510, USA (Drs Schubert and Clegg).
⁴ Department of Genomic Health, Research Institute, Geisinger, Danville, PA 17822, USA (Drs Jones, Schubert, Clegg, Cawley, Norelli, Williams, Gidding and Rahm).

PMID: 38228467
DOI: 10.1016/j.jacl.2024.01.001

Abstract

Background: We designed the Collaborative Approach to Reach Everyone with familial hypercholesterolemia (CARE-FH) clinical trial to improve FH screening in primary care and facilitate guideline-based care.

Objective: The goal was to incorporate perspectives from end-users (healthcare system leaders, primary care clinicians, cardiologists, genetic counselors, nurses, and clinic staff) and improve translation of screening guidance into practice.

Methods: We partnered with end-users to sequentially define the current state of FH screening, assess acceptability, feasibility, and appropriateness of implementing an FH screening program, and select clinically actionable strategies at the patient-, clinician-, and system-level to be deployed as a package in the CARE-FH clinical trial. Methods informed by implementation science and human centered design included: contextual inquiries, surveys, and deliberative engagement sessions.

Results: Screening for FH occurred rarely in primary care, and then only after a cardiovascular event or sometimes due to a family history of high cholesterol or early heart attack. Surveys suggested FH screening in primary care was acceptable, appropriate, and feasible. Reported and observed barriers to screening include insufficient time at patient encounters to screen, cost and convenience of testing for patients, and knowledge regarding causes of dyslipidemia. Facilitators included clear guidance on screening criteria and new therapies to treat FH. These results led to the development of multilevel strategies that were presented to end-users, modified, and then pilot tested in one primary care clinic.

Conclusions: A refined implementation strategy package for FH screening was created with a goal of improving FH awareness, identification, and initiation of guideline-based care.

Clinical trial registration: https://clinicaltrials.gov/study/NCT05284513?id=NCT05284513&rank=1 Unique Identifier: NCT05284513.

Keywords: Familial hypercholesterolemia; Human centered design; Identification; Implementation science; Implementation strategies.

Associated data

ClinicalTrials.gov/NCT05284513