Implementation science and genetic testing for familial hypercholesterolemia.

Mitchell N Sarkies, David Sullivan, Gerald F Watts, Karen Birkenhead

Journal: Current opinion in lipidology 2025;36(2):41-48

PMID: 39590424

Abstract

PURPOSE OF REVIEW

Familial hypercholesterolemia is a treatable genetic disorder of cholesterol metabolism. Genetic testing is the most specific method for diagnosing familial hypercholesterolemia, but it remains underutilized. Implementation science aims to bridge the gap between evidence and practice and, thereby, support improved familial hypercholesterolemia care. This review presents the current evidence on the use of implementation science to improve the use of genetic testing for familial hypercholesterolemia.

RECENT FINDINGS

Recent research has focused on developing implementation strategies to improve the use of genetic testing, particularly cascade testing of at-risk blood relatives of known familial hypercholesterolemia cases. Stakeholder informed strategies aimed at improving communication between families and detection of familial hypercholesterolemia in primary care have been developed and implemented. Findings demonstrate implementation science methods can help remove barriers and improve the uptake of cascade genetic testing.

SUMMARY

Significant gaps in familial hypercholesterolemia care emphasize the importance of practical and realistic approaches to improve the detection of this preventable cause of premature heart disease, and recent efforts using implementation science have shown some promising results. More implementation science studies are needed that address the considerable gaps in familial hypercholesterolemia care, including the underutilization of genetic testing, so that all individuals receive the best clinical care.

Address: School of Health Sciences, Faculty of Medicine and Health.; Implementation Science Academy, Sydney Health Partners, University of Sydney.; Department of Chemical Pathology, Royal Prince Alfred Hospital, NSW Health Pathology.; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales.; School of Medicine, University of Western Australia.; Departments of Cardiology and Internal Medicine, Royal Perth Hospital, Perth, WA, Australia.

DOI: 10.1097/MOL.0000000000000967