Perspectives from individuals with familial hypercholesterolemia on direct contact in cascade screening

Abstract

Familial hypercholesterolemia (FH) is the most common inherited form of high cholesterol that significantly increases the risk for coronary artery disease. Early detection and treatment can decrease morbidity and mortality and provide important risk information to family members. However, FH remains vastly underdiagnosed and undertreated. Cascade screening is the process of iteratively testing first-degree relatives for a genetic disease. It has been shown to effectively identify individuals with undiagnosed FH. The majority of research on methods for cascade screening has been conducted outside of the United States (U.S.). For indirect contact, index cases encourage relatives to undergo testing, and for direct contact, healthcare providers (HCP) obtain the index case's consent to contact relatives and offer information. Currently, there is not an accepted strategy for cascade screening programs in the U.S. This study investigated perspectives on direct and indirect contact for cascade screening from individuals with FH. An online survey was designed in collaboration with the Familial Hypercholesterolemia Foundation (FHF). Fifty-eight percent of U.S. index cases (11/19, 57.9%) and all international index cases (8/8, 100%) indicated willingness to provide contact information for certain at-risk relatives to a HCP for the purpose of directly informing relatives of their risk for FH in a hypothetical scenario. These findings provide an example of U.S. data and additional international data suggesting that some individuals with FH may consider direct contact a reasonable approach to improve screening uptake among family members. These initial findings need further confirmation in a larger group.

Keywords: cascade screening; cascade testing; communication; direct cascade screening; direct contact; familial hypercholesterolemia; genetic counseling.