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

Abstract

Familial hypercholesterolemia (FH) is the most common genetic cardiovascular disorder and is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) at a young age. Men with FH have a greater than 50% risk for coronary heart disease (CHD) by 50 years of age, and women have a greater than 30% risk for CHD by 60 years of age (Ito, McGowan, & Moriarty, 2011). The estimated

Applying implementation science to improve care for familial hypercholesterolemia

“…The implications of a genetic literacy program to address these barriers found that providers improved their understanding about genetics and ability to provide accurate knowledge and advice while promoting genetic literacy to patients [13]. Similarly, for cascade screening of relatives, an international survey explored perspectives of patients on indirect and direct contact approaches for cascade screening and found that a majority of individuals supported direct outreach by their provider to their relatives to share their FH result [14]; however, this approach is seldom used.…”

“…Of the 153 articles in the improving care category, 116 were excluded, as they were relevant but either did not map to implementation strategies, focused on pediatric care, published between 2018 and 2020, duplicates, or not available in English. The remaining 37 were categorized into the following implementation strategies: 'assess for readiness and identify barriers and facilitators' [9], 'develop and organize quality monitoring systems' [14], 'create new clinical teams' [2], 'facilitate relay of clinical data to providers' [4], and 'involve patients and family members' [8]. Table 2 lists and defines the mapped ERIC implementation strategies.…”

“…A search using the term ‘familial hypercholesterolemia’ returned 1350 articles from November 2018 to July 2021. Among these, there were 153 articles related to improving FH care; 1156 were excluded and the remaining 37 were mapped to the ERIC compilation of strategies: assess for readiness and identify barriers and facilitators [9], develop and organize quality monitoring systems [14], create new clinical teams [2], facilitate relay of clinical data to providers [4], and involve patients and family members [8]. There were only 8 of 37 studies that utilized an implementation science theory, model, or framework and two that explicitly addressed health disparities or equity.…”

A Focus Group Study of Perceptions of Genetic Risk Disclosure in Members of the Public in Sweden: “I’ll Phone the Five Closest Ones, but What Happens to the Other Ten?”

“…As a rule, our interviewees acknowledged the importance and urgency of sharing health-related genetic information among relatives who might benefit from such knowledge. However, they also identified several emotional and logistic challenges, such as geographical distances, lack of social contact and tense relations which have previously been described in patients and genetic counselees [31,36,43,47,48]. One way to understand the swell of negative emotions in these situations is that they are caused by conflicting duties.…”

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

“…There are a variety of reasons for underdiagnosis of FH, including lack of systematic cholesterol screening in children and adults and a lack of awareness about FH among healthcare clinicians [ 5 , 6 , 7 , 8 ]. 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 ].…”