Abstract
Cardiovascular disease (CVD) is the leading cause of death in the United States (US), with familial hypercholesterolemia (FH) being a major inherited and genetic risk factor for premature CVD and atherosclerosis. Genetic testing has helped patients and providers confirm the presence of known pathogenic and likely pathogenic variations in FH-associated genes. Key organizations, such as the Centers for Disease Control and Prevention (CDC), American Heart Association (AHA), FH Foundation, and National Lipid Association (NLA), have recognized the clinical utility of FH genetic testing. However, FH genetic testing is underutilized in clinical practice in the US for reasons that are underexplored through the lens of implementation science. In this commentary, we discuss seven key implementation challenges that must be overcome to strengthen the clinical adoption of FH genetic testing in the US. These implementation challenges center on evidence of cost-effectiveness, navigating patient and provider preferences and concerns, gender and ethnic diversity and representation in genetic testing, and establishing clinical consensus around FH genetic testing based on the latest and most relevant research findings. Overcoming these implementation challenges is imperative to the mission of reducing CVD risk in the US.
Highlights
Cardiovascular disease (CVD) is a long-standing and leading cause of death in the United States (US) [1]
Familial hypercholesterolemia (FH) is a genetic cardiovascular condition associated with an increased risk of premature CVD and atherosclerosis
We found that only one study published between the years 2016–2018 measured the cost-effectiveness of implementing its FH
Summary
Cardiovascular disease (CVD) is a long-standing and leading cause of death in the United States (US) [1]. Genetic testing (e.g., multi-panel testing and genomic sequencing) can confirm variations in FH-associated genes/biomarkers in individuals These genes/biomarkers are apolipoprotein B (ApoB), low density lipoprotein receptor (LDLR) and proprotein convertase subtilisin/kexin type 9 (PCSK9), lipase A (LIPA), signal-transducing adaptor protein 1 (STAP1), and apolipoprotein E (ApoE). Despite expert consensus and organizational efforts, FH genetic testing is underutilized in clinical practice in the US for reasons that are underexplored through the lens of implementation science In this commentary we discuss seven key implementation challenges that must be overcome to strengthen the clinical adoption of FH genetic testing in the US. (5) updating and clarifying FH genetic test indications based on the presence of certain FH phenotypes in relevant clinical guidelines; (6) determining best practices for communicating results from the reclassification of FH variants of unknown significance (VUS) and variants with conflicting evidence of pathogenicity at the patient-provider level; and (7) establishing a clearer pathogenicity assessment of FH variants to more accurately assess CVD risk in FH populations with various phenotypes
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