Genetic Testing Preferences and Intentions in U.S. Patients with Clinically Diagnosed Familial Hypercholesterolemia

PurposeFamilial Hypercholesterolemia (FH) is a common Mendelian disorder characterized by elevated LDL cholesterol levels, which if untreated can cause premature heart disease. Less than 10% of cases in the US are diagnosed, and uptake of genetic testing is suboptimal. This study investigates decisionmaking factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH.\n\nMethodsClinically diagnosed adults with FH and no genetic testing were recruited through the FH Foundation and lipid clinics. Participants completed a survey containing items capturing various reasons to engage in genetic testing.\n\nResultsExploratory factor analysis of survey items identified three factors: (1) aversion to FH genetic information, (2) curiosity regarding medical/family history, (3) and psychological reassurance. Psychological reassurance was, in turn, the only significant predictor of genetic testing intentions. The effect of reassurance was qualified by aversion such that the inverse association between aversion and genetic testing intentions was greater among those with low perceived reassurance.\n\nConclusionFindings suggest that clinically diagnosed patients decisions about FH genetic testing are driven principally by psychological reassurance.