PT  - JOURNAL ARTICLE
AU  - Hannah Wand
AU  - Amy C. Sturm
AU  - Lori Erby
AU  - Iris Kindt
AU  - William M. P. Klein
TI  - Genetic Testing Preferences and Intentions in U.S. Patients with Clinically Diagnosed Familial Hypercholesterolemia
AID  - 10.1101/587923
DP  - 2019 Jan 01
TA  - bioRxiv
PG  - 587923
4099  - http://biorxiv.org/content/early/2019/03/28/587923.short
4100  - http://biorxiv.org/content/early/2019/03/28/587923.full
AB  - Purpose Familial 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.Methods Clinically 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.Results Exploratory 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.Conclusion Findings suggest that clinically diagnosed patients’ decisions about FH genetic testing are driven principally by psychological reassurance.