Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia

Hannah Wand, Amy C. Sturm, Lori Erby, Iris Kindt, William M.P. Klein

Research output: Contribution to journalArticlepeer-review


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 United States are diagnosed. This study investigates decision-making factors associated with intentions to have FH genetic testing among patients clinically diagnosed with FH. Methods: Fifty-three 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: (a) aversion to FH genetic information, (b) curiosity regarding medical/family history, (c) and psychological reassurance. Psychological reassurance was, in turn, the only significant predictor of genetic testing intentions. The positive effect of reassurance on genetic testing intention was moderated by aversion such that individuals who were low in reassurance were more inclined to decline testing if aversion was high. Conclusion: Findings suggest that clinically diagnosed patients’ decisions about FH genetic testing are driven principally by psychological reassurance, particularly when low in aversion to FH genetic information.

Original languageEnglish (US)
Pages (from-to)919-927
Number of pages9
JournalJournal of Genetic Counseling
Issue number6
StatePublished - Dec 2020


  • clinical diagnosis
  • decision-making
  • familial hypercholesterolemia
  • genetic counseling
  • genetic diagnosis
  • genetic testing
  • genetic testing intentions
  • genetic testing predictors
  • genetic testing utility
  • patient preference
  • public health

ASJC Scopus subject areas

  • Genetics(clinical)


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