Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia

Am J Med Genet A. 2003 Jan 15;116A(2):136-43. doi: 10.1002/ajmg.a.10061.

Abstract

The aim of this article is threefold. First, we describe the accuracy of people's risk perception who have been screened on familial hypercholesterolemia (FH) in a family-based screening program. Second, we identify factors that modify risk perception. Finally, we show the influence of risk perception on subsequent preventive behavior. The risk perception of 556 screenees (677 participants, overall response = 82%) was measured by postal questionnaires on three occasions: at screening and 3 days and 7 months after the test result was reported to the patient. Presentation of the risk was precategorized and given both as numerical (1 in x) and as verbal probability. In addition, medication use and attitudes toward gene therapy were determined 7 months after screening. On average, the screenees underestimated their numeric risk of having FH and getting a myocardial infarction (MI). Furthermore, FH-positive screenees perceived that they were at greater risk of MI than FH negatives, and screenees with the highest actual risk used medication more, perceived a greater risk, and opted more often for future gene therapy. Risk perception of having FH was influenced by cholesterol level, while MI risk perception was affected by age, education, cholesterol level, and cardiovascular disease (CVD) in the family. We conclude that FH-positive screenees correctly perceive a higher risk of getting a heart attack than do FH-negative screenees. Screenees did not believe that MI was inevitable, and risk perception was associated with both medication use and the intention to opt for gene therapy, but not with other preventive measures. Thus, genetic risk notification seems to be acceptable and does not lead to aversion to preventive behavior.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Family Health
  • Female
  • Follow-Up Studies
  • Genetic Testing / methods*
  • Genetic Therapy
  • Humans
  • Hyperlipoproteinemia Type II / complications
  • Hyperlipoproteinemia Type II / genetics*
  • Hyperlipoproteinemia Type II / prevention & control
  • Male
  • Middle Aged
  • Mutation
  • Myocardial Infarction / etiology
  • Risk Factors
  • Surveys and Questionnaires