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

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.

Self-Rated Cardiovascular Risk and 15-Year Cardiovascular Mortality

“…Prior work consistently fi nds that self-rated CVD risk appears optimistically biased when compared with state-of-the-art epidemiologic models. [8][9][10]21,22 These observations lend compelling evidence that our fi ndings are not merely a result of confounding by one's objective baseline risk, but rather a prism of postbaseline phenomena. The current study indicates that holding optimistic perceptions of risk leads to advantages, at least for men.…”

Perceived Vulnerability to Heart Disease in Patients with Familial Hypercholesterolemia: A Qualitative Interview Study

“…11 Several factors are shown to be associated with an increased perceived vulnerability in patients with familial hypercholesterolemia: the pattern of heart disease in the family; high cholesterol levels; and experiencing symptoms of angina, anxiety, and depression. [12][13][14][15] A better understanding of how patients with familial hypercholesterolemia resolve their vulnerability to coronary heart disease may foster an individualized and improved clinical management.…”

Patients’ Understandings and Experiences of Familial Hypercholesterolemia

“…These suggest that FH is not associated with increased anxiety or reduced quality of life in the long term [24,25,26,27,28,29,30,31]. They also largely suggest that providing genetic or hereditary-based risk information does not lead to a sense of fatalism or mean that people are less likely to adhere to preventative regimes [30,32,33,34]. Nevertheless, these studies were almost exclusively quantitative, focusing on a predetermined range of issues and employing preframed sets of responses from which respondents were required to select.…”