Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

Abstract

This trial tests the hypothesis that confirming a clinical diagnosis of familial hypercholesterolemia (FH) by finding a genetic mutation reduces patients' perceptions of control over the disease and adherence to risk-reducing behaviors. Three hundred forty-one families, comprising 341 hypercholesterolemia probands and 128 adult relatives, were randomized to one of two groups: (a) routine clinical diagnosis; (b) routine clinical diagnosis plus genetic testing (mutation searching in probands and direct gene testing in relatives). The main outcome measures were perceptions of control over hypercholesterolemia, adherence to cholesterol-lowering medication, diet, physical activity, and smoking. There was no support for the main hypothesis: finding a mutation had no impact on perceived control or adherence to risk-reducing behavior (all P-values > 0.10). While all groups believed that lowering cholesterol was an effective way of reducing the risk of a heart attack, participants in whom a mutation was found believed less strongly in the efficacy of diet in reducing their cholesterol level (P = 0.02 at 6 months) and showed a trend in believing more strongly in the efficacy of cholesterol-lowering medication (P = 0.06 at 6 months). In conclusion, finding a mutation to confirm a clinical diagnosis of FH in a previously aware population does not reduce perceptions of control or adherence to risk-reducing behaviors. The pattern of findings leads to the new hypothesis that genetic testing does not affect the extent to which people feel they have control over a condition, but does affect their perceptions of how control is most effectively achieved. Further work is needed to determine whether similar results will be obtained in populations with little previous awareness of their risks.

Is Information on Genetic Determinants of Obesity Helpful or Harmful for Obese People?—A Randomized Clinical Trial

“…In familial hypercholesterolemia, it was found that information about genetic backgrounds can reduce the beliefs that diets might be helpful. 7 The results of our study show that obese people highly appreciate a general consultation, and the additional inclusion of genetic information can lead to new insights about weight problem. This suggests that genetic information about obesity is well-received.…”

“…For familial hypercholesterolemia, it was shown that finding a mutation had no impact on perceived control over the disease, but participants believed less strongly in the efficacy of diet in reducing their cholesterol level. 7 Thus, knowing about the genetic etiology influenced the beliefs and motivation for behavior change.…”

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

“…DNA cascade screening is increasingly becoming the preferred approach for identifying FH in asymptomatic individuals, within the UK and across Europe (Leren 2004;Finnie 2010); however, as Marteau et al (2004) note, relatively little is known about the impact on participants, particularly those initiating the familial cascade. The recent introduction of DNA cascade screening for FH in Scotland, therefore, has provided an important and timely opportunity to explore index patients' views of this service.…”

“…While questions have been raised about the most efficient way of implementing familial cascading for FH (Marteau et al 2004;Minhas et al 2009), limited attention has been paid to index patients' preferences for different cascading methods. Some research suggests that direct cascading is perceived as acceptable to members of the public (Tonstad et al 1995) and family members (van Maarle et al 2001).…”

Knowing your genes: does this impact behaviour change?

“…The investigators found that those who had the mutations believed less strongly in the efficacy of diet in reducing cholesterol levels (P = 0·02) and demonstrated a trend in believing more strongly in the efficacy of cholesterol-lowering medication (P = 0·06). Therefore, the authors concluded that genetic testing does not affect the extent to which individuals believe that they have control over their health, but does affect their perceptions of how control is most effectively obtained (23) . Hollands et al investigated the effect of communicating risk assessment for Crohn's disease based on genotype on motivating smoking cessation for 24 h or longer, assessed at 6 months (24) .…”