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

Marteau, T, Senior, V, Humphries, SE, Bobrow, M, Cranston, T, Crook, MA, Day, L, Fernandez, M, Horne, R, Iversen, A , Jackson, Z, Lynas, J, Middleton-Price, H, Savine, R, Sikorski, J, Watson, M, Weinman, J, Wierzbicki, AS and Wray, R (2004) Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial American Journal of Medical Genetics Part A, 128A (3). pp. 285-293.

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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. (C) 2004 Wiley-Liss, Inc.

Item Type: Article
Divisions : Surrey research (other units)
Authors :
Marteau, T
Humphries, SE
Bobrow, M
Cranston, T
Crook, MA
Day, L
Fernandez, M
Horne, R
Iversen, A
Jackson, Z
Lynas, J
Middleton-Price, H
Savine, R
Sikorski, J
Watson, M
Weinman, J
Wierzbicki, AS
Wray, R
Date : 2004
DOI : 10.1002/ajmg.a.30102
Uncontrolled Keywords : genetic testing psychological consequences familial hypercholesterolemia health behavior perceived control illness perceptions HEART-DISEASE BEHAVIOR-CHANGE PRIMARY-CARE RISK CONSEQUENCES ILLNESS PREDISPOSITION INTERVENTION COGNITIONS BIOMARKERS
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 09:08
Last Modified : 24 Jan 2020 16:07

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