Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial
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DOI：
10.1002/ajmg.a.30102
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发表时间：
2004-07-30
影响因子：
2
通讯作者：
Wray, R
中科院分区：
文献类型：
--
作者：
Marteau, T;Senior, V;Wray, R
该试验测试了一个假设，即通过发现基因突变来确认家族性高胆固醇血症（FH）的临床诊断会降低患者对疾病控制和坚持降低风险行为的看法。341个家族，包括341名高胆固醇血症先证者和128名成年亲属，被随机分为两组：（a）常规临床诊断;（B）常规临床诊断加基因检测（先证者的突变搜索和亲属的直接基因检测）。主要的结果指标是控制高胆固醇血症的感觉，坚持降胆固醇药物，饮食，体力活动和吸烟。没有支持主要假设：发现突变对感知控制或坚持降低风险行为没有影响（所有P值> 0.10）。虽然所有组都认为降低胆固醇是降低心脏病发作风险的有效方法，但发现突变的参与者不太相信饮食在降低胆固醇水平方面的功效（6个月时P = 0.02），并显示出更强烈地相信降胆固醇药物功效的趋势（6个月时P = 0.06）。总之，在先前知晓的人群中发现突变以确认FH的临床诊断并不会降低对控制或坚持降低风险行为的看法。研究结果的模式导致了一个新的假设，即基因检测并不影响人们感觉自己对某种疾病的控制程度，但确实影响了他们对如何最有效地实现控制的看法。需要进一步的工作来确定是否会在以前对其风险认识不多的人群中获得类似的结果。(C)2004 Wiley-Liss，Inc.
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.