Effect of Direct-to-Consumer Genomewide Profiling to Assess Disease Risk.

被引:356
作者
Bloss, Cinnamon S. [1 ,2 ]
Schork, Nicholas J. [1 ,2 ,3 ]
Topol, Eric J. [1 ,2 ,3 ,4 ]
机构
[1] Scripps Translat Sci Inst, La Jolla, CA 92037 USA
[2] Scripps Hlth, La Jolla, CA USA
[3] Scripps Res Inst, Dept Mol & Expt Med, La Jolla, CA 92037 USA
[4] Scripps Clin, La Jolla, CA 92037 USA
基金
美国国家卫生研究院;
关键词
PROPHYLACTIC SURGERY; IMPACT;
D O I
10.1056/NEJMoa1011893
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: The use of direct-to-consumer genomewide profiling to assess disease risk is controversial, and little is known about the effect of this technology on consumers. We examined the psychological, behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility. Methods: We recruited subjects from health and technology companies who elected to purchase the Health Compass at a discounted rate. Subjects reported any changes in symptoms of anxiety, intake of dietary fat, and exercise behavior at a mean (+/-SD) of 5.6+/-2.4 months after testing, as compared with baseline, along with any test-related distress and the use of health-screening tests. Results: From a cohort of 3639 enrolled subjects, 2037 completed follow-up. Primary analyses showed no significant differences between baseline and follow-up in anxiety symptoms (P=0.80), dietary fat intake (P=0.89), or exercise behavior (P=0.61). Secondary analyses revealed that test-related distress was positively correlated with the average estimated lifetime risk among all the assessed conditions ((beta)=0.117, P<0.001). However, 90.3% of subjects who completed follow-up had scores indicating no test-related distress. There was no significant increase in the rate of use of screening tests associated with genomewide profiling, most of which are not considered appropriate for screening asymptomatic persons in any case. Conclusions: In a selected sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests. Potential effects of this type of genetic testing on the population at large are not known. (Funded by the National Institutes of Health and Scripps Health.) N Engl J Med 2011;364:524-34.
引用
收藏
页码:524 / 534
页数:11
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