Effect of direct-to-consumer genomewide profiling to assess disease risk.
Effect of direct-to-consumer genomewide profiling to assess disease risk.
复制标题
DOI：
10.1056/nejmoa1011893
复制
发表时间：
2011-02-10
期刊：
影响因子：
--
通讯作者：
Topol EJ
中科院分区：
文献类型：
--
作者：
Bloss CS;Schork NJ;Topol EJ
使用直接面向消费者的全基因组分析来评估疾病风险是有争议的，而且人们对这项技术对消费者的影响知之甚少。我们用Navigenics Health Compass（一种临床有效性和实用性不确定的市售测试）检查了风险扫描的心理、行为和临床效果。我们从健康和技术公司招募受试者，他们选择以折扣价购买健康指南针。受试者在测试后5.6±2.4个月（平均值±SD）报告焦虑症状、膳食脂肪摄入量和运动行为与基线相比的任何变化，沿着任何与测试相关的痛苦和使用健康筛查测试。在3639例入组受试者的队列中，2037例完成了随访。初步分析显示，基线和随访期间焦虑症状（P = 0.80）、膳食脂肪摄入（P = 0.89）或运动行为（P = 0.61）无显著差异。二次分析显示，在所有评估的条件中，与测试相关的痛苦与平均估计的终生风险呈正相关（β = 0.117，P<0.001）。然而，90.3%完成随访的受试者的评分表明没有测试相关的痛苦。与全基因组分析相关的筛查测试的使用率没有显著增加，其中大多数被认为在任何情况下都不适合筛查无症状者。在接受消费者全基因组测试后完成随访的选定受试者样本中，此类测试并未导致心理健康，饮食或运动行为或使用筛选测试的任何可测量的短期变化。这种类型的基因检测对整个人群的潜在影响尚不清楚。（由美国国立卫生研究院和Scripps Health资助。
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. 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. 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 (β = 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. 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.)