Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.
Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies.
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DOI：
10.1007/s40142-013-0018-2
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发表时间：
2013-09
影响因子：
2.1
通讯作者：
Ostergren J
中科院分区：
文献类型：
--
作者：
Roberts JS;Ostergren J
直接面向消费者的基因检测（DTC-GT）在其短暂的历史中引发了许多争议并经历了巨大的变化。关于DTC-GT的适当健康政策的辩论将受益于对其益处，危害和局限性的实证研究。我们回顾了最近的文献（2011年至今），并总结了（1）DTC-GT网站的内容分析，（2）消费者观点和体验的研究，以及（3）相关医疗保健提供者的调查结果。研究结果表明，DTC-GT支持者所设想的健康益处（例如，积极健康行为的显著改善），也不是其批评者所表达的最糟糕的恐惧（例如，灾难性的心理痛苦和对测试结果的误解，对医疗保健系统造成的不适当负担）迄今已成为现实。然而，这一领域的研究还处于早期阶段，存在许多关键的局限性。我们注意到未来的研究需要阐明DTC-GT的影响，从而指导实践和政策，这种快速发展的个人基因组学的方法。
Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics.