School of Psychiatry, University of New South Wales, Sydney, Australia.
Depress Anxiety. 2013 Mar;30(3):267-75. doi: 10.1002/da.22000. Epub 2012 Sep 14.
Advances in technology have enabled research to link many genetic markers to specific disease risk. This has led to the commercialization of genetic tests across a wide range of medical disorders. Public interest in one's own future health and an increasing desire for autonomy over one's health care have facilitated a large and growing market for such genetic tests to be sold direct to the consumer (DTC). Amidst a plethora of tests for a broad range of medical conditions, DTC genetic tests currently include a number of tests related to risk for various psychiatric illnesses including major depressive disorder (MDD), bipolar disorder, schizophrenia, and obsessive-compulsive disorder and also for prediction of individual response to psychotropic medication. Although a large number of studies show that there is strong public interest in genetic susceptibility testing for psychiatric disorders, little is known about the impact on individuals of receiving the results of genetic tests. Moreover, the low predictive power and uncertain clinical validity and utility of DTC genetic tests for psychiatric disorders have led to both controversy and difficulties of interpretation of results. This review summarizes the rationale for using genetic risk tests in psychiatry, as an intervention for protective cognitive and behavioral change, and to predict medication response, with a focus on MDD. Since genetic risk information has the potential to influence major life-changing health decisions, there is an imperative to ensure that there is an appropriate evidence base to support the use of such genetic tests.
技术的进步使得研究能够将许多遗传标记与特定的疾病风险联系起来。这导致了广泛的医疗障碍的遗传测试商业化。公众对自己未来健康的兴趣以及对自己医疗保健自主权的日益渴望,为直接向消费者(DTC)销售此类遗传测试创造了一个庞大且不断增长的市场。在针对广泛医疗条件的众多测试中,DTC 遗传测试目前包括许多与各种精神疾病(包括重度抑郁症(MDD)、双相情感障碍、精神分裂症和强迫症)风险相关的测试,以及对精神药物个体反应的预测。尽管大量研究表明,公众对精神障碍遗传易感性测试有着浓厚的兴趣,但对于个体接受遗传测试结果的影响却知之甚少。此外,DTC 遗传测试对精神障碍的低预测能力以及不确定的临床有效性和实用性,既引发了争议,也给结果的解释带来了困难。这篇综述总结了在精神病学中使用遗传风险测试的基本原理,作为预防认知和行为改变的干预措施,以及预测药物反应,重点是 MDD。由于遗传风险信息有可能影响重大改变生活的健康决策,因此必须确保有适当的证据基础来支持此类遗传测试的使用。