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Predictive and diagnostic genetic testing in psychiatry.

机译:精神病学中的预测和诊断基因测试。

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The recent advent of commercially available genetic tests for the diagnosis of several mental illnesses has led to intense controversy amongst the psychiatric research community. In this article the authors review these developments, and contrast these with the growing evidence from genomewide association studies that highly heritable psychiatric conditions such as schizophrenia are due to the contributions and interaction of multiple allelic variants, each of small effect size. There is also evidence for the contribution of some highly penetrant rare de novo copy number variants, though the lack of disease specificity for these is of concern. This article outlines the prerequisites for predictive and diagnostic genetic tests, such as clinical validity and utility, and reviews the opportunity that genetic tests for mental illnesses present. As the scientific discourse on genetic tests for complex disorders is not limited to psychiatry, the authors outline current thoughts on the significance of genome-wide association studies across health, and the phenomenon of direct-to-consumer tests in medicine. The attitudes and understanding of patients, families, and clinicians about the future (currently hypothetical) scenario of psychiatric genetic tests are discussed, as is the potential for such testing to increase, rather than diminish stigma. Finally, recommendations on the future development and availability of genetic tests in psychiatry are provided.
机译:最近,用于诊断几种精神疾病的商业化基因检测技术的问世引起了精神病学研究界的激烈争论。在本文中,作者回顾了这些进展,并将其与来自全基因组关联研究的越来越多的证据进行了对比,该研究表明,高度遗传的精神疾病(例如精神分裂症)是由于多个等位基因变体的贡献和相互作用所致,每个变体的影响大小均很小。也有证据表明某些高度渗透性的罕见的从头复制拷贝数变体的贡献,尽管对这些缺乏疾病特异性缺乏关注。本文概述了预测性和诊断性基因测试的先决条件,例如临床有效性和实用性,并概述了针对精神疾病的基因测试所带来的机会。由于有关复杂疾病的基因检测的科学论述不仅限于精神病学,因此作者概述了有关整个基因组关联研究对整个健康的重要性以及医学中直接面向消费者的检验现象的最新想法。讨论了患者,家庭和临床医生对精神病基因检测的未来(当前假设)方案的态度和理解,以及这种检测增加而不是减少污名的可能性。最后,提供了有关精神病学基因测试的未来发展和可用性的建议。

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