Zinkstok J R, van der Horst M Z, Wouters R P H, Aalfs C M, Luykx J J
Tijdschr Psychiatr. 2022;64(5):266-272.
Insights from psychiatric genetics research and large international psychiatric genetics consortia are promising but still remain outside the realm of clinical practice.
AIM: To provide an overview of developments in the field of psychiatric genetics; and to offer guidance for health professionals how to assess and manage clinical implications of these developments.
METHOD: In this review, we address: recent developments in psychiatric genetics, with a focus on polygenic risk scores (PRS); ethical dilemmas associated with clinical application of PRS; and basic principles of genetic counseling for psychiatric disorders.
RESULTS: PRS are not yet ready for implementation in clinical practice because of limited predictive value and poor generalizability. In addition, it is still unclear how genetic risk and PRS can be communicated clearly to patients and families.
CONCLUSION: Advances in psychiatric genetics and increased availability of genetic risk scores may lead to questions from patients and families coping with psychiatric illness. These questions may be best addressed using psychiatric genetic counseling techniques. We recommend that psychiatrists have some basic knowledge of psychiatric genetics and know how to refer their patients to a clinical geneticist. Implementing a psychiatric genetics theme in training and education may be helpful.
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精神病遗传学研究以及大型国际精神病遗传学联盟所取得的见解很有前景，但仍未进入临床实践领域。
概述精神病遗传学领域的发展情况；并为卫生专业人员提供指导，说明如何评估和处理这些发展的临床意义。
在本综述中，我们探讨：精神病遗传学的最新发展，重点是多基因风险评分（PRS）；与PRS临床应用相关的伦理困境；以及精神疾病遗传咨询的基本原则。
由于预测价值有限且普遍性较差，PRS尚未准备好在临床实践中实施。此外，目前仍不清楚如何向患者及其家属清楚地传达遗传风险和PRS。
精神病遗传学的进展以及遗传风险评分可用性的提高，可能会引发患有精神疾病的患者及其家属的疑问。使用精神病遗传咨询技术可能是解决这些问题的最佳方式。我们建议精神科医生具备一些精神病遗传学的基本知识，并知道如何将患者转介给临床遗传学家。在培训和教育中纳入精神病遗传学主题可能会有所帮助。
