van der Horst M Z, Aalfs C M, Vorstman J A S, Luykx J J, Zinkstok J R
Tijdschr Psychiatr. 2022;64(5):278-285.
In recent years, technological advances have led to the identification of numerous genetic variations that are associated with psychiatric symptoms. Establishing a genetic cause may provide patients and family members with an explanation for the problems and in specific cases allows targeted treatment of psychiatric and somatic (co)morbidity. At present, patients with psychiatric disorders are rarely referred for genetic testing.
To provide an overview of literature and (inter)national guidelines in the field of genetic testing for patients with psychiatric disorder, and to present guidance on indications for genetic testing in clinical practice.
A systematic search was conducted in PubMed and Embase focusing on articles with recommendations on genetic testing in psychiatric disorders. In addition, national and international guidelines on genetic testing in psychiatry were studied. The main findings were summarized in an infographic.
Based on the current literature and (inter)national guidelines, patients with (comorbid) intellectual disability should always be referred to a clinical geneticist. Psychiatrists should consider genetic testing in patients with other psychiatric disorders if there are ‘red flags’ such as a positive family history, congenital abnormalities, developmental delay, dysmorphic features, movement disorders or cognitive decline. Psychiatrists may request genetic testing themselves or refer patients to clinical geneticists.
Psychiatric disorders may be underpinned by a genetic anomaly, particularly in patients presenting with psychiatric as well as somatic symptomatology. Psychiatrists should recognize symptoms and warning signs indicative of an underlying genetic abnormality, and know when to refer their patients for genetic testing.
近年来,技术进步使得众多与精神症状相关的基因变异得以识别。确定基因病因可为患者及其家属解释相关问题,在特定情况下还能为精神疾病和躯体(共)病症提供靶向治疗。目前,患有精神疾病的患者很少被转诊进行基因检测。
概述有关精神疾病患者基因检测领域的文献及(国际)指南,并为临床实践中基因检测的适应症提供指导。
在PubMed和Embase上进行系统检索,重点关注关于精神疾病基因检测建议的文章。此外,还研究了精神科基因检测的国家和国际指南。主要研究结果总结在一张信息图中。
根据当前文献及(国际)指南,患有(共病的)智力残疾的患者应始终转诊给临床遗传学家。如果存在“红旗”,如家族史阳性、先天性异常、发育迟缓、畸形特征、运动障碍或认知衰退等,精神科医生应考虑对患有其他精神疾病的患者进行基因检测。精神科医生可以自行要求进行基因检测,或将患者转诊给临床遗传学家。
精神疾病可能由基因异常引起,特别是在同时出现精神和躯体症状的患者中。精神科医生应识别出表明潜在基因异常的症状和警示信号,并知道何时将患者转诊进行基因检测。