Soda Takahiro, Merner Amanda R, Small Brent J, Torgerson Laura N, Muñoz Katrina, Austin Jehannine, Storch Eric A, Pereira Stacey, Lázaro-Muñoz Gabriel
medRxiv. 2023 Jan 28:2023.01.24.23284953. doi: 10.1101/2023.01.24.23284953.
To report current practices and attitudes of child and adolescent psychiatrists (CAP) regarding diagnostic genetic and pharmacogenetic (PGx) testing.
Survey of 958 US-based practicing CAP.
54.9% of respondents indicated that they had ordered/referred for a genetic test in the past 12 months. 87% of respondents agreed that it is their role to discuss genetic information regarding psychiatric conditions with their patients; however, 45% rated their knowledge of genetic testing practice guidelines as poor/very poor. The most ordered test was PGx (32.2%), followed by chromosomal microarray (23.0%). 73.4% reported that PGx is at least slightly useful in child and adolescent psychiatry. Most (62.8%) were asked by a patient/family to order PGx in the past 12 months and 41.7% reported they would order PGx in response to a family request. Those who ordered a PGx test were more likely to have been asked by a patient/family and to work in private practice. 13.8% of respondents agreed/strongly agreed that a PGx test can predict the effectiveness of specific antidepressants. Some respondents also indicated they would make clinical changes based on PGx information even if a medication was currently effective and there were no side effects.
Genetic testing has become routine clinical care in child and adolescent psychiatry. Despite this, many providers rate their associated knowledge as poor/very poor. Patient requests were associated with ordering practices and providers misinterpretation of PGx may be leading to unnecessary changes in clinical management. There is need for further education and support for clinicians.
报告儿童及青少年精神科医生（CAP）目前在诊断性基因检测和药物基因组学（PGx）检测方面的实践情况和态度。
对958名美国执业CAP进行调查。
54.9%的受访者表示，他们在过去12个月内曾开具过基因检测医嘱或进行过基因检测转诊。87%的受访者同意，与患者讨论有关精神疾病的基因信息是他们的职责；然而，45%的受访者将他们对基因检测实践指南的了解评为差/非常差。最常开具的检测是PGx（32.2%），其次是染色体微阵列检测（23.0%）。73.4%的受访者表示，PGx在儿童及青少年精神病学中至少有一定用处。在过去12个月里，大多数（62.8%）受访者是应患者/家属要求开具PGx检测医嘱，41.7%的受访者表示他们会应家属要求开具PGx检测医嘱。那些开具过PGx检测医嘱的人更有可能是应患者/家属要求，并且在私人诊所工作。13.8%的受访者同意/强烈同意PGx检测可以预测特定抗抑郁药的疗效。一些受访者还表示，即使目前使用的药物有效且没有副作用，他们也会根据PGx信息进行临床调整。
基因检测已成为儿童及青少年精神病学的常规临床护理手段。尽管如此，许多医疗服务提供者认为他们相关的知识水平差/非常差。患者的要求与检测医嘱行为有关，而医疗服务提供者对PGx检测的误解可能导致临床管理上的不必要改变。临床医生需要进一步的教育和支持。
