Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas, USA.
School of Medicine, Emory University, Atlanta, Georgia, USA.
Am J Med Genet B Neuropsychiatr Genet. 2022 Oct;189(7-8):293-302. doi: 10.1002/ajmg.b.32912. Epub 2022 Jul 6.
Psychiatric polygenic risk scores (PRS) have potential utility in psychiatric care and prevention, but there are concerns about their implementation. We surveyed 960 US-based practicing child and adolescent psychiatrists' (CAP) about their experiences, perspectives, and potential uses of psychiatric PRS. While 23% of CAP reported that they had never heard of PRS, 10 % of respondents have had a patient/family bring PRS to them and 4% have generated PRS for patients. Though 25% stated they would request PRS if a patient/caregiver asked, 35% indicated that nothing would prompt them to request PRS. Most respondents (54%) believed psychiatric PRS are currently at least slightly useful and 87% believed they will be so in 5 years. More than 70% indicated they would take action in response to a child with a top fifth percentile psychiatric PRS but no diagnosis: 48% would increase monitoring of symptoms, 42% would evaluate for current symptoms, and 4% would prescribe medications. Yet, most respondents were concerned that high-PRS results could lead to overtreatment and negatively impact patients' emotional well-being. Findings indicate emerging use of psychiatric PRS within child and adolescent psychiatry in the US. It is critical to examine the ethical and clinical challenges that PRS may generate and begin efforts to promote their informed and responsible use.
精神科多基因风险评分（PRS）在精神科护理和预防方面具有潜在的应用价值，但人们对其实施存在一些担忧。我们调查了 960 名美国执业儿童和青少年精神科医生（CAP），了解他们在精神科 PRS 方面的经验、观点和潜在用途。虽然 23%的 CAP 报告称他们从未听说过 PRS，但有 10%的受访者曾有患者/家属向他们提及 PRS，4%的受访者曾为患者生成 PRS。尽管 25%的受访者表示如果患者/照顾者提出要求，他们会要求 PRS，但 35%的受访者表示没有任何因素会促使他们要求 PRS。大多数受访者（54%）认为精神科 PRS 目前至少有一定的用处，87%的受访者认为 5 年后会如此。超过 70%的受访者表示，他们会对 PRS 排名在前五分之一但没有诊断的儿童采取行动：48%的人会增加对症状的监测，42%的人会评估当前症状，4%的人会开处方。然而，大多数受访者担心高 PRS 结果可能导致过度治疗，并对患者的情绪健康产生负面影响。研究结果表明，精神科 PRS 在美国儿童和青少年精神科领域的应用正在兴起。重要的是要检查 PRS 可能产生的伦理和临床挑战，并开始努力促进其知情和负责任的使用。
