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精神疾病多基因风险评分:儿童和青少年精神科医生的经验、对其应用的希望和担忧。

Psychiatric polygenic risk scores: Experience, hope for utility, and concerns among child and adolescent psychiatrists.

机构信息

Center for Bioethics, Harvard Medical School, Boston, MA 02115, United States.

Center for Medical Ethics & Health Policy at Baylor College of Medicine, United States.

出版信息

Psychiatry Res. 2024 Sep;339:116080. doi: 10.1016/j.psychres.2024.116080. Epub 2024 Jul 7.

Abstract

Recent advances in psychiatric genetics have enabled the use of polygenic risk scores (PRS) to estimate genetic risk for psychiatric disorders. However, the potential use of PRS in child and adolescent psychiatry has raised concerns. This study provides an in-depth examination of attitudes among child and adolescent psychiatrists (CAP) regarding the use of PRS in psychiatry. We conducted semi-structured interviews with U.S.-based CAP (n = 29) who possess expertise in genetics. The majority of CAP indicated that PRS have limited clinical utility in their current form and are not ready for clinical implementation. Most clinicians stated that nothing would motivate them to generate PRS at present; however, some exceptions were noted (e.g., parent/family request). Clinicians spoke to challenges related to ordering, interpreting, and explaining PRS to patients and families. CAP raised concerns regarding the potential for this information to be misinterpreted or misused by patients, families, clinicians, and outside entities such as insurance companies. Finally, some CAP noted that PRS may lead to increased stigmatization of psychiatric disorders, and at the extreme, could be used to support eugenics. As PRS testing increases, it will be critical to examine CAP and other stakeholders' views to ensure responsible implementation of this technology.

摘要

精神遗传学的最新进展使得使用多基因风险评分(PRS)来估计精神障碍的遗传风险成为可能。然而,PRS 在儿童和青少年精神病学中的潜在应用引起了关注。本研究深入探讨了儿童和青少年精神科医生(CAP)对 PRS 在精神病学中应用的态度。我们对具有遗传学专业知识的美国 CAP(n=29)进行了半结构化访谈。大多数 CAP 表示,PRS 在其当前形式下临床应用有限,尚未准备好临床实施。大多数临床医生表示,目前没有任何事情会促使他们生成 PRS;然而,也有一些例外(例如,父母/家庭要求)。临床医生谈到了与向患者和家属订购、解释和解释 PRS 相关的挑战。CAP 对患者、家属、临床医生和保险公司等外部实体可能错误解释或滥用这些信息的潜在风险表示担忧。最后,一些 CAP 指出,PRS 可能导致精神障碍的污名化加剧,在极端情况下,可能被用于支持优生学。随着 PRS 测试的增加,检查 CAP 和其他利益相关者的观点以确保负责任地实施这项技术将至关重要。

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