精神遗传学专家如何看待精神分裂症多基因风险评分的临床效用?

IF 1.6 3区 医学 Q3 GENETICS & HEREDITY
Tiahna Moorthy, Huyen Nguyen, Ying Chen, Jehannine Austin, Jordan W. Smoller, Laura Hercher, Maya Sabatello
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引用次数: 0

摘要

多基因风险评分(PRS)有望确定精神疾病的常见变异相关遗传,但其与临床实践的结合取决于其临床实用性和精神病医生对PRS的理解。我们的在线调查对276名从事精神遗传学工作的专业人员(RR:19%)探讨了这些问题。总体而言,参与者展示了如何解释PRS结果的知识。他们在基于知识的问题上的表现与参与者自我报告的对PRS的熟悉程度呈正相关(r = 0.21,p = 0.0006),尽管差异在统计学上并不显著(Wald-Chi平方 = 3.29,df = 1,p = 0.07)。然而,只有48.9%的参与者正确回答了所有知识问题。许多参与者(56.5%),尤其是研究人员(42%)表示,至少偶尔会与患者和/或家庭成员谈论遗传学在精神疾病中的作用。大多数参与者(62.7%)表示,PRS在评估精神分裂症易感性方面还不够有力;最显著的障碍是预测能力低和可用PRS缺乏群体多样性(分别由53.6%和29.3%的参与者选择)。尽管如此,89.8%的参与者对未来10年PRS的使用持乐观态度 多年来,这表明人们相信目前的缺点是可以解决的。我们的研究结果提供了精神病专业人员对PRS的看法以及PRS在精神病学中的应用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?

Polygenic risk scores (PRS) are promising for identifying common variant-related inheritance for psychiatric conditions but their integration into clinical practice depends on their clinical utility and psychiatrists' understanding of PRS. Our online survey explored these issues with 276 professionals working in psychiatric genetics (RR: 19%). Overall, participants demonstrated knowledge of how to interpret PRS results. Their performance on knowledge-based questions was positively correlated with participants' self-reported familiarity with PRS (r = 0.21, p = 0.0006) although differences were not statistically significant (Wald Chi-square = 3.29, df = 1, p = 0.07). However, only 48.9% of all participants answered all knowledge questions correctly. Many participants (56.5%), especially researchers (42%), indicated having at least occasional conversations about the role of genetics in psychiatric conditions with patients and/or family members. Most participants (62.7%) indicated that PRS are not yet sufficiently robust for assessment of susceptibility to schizophrenia; most significant obstacles were low predictive power and lack of population diversity in available PRS (selected, respectively, by 53.6% and 29.3% of participants). Nevertheless, 89.8% of participants were optimistic about the use of PRS in the next 10 years, suggesting a belief that current shortcomings could be addressed. Our findings inform about the perceptions of psychiatric professionals regarding PRS and the application of PRS in psychiatry.

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来源期刊
CiteScore
5.90
自引率
7.10%
发文量
40
审稿时长
4-8 weeks
期刊介绍: Neuropsychiatric Genetics, Part B of the American Journal of Medical Genetics (AJMG) , provides a forum for experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. It is a resource for novel genetics studies of the heritable nature of psychiatric and other nervous system disorders, characterized at the molecular, cellular or behavior levels. Neuropsychiatric Genetics publishes eight times per year.
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