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How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics ( IF 2.8 ) Pub Date : 2023-05-09 , DOI: 10.1002/ajmg.b.32939
Tiahna Moorthy 1 , Huyen Nguyen 2 , Ying Chen 3 , Jehannine Austin 4 , Jordan W Smoller 5, 6, 7 , Laura Hercher 8 , Maya Sabatello 9, 10, 11
Affiliation  

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.

中文翻译:

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?

多基因风险评分(PRS)有望用于识别精神疾病的常见变异相关遗传,但将其融入临床实践取决于其临床实用性和精神病学家对 PRS 的理解。我们的在线调查针对 276 名从事精神遗传学工作的专业人士探讨了这些问题(RR:19%)。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 PRS 熟悉程度呈正相关(r  = 0.21,p  = 0.0006),尽管差异不具有统计显着性(Wald 卡方 = 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%),特别是研究人员(42%),表示至少偶尔与患者和/或家人讨论遗传学在精神疾病中的作用。大多数参与者(62.7%)表示,PRS 对于评估精神分裂症的易感性还不够稳健;最重要的障碍是预测能力低和可用 PRS 缺乏人群多样性(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,表明目前的缺陷可以得到解决。我们的研究结果反映了精神病学专业人士对 PRS 以及 PRS 在精神病学中的应用的看法。
更新日期:2023-05-09
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