Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Nat Med. 2021 Sep;27(9):1576-1581. doi: 10.1038/s41591-021-01475-7. Epub 2021 Sep 6.
Polygenic risk scores (PRS) summarize genetic liability to a disease at the individual level, and the aim is to use them as biomarkers of disease and poor outcomes in real-world clinical practice. To date, few studies have assessed the prognostic value of PRS relative to standards of care. Schizophrenia (SCZ), the archetypal psychotic illness, is an ideal test case for this because the predictive power of the SCZ PRS exceeds that of most other common diseases. Here, we analyzed clinical and genetic data from two multi-ethnic cohorts totaling 8,541 adults with SCZ and related psychotic disorders, to assess whether the SCZ PRS improves the prediction of poor outcomes relative to clinical features captured in a standard psychiatric interview. For all outcomes investigated, the SCZ PRS did not improve the performance of predictive models, an observation that was generally robust to divergent case ascertainment strategies and the ancestral background of the study participants.
多基因风险评分 (PRS) 个体水平上总结疾病的遗传易感性,其目的是将其用作疾病和现实临床实践中不良结局的生物标志物。迄今为止,很少有研究评估 PRS 相对于标准护理的预后价值。精神分裂症 (SCZ),典型的精神病,是一个理想的测试案例,因为 SCZ PRS 的预测能力超过了大多数其他常见疾病。在这里,我们分析了来自两个多民族队列的临床和遗传数据,这些队列共包含 8541 名患有 SCZ 和相关精神病的成年人,以评估 SCZ PRS 是否相对于标准精神病访谈中捕获的临床特征改善了不良结局的预测。对于所有调查的结果,SCZ PRS 并没有改善预测模型的性能,这一观察结果通常对不同的病例确定策略和研究参与者的祖先背景具有稳健性。