人口分层
背景(考古学)
全基因组关联研究
精密医学
基因分型
多基因风险评分
个性化医疗
风险评估
医学
心理学
生物信息学
生物
遗传学
计算机科学
单核苷酸多态性
基因
基因型
古生物学
计算机安全
作者
Naomi R. Wray,Lin Tian,Jehannine Austin,John J. McGrath,Ian B. Hickie,Graham K. Murray,Peter M. Visscher
出处
期刊:JAMA Psychiatry
[American Medical Association]
日期:2021-01-01
卷期号:78 (1): 101-101
被引量:192
标识
DOI:10.1001/jamapsychiatry.2020.3049
摘要
Polygenic risk scores (PRS) are predictors of the genetic susceptibilities of individuals to diseases. All individuals have DNA risk variants for all common diseases, but genetic susceptibility differences between people reflect the cumulative burden of these. Polygenic risk scores for an individual are calculated as weighted counts of thousands of risk variants that they carry, where the risk variants and their weights have been identified in genome-wide association studies. Here, we review the underlying basic science of PRS, providing a foundation for understanding the potential clinical utility and limitations of PRS.Polygenic risk scores can be calculated for a wide range of diseases from a saliva or blood sample using genotyping technologies that are inexpensive. While genotyping only needs to be done once for each individual in their lifetime, the PRS can be recalculated as identification of risk variants improves. On their own, PRS will never be able to establish or definitively predict future diagnoses of common complex conditions because genetic factors only contribute part of the risk, and PRS will only ever capture part of the genetic contributions. Nonetheless, just as clinical medicine uses a multitude of other predictive measures, PRS either on their own or as part of multivariable predictive algorithms could play a role.Utility of PRS in clinical medicine and ethical issues related to their use should be evaluated in the context of realistic expectations of what PRS can and cannot deliver. For different diseases, PRS could have utility in community settings (stratification to better triage people into established screening programs) or could contribute to clinical decision-making for those presenting with symptoms but where formal diagnosis is unclear. In principle, PRS could contribute to treatment choices, but more data are needed to allow development of PRS in this context.
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