Polygenic Risk Score Reporting Standards

Other names: PRS-RS

The Polygenic Risk Score Reporting Standards (PRS-RS) provides the minimal information expected of authors to promote the internal validity, transparency, and reproducibility of PRS by requiring authors to detail the study population, statistical methods, and clinical utility of a published score. PRSs, which often aggregate results from genome-wide association studies, can bridge the gap between initial discovery efforts and clinical applications for the estimation of disease risk using genetics. However, there is notable heterogeneity in the application and reporting of these risk scores, which hinders the translation of PRSs into clinical care. These guidelines update the Genetic Risk Prediction Studies (GRIPS) Statement to reflect the present state of the field. Drawing on the input of experts in epidemiology, statistics, disease-specific applications, implementation and policy, this reporting framework defines the minimal information that is needed to interpret and evaluate PRSs, especially with respect to downstream clinical applications. Items span detailed descriptions of study populations, statistical methods for the development and validation of PRSs and considerations for the potential limitations of these scores. In addition, data deposition is encouraged via the PGS Catalog to facilitate reproducibility and comparative benchmarking. By providing these criteria in a structured format that builds on existing standards and ontologies, the aim is to facilitate translation into clinical care and progress towards defining best practice.

Webpage:
https://clinicalgenome.org/docs/clingen-complex-disease-prs-reporting-standards/

Licence:
Name: Creative Commons Attribution 4.0 International (CC BY 4.0)
URL: https://creativecommons.org/licenses/by/4.0/

Publications:

Tags:

biomarker

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