Polygenic and Integrated Risk Scores Validity
How can we promote standards in polygenic and integrated risk score development and reporting of results to enable assessments of analytic validity, clinical validity and clinical utility?
This working group has suspended activities as of January 2024.
If you have questions on the future of the group, please email clingen@clinicalgenome.org.
Goals:
- Create a standardized reporting guideline for adequate transparency, reproducibility, and interpretability of published polygenic risk score, especially with respect to enabling downstream clinical implementation.
- Collaborate with individual institutions and other consortia to promote shared language and guidelines for data sharing and evaluation of polygenic risk scores.
- Leverage existing principles in epidemiology and risk modeling to advance polygenic risk scores as a clinical tool for risk prediction, while recognizing the unique considerations for assessing utility and actionability.
Chairs
Coordinators
Please contact a coordinator if you have questions.
Documents
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Improving reporting standards for polygenic scores in risk prediction studiesPublications - March 10, 2021
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ClinGen Complex Disease PRS Reporting StandardsSupporting Documents - July 22, 2020
Working Group Membership
Membership spans many fields, including genetics, medical, academia, and industry.