Complex Disease

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? 

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Goals:

  1. Create a standardized reporting guideline for adequate transparency, reproducibility, and interpretability of published polygenic risk score, especially with respect to enabling downstream clinical implementation.
  2. Collaborate with individual institutions and other consortia to promote shared language and guidelines for data sharing and evaluation of polygenic risk scores.
  3. 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.