August 15, 2025Open Access

Development and validation of polygenic scores for within-family prediction of disease risks

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Analysis shows improved performance of polygenic scores within families, indicating their utility in embryo screening.

Predictive performance of polygenic scores achieved state-of-the-art results, with R 2 values reaching 0.21 for type 2 diabetes.
Systematic validation of 17 disease polygenic scores found no decrease in performance within families for 16 scores.
Calibration across different ancestries revealed improved predictive ability, especially for African and East Asian populations.
Findings suggest polygenic scores may significantly reduce disease risk in embryo selection for families affected by type 2 diabetes.

Moore et al. (2025) studied this question.

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