ArticlemedRxiv : the preprint server for health sciences2026
Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system.
Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
The Genome Informed Risk Assessment (GIRA) from eMERGE is an ongoing pragmatic prospective study designed to implement and evaluate genomic precision medicine across diverse clinical settings. Here, we examine the utility of the high-risk criteria from GIRA in assessing health risk through a retrospective evaluation of 9 adult conditions in a health system independent of eMERGE using the Penn Medicine Biobank (PMBB, n=48,279). We find a large proportion of patients - 30.4% (n=14,676) - labeled as high-risk based on the genomic components (monogenic and polygenic) of GIRA. Stratifying by ancestry revealed significant differences in high-risk classification, with higher rates in African/African American (56.6% vs. 50.1%, p=7.43x10
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