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Developing a phenotype risk score for TTR V142I to capture undiagnosed variant transthyretin amyloidosis in health systems

2026-01-06 health systems and quality improvement Title + abstract only
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BackgroundPhenotype Risk Scores (PheRS) leverage electronic health record (EHR) data to identify individuals at risk for Mendelian disorders, but their performance remains untested for diseases with common and/or non-specific features such as variant transthyretin amyloidosis (ATTRv), often presenting with heart failure (HF), atrial fibrillation, polyneuropathy, and other prevalent diagnoses. We optimized a PheRS for the most common form of ATTRv by integrating genomic and clinical data in Mount...

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