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Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2026

Ekstein Tali, Aguilar Sienna, Russell Emily M, Ellsworth Rachel E, Christensen Kurt D, Hulick Peter, Green Robert, Nussbaum Robert, Aradhya Swaroop, Garcia John

Abstract excerpt

PURPOSE: Genomic screening (GS) can identify the risk of medically actionable, monogenic conditions in individuals who would otherwise not be considered for genetic testing. The yield of pathogenic variants and associated health care utilization among at-risk individuals have not been well-studied in real-world settings. METHODS: Physicians ordered GS panels for up to 167 genes. Calculations included the positive...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 42153369
DOI: 10.1016/j.gim.2026.102605

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