Peer-Reviewed Publication
Genet Med2026;28(7):102605.May 19, 2026Journal Article
Genetic findings and health care utilization among individuals undergoing population genomic screening for actionable hereditary disorders.
Tali Ekstein1, Sienna Aguilar2, Emily M Russell1, Rachel E Ellsworth1, Kurt D Christensen3, Peter Hulick4, Robert Green5, Robert Nussbaum6, Swaroop Aradhya7, John Garcia8
1Labcorp (formerly Invitae Corp), San Francisco, CA.
2Invitae Corporation (now part of Labcorp), San Francisco, CA; Convergent Genomics, San Francisco, CA.
3Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA.
4Mark R. Neaman Center for Personalized Medicine, Endeavor Health Evanston, IL.
5Mass General Brigham, Broad Institute, Ariadne Labs and Harvard Medical School, Boston, MA.
6Invitae Corporation (now part of Labcorp), San Francisco, CA; Department of Pediatrics, University of California San Francisco, San Francisco, CA.
7Invitae Corporation (now part of Labcorp), San Francisco, CA; Illumina, San Diego, CA.
8Labcorp (formerly Invitae Corp), San Francisco, CA. Electronic address: john.garcia@labcorp.com.
Abstract
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 incl…
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