Opportunistic genomic screening has clinical utility: An interventional cohort study.

doi:10.1016/j.gim.2024.101323

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Article

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2025

Mighton Chloe, Kodida Rita, Shickh Salma, Clausen Marc, Reble Emma, Sam Jordan, Grewal Sonya, Hirjikaka Daena, Panchal Seema, Piccinin Carolyn, Aronson Melyssa, Ward Thomas, Armel Susan Randall, Hofstedter Renee, Graham Tracy, Mancuso Talia, Forster Nicole, Capo-Chichi José-Mario, Greenfeld Elena, Noor Abdul, Cohn Iris, Morel Chantal F, Elser Christine, Eisen Andrea, Carroll June C, Glogowksi Emily, Schrader Kasmintan A, Chan Kelvin K W, Thorpe Kevin E, Lerner-Ellis Jordan, Kim Raymond H, Bombard Yvonne

Abstract excerpt

PURPOSE: Practice is shifting toward genome-first approaches, such as opportunistic screening for secondary findings (SFs). Analysis of SFs could be extended beyond medically actionable results to include non-medically actionable monogenic disease risks, carrier status, pharmacogenomic variants, and risk variants for common complex disease. However, evidence on the clinical utility of returning these results is...

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PMID: 39530317
DOI: 10.1016/j.gim.2024.101323
PMCID: PMC12257567

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