Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens.

doi:10.1016/j.gim.2025.101599

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Article

Opportunistic screening for broad range of medically relevant secondary findings: Laboratory benefits and burdens.

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

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

Abstract excerpt

PURPOSE: Exome and genome sequencing enable opportunistic screening for secondary findings (SFs). We report on exome analysis for a broad range of medically relevant SFs in the setting of the Incidental Genomics randomized clinical trial (NCT03597165). METHODS: Participants had exome sequencing and were randomized to receive only primary cancer findings (control) or cancer findings and a choice of SFs...

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PMID: 41104539
DOI: 10.1016/j.gim.2025.101599

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