{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mighton C"],"funding":["NCI NIH HHS","Canadian Institutes of Health Research","Canadian Cancer Society Research Institute"],"pagination":["101323"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12257567"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(2)"],"pubmed_abstract":["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 lacking. We assessed the outcomes of opportunistic screening for a broad spectrum of SFs by evaluating the yield, impact on clinical management, and consistency between SFs and participants' clinical features and family history.Methods
Adult cancer patients had exome sequencing with the option to learn multiple categories of SFs. Outcomes data were collected through c"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Opportunistic genomic screening has clinical utility: An interventional cohort study."],"pmcid":["PMC12257567"],"funding_grant_id":["P30 CA008748"],"pubmed_authors":["Eisen A","Hamilton JG","Carroll JC","Offit K","Sam J","Grewal S","Evans M","Mighton C","Cohn I","Kodida R","Hofstedter R","Bond K","Piccinin C","Dhalla I","Kim RH","Graham T","Panchal S","Isaranuwatchai W","Scheer A","Incidental Genomics Study Team","Baxter NN","Elser C","Shickh S","Glogowski E","Greenfeld E","Forster N","Armel SR","Noor A","Scherer SW","Ward T","Chan KKW","Capo-Chichi JM","Mancuso T","Morel CF","Bombard Y","Sullivan T","Lerner-Ellis J","Mujoomdar M","Clausen M","Caulfield T","Earle CC","Schrader KA","Kastner M","Clifford TJ","Glogowksi E","Thorpe KE","Hirjikaka D","Robson ME","Aronson M","Reble E"],"additional_accession":[]},"is_claimable":false,"name":"Opportunistic genomic screening has clinical utility: An interventional cohort study.","description":"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 lacking. We assessed the outcomes of opportunistic screening for a broad spectrum of SFs by evaluating the yield, impact on clinical management, and consistency between SFs and participants' clinical features and family history.Methods
Adult cancer patients had exome sequencing with the option to learn multiple categories of SFs. Outcomes data were collected through c","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-09T06:48:59.506Z","creation":"2026-06-09T03:12:04.955Z"},"accession":"S-EPMC12257567","cross_references":{"pubmed":["39530317"],"doi":["10.1016/j.gim.2024.101323"]}}