Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.

doi:10.1016/j.gim.2023.101032

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Impact of genetic counseling strategy on diagnostic yield and workload for genome-sequencing-based tumor diagnostics.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2024

Koster Roelof, Schipper Luuk J, Giesbertz Noor A A, van Beek Daphne, Mendeville Matías, Samsom Kris G, Rosenberg Efraim H, Hogervorst Frans B L, Roepman Paul, Boelens Mirjam C, Bosch Linda J W, van den Berg Jose G, Meijer Gerrit A, Voest Emile E, Cuppen Edwin, Ruijs Marielle W G, van Wezel Tom, van der Kolk Lizet, Monkhorst Kim

Abstract excerpt

PURPOSE: Genome sequencing (GS) enables comprehensive molecular analysis of tumors and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pretest genetic counseling, which is cost-ineffective. Referral for genetic counseling based on tumor variants alone could miss relevant PGVs and/or result in unnecessary referrals....

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PMID: 38006283
DOI: 10.1016/j.gim.2023.101032

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