Article

Impact of genetic counselling strategy on diagnostic yield and workload for genome sequencing-based tumour diagnostics

2023-07-12

Abstract excerpt

<h4>Purpose</h4> Genome sequencing (GS) enables comprehensive molecular analysis of tumours and identification of hereditary cancer predisposition. According to guidelines, directly determining pathogenic germline variants (PGVs) requires pre-test genetic counselling, which is cost-ineffective. Referral for genetic counselling based on tumour variants alone could miss relevant PGVs and/or result in unnecessary ref...

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Literature Corpus work: 2b2f60c4-0257-5f73-a873-3379a488e8ec
DOI: 10.1101/2023.07.11.23291187

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