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Impact of genetic counselling strategy on diagnostic yield and workload for genome sequencing-based tumour diagnostics.
Genetics in Medicine : Official Journal of the American College of Medical Genetics 2023 November 23
PurposeGenome 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 referrals. MethodsWe validated GS for detection of germline variants and simulated three strategies using paired tumour-normal genome sequencing data of 937 metastatic patients. In strategy-1 genetic counselling prior to tumour testing allowed direct PGV analysis. In strategy-2 and -3, germline testing and referral for post-test genetic counselling is based on tumour variants using Dutch (strategy-2) or ESMO-PMWG (strategy-3) guidelines. ResultsIn strategy-1, PGVs would be detected in 50 patients (number-needed-to counsel; NTC=18.7). In strategy-2, 86 patients would have been referred for genetic counselling and 43 would have PGVs (NTC=2). In strategy-3, 94 patients would have been referred for genetic counselling and 32 would have PGVs (NTC=2.9). Hence, 43 and 62 patients, respectively, were unnecessarily referred based on a somatic variant. ConclusionBoth post-tumour test counselling strategies (2 and 3) had significantly lower NTC, and strategy-2 had the highest PGV yield. Combining pre-tumour test mainstreaming and post-tumour test counselling may maximize the clinically relevant PGV yield and minimize unnecessary referrals.
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