Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel
Authors' conclusion
Using comprehensive multigene panel results in faster turnaround time and cost-efficiently identifies genetic alterations in hereditary endocrine tumor syndromes. Incidentally identified variants in patients with poor prognoses may serve as a potential therapeutic target in tumors where therapeutic possibilities are limited.
Study context
- Population
- Patients suspected to have hereditary tumor syndromes, evaluated October 2021–December 2022 at a national reference center96 endocrine tumors
- Participants
- 1,279 patients
- Outcome
- Diagnostic utility and cost-efficiency of a multigene panel covering 113 genes
Methodological detailsnational reference center, multigene panel (113 genes)
- National reference center
- Multigene panel (113 genes)
Performance
As reported in the abstract
Diagnostic yield in endocrine tumor patients
Clinical diagnosis confirmed
24%
23/96
Incidental findings in genes not associated with phenotype
5%
5/96
Further pathogenic/likely pathogenic variants in genes with potential susceptibility roles but no clear clinical consequence
7%
Further findings
Cost-benefit
- More comprehensive panel yielded shorter turnaround time and additional genetic results with the same cost and workload
Original publication
Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel. J Clin Endocrinol Metab. Published 3 May 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →