Cost-effectiveness of Genetic Testing of Endocrine Tumor Patients Using a Comprehensive Hereditary Cancer Gene Panel

Area of Science:

• Oncology
• Genetics
• Endocrinology

Background:

• Hereditary endocrine tumors present with complex genetic backgrounds and varied clinical features.
• Lack of comprehensive genetic testing guidelines for endocrine tumors contrasts with other hereditary cancer syndromes.
• The diagnostic utility of multigene panel testing for endocrine tumors remains unevaluated.

Purpose of the Study:

• To assess the diagnostic utility and cost-efficiency of a multigene panel for hereditary endocrine tumors.
• To evaluate the performance of a comprehensive gene panel in a clinical genetic laboratory setting.

Main Methods:

• Prospective evaluation of a multigene panel (113 genes) for solid tumor genetic susceptibility.
• Analysis of 1279 patients, including 96 with suspected hereditary endocrine tumors, from October 2021 to December 2022.
• Assessment of analytical performance, diagnostic yield, incidental findings, and cost-benefit.

Main Results:

• The hereditary cancer panel demonstrated suitable analytical performance for diagnostic use.
• Clinical diagnoses were confirmed in 24% of endocrine tumor cases (23/96).
• Incidental findings and variants in genes with uncertain clinical significance were identified in 5% and 7% of cases, respectively.
• Comprehensive panels offered shorter turnaround times and additional genetic information at the same cost and workload.

Conclusions:

• Multigene panel testing is a cost-effective method for identifying genetic alterations in hereditary endocrine tumor syndromes.
• Faster turnaround times and comprehensive genetic data improve patient management.
• Incidental findings may offer potential therapeutic targets for tumors with limited treatment options.