A Cost-Effectiveness Review of Genetic Testing of Paragangliomas

Background/Objectives: In recent years, genetic testing of patients with paragangliomas has become more widespread. However, most institutions do not obtain genetic testing of paragangliomas, which are rare, predominantly benign tumors. In patients with paragangliomas, germline mutations in the SDHB, SDHC, and SDHD genes are amongst the most common. It has been demonstrated that the risk for developing malignancies is higher in patients with sporadic tumors and SDHB mutations. As such, a family history is an indicator of a predisposition to paragangliomas. The primary goal of this study is to assess the benefits and costs associated with the genetic testing of mutations linked to a predisposition to paraganglioma development. At our institution, we attempt to obtain genetic testing in all paraganglioma patients, and we reviewed the contribution of genetic testing in cost-effectiveness for paragangliomas.