Are Real-World Testing Patterns for RET Gene Mutation with Medullary Thyroid Cancer Consistent with National Guidelines?

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Medullary thyroid cancer (MTC) is a rare cancer, generally diagnosed at early stages of the disease when prognosis is favorable. Mutations in the RET gene are involved in the development of the cancer and are common in patients with MTC. 

Guidelines that recommend genetic counseling and testing for these mutations exist, but they are not wholly consistent. Identifying the RET gene can impact patient treatment as well as help patients and their families understand if there is a hereditary component to the mutation. 

Limited Data

The recent US FDA approval of RET inhibitors adds weight to the importance of genetic testing as an important part of treatment. Data on RET testing patterns in the US in those with MTC is limited though. Researchers, including experts from RTI Health Solutions, have performed a retrospective study of patient medical records to evaluate the characteristics and patterns of biomarker testing among patients in a real-world setting.


The findings demonstrated an underutilization of RET mutation testing in the US. Additional studies that help understand why patients are not receiving guideline recommended biomarker testing could help develop solutions to potentially increase the recommended genetic testing in this population. 


Bhandari NR, Hess LM, Parikh RC, Sireci AN, Krein PM, Kaye JA. Biomarker testing in patients diagnosed with advanced/metastatic medullary thyroid cancer in the United States. Per Med. 2023 Feb 7. doi: 10.2217/pme-2022-0050

Parikh R, Hess LM, Esterberg E, Bhandari NR, Kaye JA. Diagnostic characteristics, treatment patterns, and clinical outcomes for US patients with advanced/metastatic medullary thyroid cancer: a retrospective medical record review. J Thyroid Res. 2022;15(2). doi: 10.1186/s13044-021-00119-9