Genomic Screening May Help Detect Medullary Thyroid Cancer, Study Finds

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Population-based genomic screening may facilitate early detection of medullary thyroid cancer in patients with variants in the RET gene, according to a new study published by Pichardo et al in JAMA Otolaryngology–Head & Neck Surgery.


Medullary thyroid cancer accounts for 2% to 5% of all thyroid cancers and is responsible for 13% of all deaths related to thyroid cancer. About 25% of all cases of medullary thyroid cancer are hereditary and can be attributed to variants in the RET gene.

Study Methods and Findings

In the new study, researchers evaluated 75 patients who were found to have RET gene variants as part of the MyCode Community Health Initiative. None of the patients had any symptoms of medullary thyroid cancer prior to receiving their genetic results; however, after testing positive for the RET gene variants, 20 patients chose to have a thyroidectomy and 13 had lymph nodes removed. Of the 20 patients who chose to have surgery, cancer was detected in 60% (n = 12) of them. Two additional patients had C-cell hyperplasia, a known precursor to medullary thyroid cancer.


While genomic screenings can provide opportunities for the early detection and treatment of medullary thyroid cancer, the researchers emphasized that more work is needed to ensure patients have the education and resources they need to understand the condition and make informed decisions about their care by knowing their genetic risk factors. 

“It is possible that some patients in the study chose not to have surgery due to an absence of symptoms at the time of detection, or were hesitant to act upon a potential risk,” explained lead study author Nicholas Purdy, DO, FACS, Director of Head and Neck Surgery in the Department of Otolaryngology at Geisinger Medical Center, stressing that “It is important to further identify barriers to care and make sure that all patients receive the information they need to make informed decisions about their care.”

“Genomic screening through MyCode allows us to find previously unrecognized risks for cancer and other serious diseases and intervene early,” underscored study coauthor Adam Buchanan, MS, MPH, Associate Professor and Chair of the Department of Genomic Health at the Geisinger Commonwealth School of Medicine. “But it also compels us to support patients and clinicians throughout the process and conduct research that improves the likelihood of positive health outcomes for patients and families,” he concluded.

Disclosures: For full disclosures of the study authors, visit

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.