According to a recent study, population-based genomic screening can aid in the early detection of medullary thyroid carcinoma (MTC) in individuals with RET gene mutations. MTC accounts for 2% to 5% of all thyroid cancer cases and 13% of all thyroid cancer-related mortality.
Variations in the RET gene are responsible for around one-fourth of hereditary MTC cases. The Geisinger research looked at 75 patients who have RET gene variations discovered as part of the MyCode Community Health Initiative. Prior to getting these genetic data, none of the patients showed any signs of thyroid cancer. After learning about the RET variation, 20 of these individuals elected to have a thyroidectomy; 13 additionally had lymph nodes removed.
Cancer was found in 12 of the 20 individuals who elected to have surgery. Two other patients exhibited C-cell hyperplasia, which is a recognised precursor to MTC. The findings were reported in the journal JAMA Otolaryngology – Head & Neck Surgery. While genomic screening can give options for early identification and treatment of MTC, the study team believes that additional effort is needed to ensure patients have the knowledge and tools they need to understand the illness and make decisions about their care based on 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,” said Nicholas Purdy, D.O., FACS, director of head and neck surgery in Geisinger’s department of otolaryngology and a lead author of the study. “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,” said Adam Buchanan, M.S., MPH, chair of Geisinger’s Department of Genomic Health and a co-author of the study. “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.”