A recent study discovered that population-based genomic screening can help in the early diagnosis of medullary thyroid cancer (MTC) in patients with RET gene variations.

MTC accounts for 2 per cent to 5 per cent of all thyroid cancer cases and 13 per cent of all thyroid cancer-related fatalities. Variations in the RET gene are responsible for about one-fourth of MTC cases, which are inherited.

The Geisinger study 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 thyroid cancer prior to receiving these genetic results.

Twenty of these patients chose to have a thyroidectomy after learning of the RET variant; 13 also had lymph nodes removed. Of the 20 patients who chose to have surgery, cancer was detected in 12. Two additional patients had C-cell hyperplasia, a known precursor to MTC. The results were published in JAMA Otolaryngology - Head and Neck Surgery.

While genomic screening can provide opportunities for early detection and treatment of MTC, more work is needed to ensure patients have the education and resources they need to understand the condition and make decisions about their care based on their genetic risk factors, the research team said.

"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 unrecognised 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."