Broader screening for pathogenic or likely pathogenic variants associated with endocrine tumor syndromes allows the detection of people at risk of developing the diseases, according to a new study published in BMC Medicine. Screening also results in the uptake of risk management and facilitates relevant diagnoses.

“Further research will be necessary to continue to determine the clinical utility of screening diverse, unselected populations for such variants,” the authors of the study wrote.

Currently, the decision about genetic testing is necessary for hereditary endocrine tumor syndromes such as medullary thyroid carcinoma (MTC) is based on the personal and self-reported family histories of patients. However, it is known that broad screening can better identify people with pathogenic or likely pathogenic variants of other diseases, leading to earlier diagnosis and better treatment.

Continue Reading

To assess whether this kind of approach would also be useful for people with endocrine tumor syndromes, a team of researchers led by Adam H. Buchanan, MS, MPH, CGC, from Genomic Medicine Institute in Geisinger in Danville and Geisinger Commonwealth School of Medicine in Scranton, Pennsylvania conducted an observational study of people informed of a pathogenic or likely pathogenic variant of the MEN1, RET, SDHAF2, SDHB, SDHC, SDHD, or VHL genes.

Read more about the genetics of MTC

Pathogenic or likely pathogenic variants in the genes in question were identified in 199 of the 130,490 people who were assessed. Of these, 80 were disclosed during the study period. The majority of them (81%) did not have prior evidence of the result in their electronic health records. Five participants had a personal history of syndrome-related features and 16 had a positive self-reported family history.

Following disclosure, more than half of the patients (55.4%) completed a recommended risk management behavior and 17% were diagnosed with a syndrome-related neoplasm following the completion of a risk management intervention.

“This work demonstrates that screening healthcare populations can enable the detection of individuals at genetic risk for [endocrine tumor syndromes], lead to uptake of risk management, and facilitate relevant clinical diagnoses,” the researchers concluded.


Savatt JM, Ortiz NM, Thone GM, et al. Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort. BMC Med. 2022;20(1):205. doi:10.1186/s12916-022-02375-4