Endocrine Abstracts

Genetic counseling has long been an integral component of the care of individuals and families with hereditary endocrine neoplasia syndromes. Molecular biology has made a great progress during the past years, and genetic testing and genetic counseling have received more and more public attention. The recent progress, especially in the next-generation sequencing (NGS) technology allows multiple genes or even the whole-genome to be sequenced with high resolution and speed. Nowadays, the NGS has found a firm place in carrier identification and genetic counseling of individuals affected by endocrine neoplasia syndromes. However, generation of a large amount of genomic data in a short time has led to challenges in variant identification and interpretation of the test results. The NGS technology together with other high-throughput molecular methods have greatly increased the number of variants of uncertain significance (VUSs) in clinical practice and research. Also NGS-associated unintentional incidental findings as a by-product of genetic testing have become more frequent. Because the great deal of genetic variation is rare and even unique to individuals, the VUS “issue” is likely here to stay. However, the long-term solution to the VUS interpretation difficulties is to gain more data. Functional studies of genes and variants, and additional population-level data with accurate phenotyping will in the future improve variant classification. Reduced prices and even more sensitive screening methods coupled with advanced bioinformatics capabilities will increase the uptake of genetic testing and counseling in endocrine neoplasia. While there are many challenges in the area, there are even more significant opportunities to use genome-wide technologies in multiple medical situations, including the molecular characterization of rare endocrine neoplasia, the individualization of treatments, and population screening for disease risk.