Insights from exome sequencing for endocrine disorders

Exome sequencing in rare familial endocrine syndromes has led to the identification of many disease-associated genes and unravelled new biological pathwaysIn large, population-based cohorts, the use of exome sequencing has identified common, low-risk genetic variants that contribute to common diseases such as type 2 diabetes mellitus and hyperlipidaemiaExome sequencing has provided insights into the pathogenesis of neuroendocrine tumoursExome sequencing has also been used to implicate increased protein kinase A activity in the development of Cushing syndrome and somatic ion channel defects in primary hyperaldosteronismWith lowering costs, increasing availability and high diagnostic yield, the use of exome sequencing in the care of patients with endocrine diseases is expected to increase rapidly in the coming years