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Diagnostics Genetics and epigenetics

Hunt for pathogenic variants in Type 2 diabetes through NGS

sponsored by PerkinElmer

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June 21, 2022 - 11:00 CEST

Diabetes affects 420 million patients worldwide and is forecasted to increase to 700 million by 2030. Diabetes became in 2016 the sixth leading cause of mortality. Among 155 diseases, diabetes care represents the largest and fastest growing portion of health care spending in the USA. 

Type 2 diabetes (T2D) represents more than 90% of all diabetes presentations. It is a complex polygenic disorder. Genome-wide association studies (GWAS) have identified 240 frequent loci associated with T2D risk, but they only explain 20% of T2D heritability.

 Further, the translation of these discoveries into advances in precision medicine has been modest so far. In contrast, the genetic interrogation of monogenic diabetes has yielded insights into key regulators of insulin secretion, leading to actionable examples of genomic medicine (e.g. in carriers of pathogenic mutations in KCNJ11, ABCC8, HNF1A, HNF4A, GCK, HNF1B, GATA4 or GATA6). 

In this context, the genetic diagnosis of young patients with a suspicion of monogenic diabetes has proven cost-effective and improved the quality of life of patients. Recent large-scale association studies have started to bridge the gap between monogenic diabetes and common T2D, as a way to develop precision medicine in diabetes. 

Here, I will present the current sequencing (via whole-exome sequencing) of all the patients with common T2D visiting the department of Diabetology of Liège Hospital (n > 4000 participants). The project aims to show that among current consecutive common T2D patients visiting this department, there is a significant part of patients with “hidden” monogenic forms of diabetes (i.e. not clinically distinguishable), and to demonstrate the effectiveness of genomic medicine of common T2D (in addition to monogenic diabetes). I will show all the methods (including instruments) used in this project, and their QCs.

Webinar Learning Objectives

  • Learn about optimal methods for sequencing thousands of people in the context of precision medicine.

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