Genetics of Type 2 Diabetes: Opportunities for Precision Medicine JACC Focus Seminar

Type 2 diabetes (T2D) is highly prevalent and is a strong contributor for cardiovascular disease. However, there is significant heterogeneity in disease pathogenesis and the risk of complications. Enormous progress has been made in our ability to catalog genetic variation associated with T2D risk and variation in disease-relevant quantitative traits. These discoveries hold the potential to shed light on tractable targets and pathways for safe and effective therapeutic development, but the promise of precision medicine has been slow to be realized. Recent studies have identified sub-groups of individuals with differential risk for intermediate phenotypes (eg, lipid levels, fasting insulin, body mass index) that contribute to T2D risk, helping to account for the observed clinical heterogeneity. These partitioned genetic risk scores not only have the potential to identify patients at greatest risk of cardiovascular disease and rapid disease progression, but also could aid patient stratification bridging the gap toward precision medicine for T2D. (C) 2021 by the American College of Cardiology Foundation.

Automated summary

Type 2 diabetes is highly prevalent and contributes to cardiovascular disease. Despite significant progress in identifying genetic variation associated with T2D risk, the promise of precision medicine has not been fully realized. Recent studies have identified sub-groups of individuals with differential risk for intermediate phenotypes, which could aid in patient stratification and bridging the gap towards precision medicine for T2D.