Precision medicine in type 1 diabetes

Abstract

First envisioned by early diabetes clinicians, a person-centred approach to care was an aspirational goal that aimed to match insulin therapy to each individual's unique requirements. In the 100 years since the discovery of insulin, this goal has evolved to include personalised approaches to type 1 diabetes diagnosis, treatment, prevention and prediction. These advances have been facilitated by the recognition of type 1 diabetes as an autoimmune disease and by advances in our understanding of diabetes pathophysiology, genetics and natural history, which have occurred in parallel with advancements in insulin delivery, glucose monitoring and tools for self-management. In this review, we discuss how these personalised approaches have improved diabetes care and how improved understanding of pathogenesis and human biology might inform precision medicine in the future.

Keywords: C-peptide; Continuous glucose monitoring; Genetics; Insulin; Personalised medicine; Precision medicine; Review; Type 1 diabetes.

Fig. 1

The Eisenbarth model continues to inform strategies for disease prevention and, more recently, precision medicine approaches. Using its most up-to-date form, which describes the stages of type 1 diabetes proposed by Insel and colleagues [16], this figure addresses precision medicine approaches that are, or could be, used at each stage of the model. Beginning in the predisposition phase, we see a future of precision prediction in the form of genetic screening programmes. In stage 1 disease, where autoimmunity begins, and entering into stage 2, current precision prevention options are limited. Screening for autoantibodies in those at high risk is a current helpful option for identifying early disease, with ongoing and future efforts focusing on better identification of these stages and early intervention therapeutics. Around diagnosis, current methods for the precise classification of type 1 diabetes, such as C-peptide measurements and classification models that use a combination of biomarkers, can enable the correct application of precision treatment in type 1 diabetes. In stage 3 overt diabetes, a number of therapies, including advanced technology and education programmes, are already employed in clinical care, with immune and stem cell replacement therapies on the horizon. This figure is available as part of a downloadable slideset

Fig. 2

Roadmap for precision medicine in type 1 diabetes across the aspects of prediction, prevention, diagnosis and treatment. Steps 1–4 describe the stages of discovery, validation and implementation required for successful precision medicine approaches. The colour scale depicts the current strength of evidence for each of these steps and highlights gaps that could be targeted in the future. DKA, diabetic ketoacidosis. This figure is available as part of a downloadable slideset