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Research and Projects

Using pharmacogenetics testing to identify monogenic diabetes earlier (The UNITED project)

Who is involved?

Theme: CLAHRC - Diagnostics & Stratified Medicine
Status: Live


Monogenic diabetes usually presents in patients under the age of 30 years, and so is often misdiagnosed as type 1 diabetes leading to patients receiving more invasive and costly treatment than is necessary. Identifying these individuals and changing their treatment to that which is more appropriate could lead to cost savings to the NHS.

We undertook an economic evaluation of four strategies to identifying individuals with monogenic diabetes from the perspective of the NHS, and compared them to a strategy where no attempt to identify individuals is made.

The four strategies are:

  1. Ad hoc testing (where referral for genetic testing is based on a clinician’s decision).
  2. Clinical prediction model (systematic referral for genetic testing based on the estimated risk of having monogenic diabetes as calculated by a statistical prediction model).
  3. Biomarkers (systematic referral for genetic testing based on results of biochemical and immunological tests).
  4. Genetic testing of everyone aged <30 years old when they were diagnosed with diabetes.

We have developed a decision analytic model to evaluate these strategies. This evaluation is part of a larger study to estimate the prevalence of monogenic diabetes and assess the impact on patients of changing their treatment (based on a misdiagnosed) to more appropriate treatment based on a diagnosis of monogenic diabetes. The project was funded by the Health Innovation Challenge Fund, a parallel funding partnership between the Wellcome Trust and the Department of Health.

Project aims and objectives

The project aims to:

  • Develop a decision model
  • Evaluate strategies to identify individuals with monogenic diabetes using the decision model.

Project impacts

Peters JL, Anderson R, Hyde C (2013) Development of an economic evaluation of diagnostic strategies: the case of monogenic diabetes. BMJ Open 3:e002905.

Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson ER, Hattersley AT (2017) Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. Diabetes Care; 40:1017-1025

The results of our evaluation have been submitted for publication.

Next Steps

We are currently looking to develop this work further to address clinically relevant questions related to the identification and subsequent treatment change for individuals with monogenic diabetes. 

Related publications

Shields B, Peters J, Cooper C, Lowe J, Knight BA, Powell RJ, Jones A, Hyde C, Hattersley AT. Can clinical features be used to differentiate type 1 from type 2 diabetes? A systematic review of the literature. BMJ Open 2015; 5:11


Rob Anderson, Bev Shields, Sophie King, Michelle Hudson, Maggie Shepherd, Tim McDonald, Ewan Pearson, Andrew Hattersley