The UNITED project: Using pharmacogenetics testing to identify monogenic diabetes earlier

South West PeninsulaMetabolic and Endocrine
Start Date: 1 Aug 2010 End Date: 31 Dec 2016

The UNITED project: Using pharmacogenetics testing to identify monogenic diabetes earlier


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

A paper detailing the development of the decision model has been published:

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

Professor Andrew Hattersley