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East Genomics

Monogenic Diabetes

Lead: NHS South West GMS Alliance

Monogenic diabetes is a rare form of diabetes caused by a mutation in a single gene and can often be misdiagnosed as type 1 diabetes.

This project aims to reduce variation in the diagnosis of monogenic diabetes to ensure the expected 8 in 100,000 case are identified.

This will be achieved by reviewing the equity of access, development of testing pathways, raising awareness with healthcare professionals and deliver training to support the workforce.

Accurate diagnosis can lead to earlier changes and better outcomes for patients, often eliminating the need for insulin.

As of June 2022, 115 out of 129 NHS Trusts have a Consultant champion and 87 have a Nurse champion.

Three training and education courses ran in 2021/22 with 815 delegates attending and an online course developed with 269 registrations.

General information on monogenic diabetes:

  1. What is Maturity-Onset Diabetes of the Young (MODY) - website
  2. Neonatal diabetes website
  3. Course on genomics and monogenic diabetes
  4. Training in Diabetes Subtypes

The training sites (3 & 4) above all have case examples.

When to consider genetic testing:

  1. Please see the guidelines for genetic testing in MODY via the website
  2. You can also use the MODY calculator app via the Exeter Diabetes website

What do you need to do:

  1. If they meet eligibility criteria for genetic testing, complete the appropriate genetic test referral form
  2. Details on c-peptide and autoantibody testing can be found here
  3. Various tests for diabetes subtypes - link

Resources for clinicians:

  1. For those wanting to be local experts or Trust level monogenic diabetes leads there is a self-paced online training course and 2 day training course
  2. Ongoing support through GMSA diabetes consultant and Genetic Diabetes Nurse leads to extend / further develop skills (and access to Masterclasses once they are developed). Local GDNs can be found on our website.

Resources of patients:

  1. Information for people with diabetes
  2. Information for family members with diabetes

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