East Genomics

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Monogenic Diabetes

Ensuring equal access to prenatal genomic testing for families who may benefit.

What is Monogenic Diabetes?

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

If diagnosed, people with MD can better control their diabetes, with better quality of life and fewer diabetes crises, whilst accessing less invasive treatment. Accurate diagnosis can lead to earlier changes and better outcomes for patients, often eliminating the need for insulin.

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

What are we doing?

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.

Progress and next steps

  • Three training and education courses ran in 2021/22 with 815 delegates attending and an online course developed with 269 registrations.
  • As of June 2022, 115 out of 129 NHS Trusts have a Consultant champion and 87 have a Nurse champion.
  • Next steps are to ensure that each acute trust within the region has a trained nurse and doctor MD champion for both adults and paediatrics.

Meet our team

Watch our Monogenic Diabetes BITE-sized session from May 2023

Link: https://youtu.be/TxUcdIKp2fY

Watch Regional Genetic Diabetes Nurse Anita Murphy speak about our MODY work at a Showcase event we held in May 2023

Link: https://youtu.be/iLDtEW0nVGw

Information for healthcare staff

General information on monogenic diabetes:

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

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 (opens in a new tab)
  2. You can also use the MODY calculator app via the Exeter Diabetes website (opens in a new tab)

What do you need to do:

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

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 (opens in a new tab)
  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. (opens in a new tab)