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
- Dr Vidya Srinivas, Project Lead and Consultant, Norwich and Norfolk University Hospitals (vidya.srinivas@nnuh.nhs.uk)
- Anita Murphy, Regional Genetic Diabetes Nurse, East of England (anita.murphy@nchc.nhs.uk)
- Lucy Peck, Project Lead, East GMSA (lucy.peck@nuh.nhs.uk)
- Katy Blakely, Regional Programme Manager, East GMSA (Katy.blakely@nnuh.nhs.uk)
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
