Ensuring equal access to prenatal genomic testing for families who may benefit.
Please note, this project has now closed. See also our Glucokinase hyperglycaemia testing within maternity services project.
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 did we do?
We reviewed the equity of access, developed testing pathways, raised awareness with healthcare professionals and delivered training to support the workforce.
Update on progress
This transformation project has now closed.
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@nnuh.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
