Monogenic abnormalities cause 1-2% of all diagnosed cases of diabetes.

Conditions such as Neonatal Diabetes, Maturity Onset Diabetes of the Young (MODY) and Renal Cysts and Diabetes are examples.

Recognition of these conditions is however not always straightforward and >90% of cases are initially misdiagnosed as having either Type 1 or Type 2 diabetes. If a case is confirmed (by molecular genetic testing) it can prevent the use of inappropriate therapies such that both diabetes control and quality of life can be optimised.

Following diagnosis there are implications for other family members in terms of both increased vigilance and pharmacological treatment options.

The Royal Devon and Exeter NHS Foundation Trust is the UK referral centre for genetic testing in monogenic diabetes and has developed a UK-wide network of specialist nurses whose remit is to provide local sources of education as well as facilitating the diagnosis and management of cases of monogenic diabetes.

This service began in 2002 but there has not previously been a post in Wales which has one of the lowest rates of identified cases of monogenic diabetes in the UK.

1. Maturity onset diabetes of the young (MODY) 
   Diagnosis before the age of 25 years
   Diabetes passed down from an affected parent to their child
   May be managed with diet or sulphonylurea
2. Neonatal diabetes
   Diagnosis <6 months of age
   Often no family history
3. Renal cysts and diabetes (RCAD)
   Renal developmental abnormalities (most often cysts) and diabetes
   In 40% of cases neither parent is affected

• Raise awareness within our region
• Identifying families fitting diagnostic criteria
• Facilitate referral for genetic testing and supporting individuals with positive result through treatment change if appropriate
• Following up other family members and liaising with their local health care practitioners

There is currently one Genetic Diabetes Nurse who is covering Wales (contact details below).

This individual is funded by the UK referral centre based in Exeter and has one day per week to dedicate to this issue.

More information about monogenic diabetes and genetic testing is available at:

http://www.diabetesgenes.org

Genetic Diabetes Nurse

Gaynor Harrison

gaynor.harrison@wales.nhs.uk

Royal Glamorgan Hospital

Lead Consultant for Wales

Sam Rice

Diabetes Centre 
Prince Philip Hospital
Dafen 
Llanelli
SA14 8QF
Sam.Rice@wales.nhs.uk

• New Genetic Diabetes Referral Information Document 2013
• Information of Maternally inherited diabetes and deafness (MIDD)