Glucokinase hyperglycaemia
Establishing equitable genetic testing for glucokinase hyperglycaemia during the pregnancy pathway.
What are we trying to do?
Glucokinase hyperglycaemia is an inherited genetic condition which means that it is passed on in families.
It is often confused with diabetes.
People with glucokinase hyperglycaemia are not diabetic, but they do have mildly raised blood sugars. It is not known to cause any long term health conditions.
However people with glucokinase hyperglycaemia are commonly misdiagnosed with gestational diabetes when they are pregnant and often find themselves on medication to control it.
We are leading a project to establish a testing pathway within maternity diabetes services to correctly identify people with glucokinase hyperglycaemia during their pregnancies.
Why is this important?
By offering genetic testing for glucokinase hyperglycaemia to women who have high fasting blood glucose levels, we can accurately diagnose people with this condition much easier and help people to get the right treatment at the right time and avoid potentially unnecessary medication.
Who is eligible for testing?
To be eligible for genetic testing, a pregnant woman must have the following:
Gestational diabetes in current pregnancy
AND
Fasting blood glucose of 5.5 – 8mmol/l (laboratory sample)
AND
Body Mass Index of <27 kg/m² if high prevalence of type 2 diabetes ethnic group, or <30 kg/m² if white
Note: As glucokinase hyperglycaemia causes a stable mildly raised blood glucose, if a patient has ever had a fasting blood glucose level of under 5.5mmol/L they would not require testing.
Learn more
We are currently working on our new e-learning module which will be available very soon.
In the meantime, there is information available on the NHS Learning Hub. You’ll need your eLearning for Health log-in details to access this resource.
If you are a patient, we have three information leaflets available for you.
Resources
Patient information leaflets:
- Glucokinase hyperglycaemia (GCK) testing in pregnancy – designed to be given by a clinician when someone has been diagnosed with gestational diabetes and meets national genomic test directory eligibility criteria for testing.
- Diagnosed with Glucokinase hyperglycaemia (GCK) – designed to be given by a clinician when someone has a positive genetic test result for GCK.
- Glucokinase hyperglycaemia (GCK) information for family members – designed to be given to the pregnant woman to pass on to her family members.
Search Monogenic + Diabetes + Maternity (available April 2024)
*E-learning module coming soon*
National genomic test directory
NHS England » National genomic test directory
The University of Exeter:
Diabetes Genes > Information for patients and professionals on genetic types of diabetes > Home page
R142 test request form:
Record of discussion form:
nhs-genomic-medicine-service-record-of-discussion-form.pdf (england.nhs.uk)