What is the impact for clinicians?

Genetic diabetes is a very particular challenge. The reason for that is that it’s all new knowledge. It’s not something that’s known by the majority of consultants so we have a real difficulty in how we educate people. Typically, in diabetes and endocrinology we get shown a patient and then we learned about it. If the senior members of staff don’t know about genetic diabetes, it’s really hard for them to instruct. And so that’s why we’ve had to look for different ways of doing this. But it’s really important that every single diabetes specialist knows about these rare diagnoses.

That fact that they are 3% of diabetes diagnosed under 30 means that you are going to see these cases, and if you don’t know about them, they’re going to be missed. So the crucial thing is to raise awareness amongst clinicians and give them the ability to make the diagnosis. The NHS cannot afford to test everyone so we have to make sure that those people that are tested are likely to have it. And that is a very specific clinical skill, something that has been made much better by things like the MODY Probability Calculator and the app. And indeed, with those things, we can now take a lot of the guesswork out of making a diagnosis.

You can also be helped by investigations, things like autoantibodies, but make sure that you do GAD and IA-2, and, ideally, zinc transporter as a way of excluding type 1 diabetes. And the measuring of C-peptide is helpful if the levels are very low because that makes a diagnosis of type 1 diabetes. So we can use those investigations, but in the end of the day, we come down to needing to make a definite clinical diagnosis and that requires a DNA sample to be sent to Exeter. I think the crucial thing here is, if in doubt, to ask. To use the information available on the web, to send emails, to use you genetic diabetes specialist nurse.

The best thing to do is to send a patient who is very likely to have MODY rather than one who possibly could. Particularly at the beginning when you’re trying to convince people that this money is really worth spending. I think for anyone who’s made a genetic diagnosis, they will have absolutely no doubt that the cost to the NHS of making this diagnosis is absolutely worth it.