Professor Miles Levy is a consultant endocrinologist at the University Hospitals of Leicester, and Honorary Associate Professor at Leicester University. Miles is on the Founding Group for the Society’s Endocrine Genetic Testing event, taking place this September. We spoke to him about the importance of endocrine genetic testing, why the new Genomic Laboratory Hubs (GLHs) are making testing easier, and how this event can prepare you for the future of clinical practice.

What sparked your interest in endocrine genetic testing?

A few years ago, the subject of genetics came up after a Clinical Committee meeting. I had a run of patients with endocrine tumours due to germline mutations, and we had decided to set up an endocrine genetic clinic. This also coincided with research in our department involving the use of circulating cell-free tumour DNA to monitor cancer. Endocrinology lends itself to molecular diagnoses, and we thought we would be ahead of the game to become the first major adult specialty to really develop endocrine genetics for the NHS. After a chat with Márta Korbonits, Ruth Casey and Paul Newey, we decided to go for it, and devised the first Endocrine Genetic Testing event, which ran in 2023.

Can you explain the significance of endocrine genetic testing in today’s clinical practice, and what it will mean for the future?

Undertaking genetic tests is going to become part of routine clinical practice. The introduction of GLHs means that we can now test for genes in our endocrine patients without worrying about who is going to pay for it (the NHS will). As long as a patient is eligible for testing on the National Genomic Test Directory, we can do the test.

Of course, we need to know what to do with the result and what the gene panels consist of, which is where training events like Endocrine Genetic Testing come in. In the clinic, we have also developed a really user-friendly website that helps endocrinologists work out what gene tests to do in real time. Endocrinology is the first adult specialty to do this.

Within the next few years, endocrinologists will be using resources like PanelApp (a way of looking at what each gene panel consists of) as if they’ve always been doing it. In addition, we will be predicting which tumours and conditions our patients are likely to get, based on inherited conditions. We will also be able to predict a patient’s response to treatment by genotyping the clinical problem that we are presented with, such as the likely response to treatment in patients with endocrine tumours based on somatic mutation.

What main objectives do you hope to achieve through this event?

The main aim is to give clinical endocrinologists the confidence to consider testing for genetic conditions in their own patch. The event will encourage people to understand which routine conditions we should be doing genetic tests on, and how to think about interacting with our clinical genetics colleagues. There is likely to be more mandated training in this area in the endocrinology curriculum for specialist registrars, so we are planning to engrain this formally in endocrinology training. It is still early days, having only run one event last year, so it is an iterative process in terms of the course.

What training need is this event fulfilling?

We have developed this event to ensure consultants and specialist registrars can go through the basics of genetics and work through the kinds of cases they will see in real life. In endocrinology, we are fortunate to have brilliant clinicians and scientists who are some of the best clinical geneticists around.

The day consists of two halves. The morning revolves around lectures on basic principles in genetics and how they relate to the endocrine clinic. This includes both ethical and scientific issues. In the afternoon, workshops will address common situations, such as multiple endocrine neoplasia, familial phaeochromocytomas and paragangliomas, hereditary calcium problems and reproductive genetic topics, such as congenital adrenal hyperplasia.

All the speakers are brilliant and at the top of their game, including Márta Korbonits, Paul Newey, Ruth Casey and Sasha Howard. We will also have help from speakers from Exeter, who are world leaders in the genetics of diabetes mellitus.

What are your top five reasons to attend?

1. To know who you should be doing genetic tests on in an endocrine clinic.
2. To understand how to do a genetic test in real life.
3. To find out how to interpret the result and what the funny letters and numbers mean on a genetics report!
4. To ask all the stupid questions everyone else always wanted to ask, in small, supportive groups.
5. To work through real-life endocrine cases to equip you for the clinic.

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