For patients with rare diseases, clinical collaboration at EU level is vital | Professor Jill Clayton-Smith

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blood drip

As a clinical geneticist, Jill works closely with colleagues across the EU on the diagnosis, management and treatment of rare diseases. Her patients benefit from her access to a wide pool of experts, specialist tests and clinical research. And vice versa. Jill’s anxious that leaving the EU could jeopardises these links, which are not only useful for clinicians and researchers, but vital for patients.

Today I am in Brussels for the day participating in a workshop to plan work for RD-SOLVE, an EU project funded under the Horizon2020 programme. The project aims to use new methods and  technologies to look for the cause of rare diseases in patients who have exhausted all the tests their own healthcare team’s researchers  have to offer. 

The ideas we are discussing are innovative and exciting and there is a buzz in the room. There are many logistical, legal and ethical issues to discuss, as well as some amazing science, and we are all learning from each other.  

I already have a set of action points to take away, some of direct relevance to my everyday work in clinical genetics, as well as to this current study. What’s more, I have collected email and website addresses and contact points for a number of new initiatives, databases and clinical research groups along the way. 

I have a lot of things to look up – some countries are way ahead of us in the handling of patient data, for example, and there are new bioinformatic terms to get to grips with. At lunchtime, I get a chance to touch base with my colleagues from Dijon, Nijmegen and Tuebingen. 

We share our ideas on patient consent, setting up patient registers and working with industry. This has really been a profitable day for me and I will go home with many new ideas and keen to help to get our collaborative study underway.

Several times during today I have been reminded of a patient I have known for eighteen years now, and whose mother rang me just yesterday to ask me if there was any update on his investigations. I met him at the age of six weeks. He has a complex, undiagnosed rare disorder which is almost certainly genetic in origin but which has defied diagnosis. 

As I take the phone call, my secretary struggles into the room, bending under the weight of the patient’s case notes (we are still using paper records). As I speak to his mum, I flick through the large amount of correspondence and remind myself of his investigation results, which I summarise every year or so. They include a wide variety of tests, from blood to biopsies – some of them really not pleasant ones, either. 

They have been carried out at healthcare institutions up and down the country as we have spread our net wider and wider to achieve a diagnosis. Most recently, we have used state-of-the-art genetic testing to search for a cause, yet despite all this we are still without an answer. 

I would dread to think of the cost of all of these investigations, let alone the cost to the family of their visits to hospitals and time off work. On this occasion, we discuss progress with further genetic testing and we also talk about another important issue, transition of our patient’s care from paediatric to adult services and how this is being managed. I have known this family so long we are on first-name terms and I feel a little guilty that we have such a good relationship, despite my abject failure to make a diagnosis.

But today, I have hope again. Our joint EU project offers further opportunities for diagnosis and I am sure this family will jump at the chance to be involved. There is now also the possibility to seek a broader range of expert clinical opinions through the new European Reference Network, ERN-ITHACA, that we have just been approved to coordinate from Manchester. 

For a patient like this, there are some positive things we can offer to try to make a difference. Even if we don’t immediately get a diagnosis, I know that my colleagues from Romania and Italy have extensive experience in the area of transition to adult care. Through our ERN, sharing this experience has the potential to improve the care of many of the patients from our 38 European centres.

But back to reality. Yesterday, I was giving a talk to my paediatric colleagues in Manchester about the activities being undertaken by European Reference Networks and the word Brexit was included on my ‘challenges’ slide. We cannot always diagnose and manage rare disease patients in the best way working alone, or even working just within the UK. We have to look more broadly to get the type of expert opinions and information we require and access the specialist tests we need. 

During my career, I have always been able to share opinions, research, and access training and diagnostic tests from my EU colleagues, to the benefit of many of my patients. I have given something back, too, by moderating rare disease diagnostic sessions every year at the European Society of Human Genetics meeting, and been able to host trainees in our department, which we’ve reciprocated by sending our trainees to EU centres to further their experience. 

I am anxious now that we will be at risk of losing these links which are not only useful for us as clinicians and researchers but vital for our patients. 

I check the timescale for recruitment of my patient into the EU research programme. I am relieved that for him, at least, I am not too late but worry about similar patients in the future and hope that negotiations can protect these links which are vital to patients with rare diseases. 

As we finish, my EU colleagues reassure me that I am very much ‘one of them’ and they are anxious not to lose those of us for the UK. I am included in the joint photograph. It’s good for all of us that we belong.

Professor Jill Clayton-Smith is a consultant clinical geneticist and honorary professor in medical genetics at the Manchester Centre for Genomic Medicine. Follow her on Twitter @gm_jill

Find out more

The Brexit Health Alliance has warned that patients could suffer if a 'worst case scenario' Brexit ended healthcare arrangements between the UK and EU. The alliance is calling on Brexit negotiators on both sides to take steps to ensure this does not happen.

Discover more in the Brexit Health Alliance's new briefing Maintaining reciprocal healthcare for patients after Brexit.

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