About the art of care for patients with rare diseases in France

Interview with prof. Guillaume Jondeau

• The French Republic has outstanding achievements in the field of care for patients with rare diseases, for example the implementation of the third national plan for rare diseases.
What circumstances, what people, what qualities of mind and character have decided about these great achievements?

The French National Plan for Rare Diseases has been very efficient in creating the 131 reference centers for rare diseases as well as to identify 500 skill centers. The idea behind is to concentrate the care of patients with rare diseases so that some doctors gain highly specialized expertise in the care of patients with rare diseases, and to facilitate diagnosis and care for patients. This was the first plan (2005-2008).

The second plan (2011-2016), which has also been implemented, created the 23 Filière nationale de santé maladies rares (FSMR): French Networks for Rare Diseases, which is a structure including different reference centers within the same area of expertise, like the new European Reference Networks for Rare Diseases. The main idea is that some reference centers which are working on identical or similar diseases share their experience and increase their expertise. The Filiere also may have different centers in the same thematic group. Actually, the grouping of diseases is very similar to what has been used in ERN. It aims also to facilitate patient and professional orientations in the field of rare diseases, and to facilitate coordination of expertise to offer a structured and global action.

This structuration is clearly the result of a political will, and has been supported by specific funding. The result is clearly an improvement in the knowledge of the disease, a decrease in time to diagnosis.

A third plan for rare diseases has been put in the political agenda in 2016 and is currently under elaboration.

Do you think that big data will be important in the development of knowledge about rare diseases; or rather individual data of particular clinical cases will be more important?

I think there should be no prevention against anything when you are trying to improve care of the patients, and probably different solutions can be found in different situations. Rare diseases are one of the examples of how describing the care of a specific patient is helping other doctors to deal with similar patients. Actually this method of transfer of knowledge is recognized as very efficient, and is now developed during medical studies in France (dossier progressif). On the other hand, the development of healthcare providers help in gathering a sufficient number of patients, with statistics allowing significant conclusions to be drawn. It is also important to get cohorts of patients with minimum bias, and it is clear that referral centers may be sent the worst cases. Multicentric studies with patients coming from centers with different kind of referral may allow more realistic conclusions. Often, the first patients described for a given pathology are the patients the most typical, and therefore the patients with the worse prognosis. Larger multicentric studies then allow recognition of less severe patients, and better prognosis.

Individual European countries do not have implemented national plans for rare diseases. If you were the minister of health in a country that has no national plan, would you seek to leave the status quo or to quickly implement a plan? What are the main advantages of the implementation of national plans for rare diseases?

There are many advantages for the rare disease plan:

1. Increase in the visibility of experts, which are recognized in HCPs validated by the government. Following this recognition, the patients find his way more easily, which is decreasing the time to diagnosis, and therefore probably this decreases the risks associated with the disease (for example the risk for aortic dissection in patients with Marfan syndrome). This increase in visibility is therefore beneficial for patients, but also for science as the expertise may be recognized across borders, and collaborations are eased (cf ERN). This is also useful for official structure, who have a correspondent.

2. Increase in the expertise of experts, who see a large number of patients. Besides, the range of diseases is usually increasing as patients with similar diseases are coming to the reference center. This is also participating in the increase in the size of the center, and therefore its visibility, which is beneficial.

3. Help with structuration of patients associations, and easier collaboration between patients and doctors.

4. Lastly, the different advantages lead to more efficient use of resources, and lead to economic advantages. Because seeing one doctor before the right diagnosis is proposed is less expensive that seeing, because preventing complication allows longer professional life (preventing aortic dissection for example), because if all the patients are in the same place, the organization is more efficient and the material is more often used.

I consider that the rare disease plan was very beneficial from many aspects.

What methods of transferring knowledge about rare diseases to medical students, doctors, general audience are the best in your opinion – which forms of internet transfer of knowledge are the best?

Rare diseases are rare, and it is useless to have everybody educated for all the diseases. Besides it is impossible. Therefore the important thing is to let people know where they can get the information they need. Website is one solution, and for example, the website of the reference center on Marfan syndrome I am responsible for is very often seen by patients, and by doctors. General information in medical meetings are of course beneficial, as doctors become aware that this kind of disease exists, and that they can have to deal with one patient affected by one of this disease: rare diseases are rare, but very numerous, so that 1/20 person is affected by a rare disease.

Books are also useful; ability to communicate with reference centers is important (e-mail, telephone conferences). The main problem of rare diseases is the rarity, which means visibility. Concentrating information and knowledge in centers, website, will always be beneficial as this increases the visibility of these diseases.

 The interview conducted by
Krystyna Knypl

Professor Guillaume Jondeau 300

Professor Guillaume Jondeau

Professor Jondeau has been a Professor of Cardiology since 1999, in Université Paris V, and has moved to Université Paris VII – Denis Diderot, since 2007. He is also leading a research team (team 2 LVTS, INSERM U1148) focusing on aortic aneurysm, and has authored more than 200 publications in peer-reviewed international journals. Professor Jondeau’s research interests are in the field of aortic aneurysms and heart failure.

He is leading the centre de reference for the Marfan syndrome (www.marfan.fr) and related disorders, which is seeing more than 1000 patients every year, following >1200 patients with FBN1 mutations, and is responsible for the organization of the care of these patients throughout the country. Research units on genetics (co-leaded by Catherine Boileau) and pathophysiology (leaded by JB Michel) in INSERM U1148 are closely linked to this reference center.

He is a funding member of the nucleus of the new ESC working group on Aorta and peripheral vascular diseases.

He is leading the Filiere de Sante maladies rares on rares vascular diseases, which is taking care of patients with thoracic aortic aneurysms, aneurysms of systemic arteries, and HHT and lymphatic pathologies throughout France, networking 3 reference centers, more than 30 competence centers, 5 diagnostic laboratories, 3 research units (www.favamulti.fr).

He is leading the European Reference Network on Rare Multisystemic Vascular Diseases VASCERN (www.vascern.eu), gathering 31 centers from 11 european countries and patient organisations.

He is involved in studies in acute heart failure and chronic heart failure. He is a former president of the Heart Failure Working Group of the French Society of Cardiology and has been a member of the board of the Heart Failure Association of the European Society of Cardiology. He is a fellow of the European Society of Cardiology, American College of Cardiology, and American College of Chest Physicians and is a member of the board of the French Society of Cardiology.

Professor Jondeau participated in the steering or executive committees of international trials, and was the principal investigator of investigator-driven and industry-sponsored clinical trials. He was end-point committees member. Prof. Jondeau has authored more than 200 articles in peer-reviewed international journals.

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