Commission launches reference networks to face rare and complex diseases

Andriukaitis: “From my point of view, professionally, I would be very happy if I had such opportunities today compared to my opportunities 20 years ago.” [European Commission]

In an effort to combat rare diseases and improve patient accessibility, the European Commission launched  the European Reference Networks (ERNs) yesterday (28 February).

On the occasion of the 10th annual rare disease day in the EU, at UZ Leuven hospital the Commission presented its long-term plans to tackle the rare diseases phenomenon.

According to the executive estimates, 5-8,000 distinct rare diseases affect 6-8% of the EU’s population – between 27 and 36 million people.

The purpose of ERNs is to provide cross-border healthcare cooperation between European countries, with the goal of pooling knowledge from 900 specialised medical teams to treat rare and complex diseases. 24 ERNs have been established, each focused on a different specialisation.

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The European Commission’s priority when tackling rare cancers such as sarcomas is to ensure European Reference Networks (ERNS) are put in place so that all patients have access to the best expertise available in the EU, Vytenis Andriukaitis told in an interview.

Although the official launch date is Wednesday (1 March), the results of how well the networks are operating will not be seen for at least a year, Health and Food Safety Commissioner Vytenis Andriukaitis told

The challenges

25 member states, along with Norway, have committed to being part of the reference networks. While this could mean a much larger pool of resources and knowledge to draw from when it comes to the diagnosis and treatment of rare and complex diseases, there are also the complicated logistics of 26 different health care systems attempting to work in synchronisation.

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The growing number of cases of rare diseases has raised eyebrows in the EU and policymakers are now exploring ways to understand and tackle the complexity of the phenomenon.

But Andriukaitis believes enough work has been done leading up to the launch to ensure these systems can work together.

“Homework was done implementing (the) cross-border healthcare directive, patient data protection directive, and patient safety issues. It was done, it was good,” he said. “(The participating countries) have more or less common framework of those legal obligations,” the EU health chief added.

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European red tape should not be an obstacle to effective healthcare. For patients with diseases like sarcoma, waiting means suffering and often avoidable death, writes Marlene Mizzi.

“This takes a lot of time and resources,” Andriukaitis continued. “And of course, in a different way, we encourage European clinicians to cooperate, and then clinicians started to think, oh, okay, such open cross-border (cooperation) opens windows to establishing a permanent network of working together. And it was not an easy job…it was a lot of homework and it was done in a very short way, from 2014 to 2016. … I am very proud today we are (in) starting positions.”

The cost

The operating cost of the ERNs will be about €4.6 million per year, as well as an additional €3 million initially to build the infrastructure that will allow the networks to operate, said Xavier Prats Monne, director-general for Health and Food Security.

Monne emphasised that the EU would not be paying for patients’ care — this would still be left to health care systems operating within the member states.

Member states’ contribution

When asked what member states could do individually to make the ERNs operate smoothly, Andriukaitis mentioned the expansion of education efforts and possible reimbursement for care.

“Also important is that they dedicate some money to reimburse treatment or reimburse some services, especially some telemessaging services to send pictures because in some countries it is reimbursed and in some, it is not,” he said.

INFOGRAPHIC: Rare diseases in the EU

Rare diseases affect more than 30 million Europeans, many of whom are children! What is the European Union doing about it?

By increasing the scope of knowledge of health care providers, the launch of ERNs aims to reduce the isolation of both experiencing and treating rare and complex diseases.

“From my point of view, professionally, I would be very happy if I had such opportunities today compared to my opportunities 20 years ago,” said Andriukaitis.

“Can you imagine how you feel professionally when you have crystal clear information that I can ask of my colleagues in Munchen, in Karlskrona, in Helsinki, because I know them to consult me, to organize consilium online, doesn’t matter day or night? Can you imagine? … And you have the opportunity to be together, to ask advice, to treat, to teach, to learn, to have clinical status. It’s brilliant.”

Patient organisation: Unacceptable differences in member states for people with rare diseases

There are huge differences when it comes to access to therapies for patients with rare diseases. The Commission could do more to make member states aware that this is unacceptable, says Terkel Andersen.

Maggie De Block, Belgian Foreign Minister for Health, said, “We must join forces and develop new treatments to provide the best care for our patients suffering with rare diseases. Belgium has concluded a ‘Pact for the Future’ for patients with the pharmaceutical industry, which gives patients access to the latest treatments. In this context, we have signed a Memorandum of Understanding with the Grand Duchy of Luxembourg, the Netherlands and Austria to negotiate with the pharmaceutical industry to keep the prices of orphan drugs in check. It is essential to continue down this path, as by working together we will reap advantages for our patients. The European Reference Networks presented today are another step in the right direction”.

The European Confederation of Pharmaceutical Entrepreneurs (EUCOPE) commented, “Today is a reminder of how incentives set out in the EU Regulation on Orphan Medicinal Products (OMPs) have proved successful in encouraging the development of new therapies for rare diseases from eight before the adoption of the Regulation to 128 in 2016. Despite this excellent progress and a commitment at European level, patients with rare diseases still do not have timely access to the life-saving treatments that they need […] Accessibility varies between EU Member States mainly due to different pricing and reimbursement systems across Europe.”

“Rare diseases pose unique challenges to patients, their families, society, healthcare professionals and healthcare systems. There are between 5,000-8,000 rare diseases, and new rare diseases are being discovered all the time. They affect 350-400 million people, representing 6-10% of the world population,” the International Federation of Pharmaceutical Manufacturers (IFPMA) stated.

“While significant focus has been given lately to rare diseases in the global policy agenda, many countries still lack tailored policy frameworks to help address a large unmet medical need. Most rare diseases are genetic and can be associated with life-long disability, often starting in childhood. Many are chronic, degenerative and life-threatening conditions. It can take over five years to reach the right diagnosis, and many rare disease patients are undiagnosed,” it added.

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