Knowledge-sharing crucial in combating rare diseases

EU member states must encourage cooperation between national centres of reference to improve patients' access to diagnosis and treatment, writes Françoise Grossetête.

By Françoise Grossetête

03 Nov 2015

The EU's regulation on orphan medicinal products is one of the pieces of legislation that gives me the greatest pride, as it was a milestone in the process of incentivising research and development within the area of rare diseases. 

Previously, only eight products had been authorised to treat such diseases. There are now over 110 such products available. 

However, 15 years on from the orphan drugs regulation's adoption, there are still several outstanding needs that need to be met, including improving diagnosis and access to treatments.


Patients suffering from these conditions often find themselves isolated and vulnerable. In its 2009 recommendations on action in the field of rare diseases, the European Council outlined a number of key opportunities to address patients' needs.

One of these was actions was developing European reference networks (ERNs) that would encourage cooperation and knowledge-sharing among national centres of reference.

The 2011 directive on cross-border healthcare, for which I was Parliament's rapporteur, included provisions to enhance coordination between these centres of expertise.

Yet not all countries are progressing at the same pace. It is our duty, as European policymakers, to address the disparities between EU countries by fostering ERNs. Unfortunately, the nature of the networks is still fragmented and piecemeal, hampering their effectiveness.

Therefore, we need to do more to ensure swift implementation of the directive on the application of patients' rights in cross-border healthcare.

In addition, I would also like to see better implementation and monitoring of the 2011 recommendations by the EU committee of experts' on rare diseases (EUCERD) on quality criteria for centres of expertise for rare diseases in member states. Patients suffering from rare diseases often face life-threatening conditions and severe pain.

Speed is essential; they should not have to wait years before being correctly diagnosed. They deserve prompt and appropriate diagnosis, equal access to care and to have their voices heard through patient associations - irrespective of which country they reside in.

The next call for ERNs is in 2016. EU member states must be ready to foster participation from their leading centres for expertise. This initiative shows how European cooperation can be truly beneficial, and transcend differences between healthcare systems.

Many patients still await a diagnosis, or are not yet fully aware of their condition, nor do they know that treatment is available to them. These ERNs could therefore play a pivotal role in bridging the gap between inequalities at national level. 

The interests of patients must come first and it is up to European governments to make the difference.


Read the most recent articles written by Françoise Grossetête - Juggling care and daily life: the rare disease challenge