Europe’s rare diseases postcode lottery creating health inequality

Patients suffering from rare diseases across the EU, and their families, are struggling on the road to lifesaving and life-altering healthcare. The difficult patient Odyssey is warped by a postcode lottery.

With more than 6,000 rare diseases and an estimated 30 million people living with rare diseases across Europe, providing quality care equitably remains a challenge. Sometimes, however, healthcare inequities reside within countries and health systems.

The first and most significant obstacle lies in getting the right diagnosis, which in turn means a delay in accessing the right treatment if one exists.

“This is due, on the one hand, to the lack of knowledge of these diseases and, on the other hand, to the inequality of access to existing resources,” Juan Carrión Tudela, President of the Spanish Federation for Rare Diseases (FEDER), tells Euractiv. “In Spain, people with rare diseases spend about six years to get the diagnosis, especially adult women,” he added.

Speaking about the variability of access to EMA-authorised medicines for patients in all Member States, Professor Giuseppe Limongelli, director of the Rare and Hereditary Cardiovascular Diseases Unit at the Monaldi Hospital and Director of the Rare Diseases Coordination Centre of the Campania Region, explained that “in general, patients in lower-income countries have to wait significantly longer to access approved treatments compared to higher-income countries.”

“When this treatment represents the only option in life-threatening diseases in children or adults, this time difference leads to unequivocally disease progression, representing a ‘death sentence’ for these patients,” he told Euractiv.

Germany showing leadership

Germany is often cited as the example to follow when discussing access to treatment.

“Our expectation is to have it as soon as the EMA approves it, but in the real world, we have to wait, sometimes for months, sometimes for years,” Annalisa Scopinaro, President of the Italian Federation of Rare Diseases (UNIAMO), tells Euractiv, commenting on access to medicine in Italy.

“In Germany, they give the treatments as soon as they are approved by the EMA, and then, in one year, examine the dossier and decide on the commercial price. In Italy, approval time can reach 432 days,” she adds.

“By the end of 2023 in the EU, there are 147 orphan drugs authorised at the European level, but in Spain, only 53% of them are available. Other states, Germany for example, finance most of them,” Carrión Tudela comments.

A European fund for ultra-rare diseases that will help make treatments immediately available after EMA approval could prove to be a working solution for some patients, according to Scopinaro.

The inequalities within Spain

According to the President of FEDERA, access to diagnosis and treatment is the biggest example of inequity between member states, giving the example of newborn screening programmes. However, that example also highlights the disparities for patients within their own countries.

“In Spain, we have a minimum number of diseases to be screened at a national level (seven pathologies),” he says. But, as he explained: “(…) the different regions have the capacity to increase them (due to the regionalised healthcare systems), which means that in some regions 44 diseases are screened (Murcia or Melilla) and in others, only the minimum number established by the Ministry of Health (seven).”

For comparison, 49 diseases are currently screened at birth in Italy, a number that will increase, according to Scopinaro.

In addition, Spain faces unequal access to orphan drugs because of the different regulatory frameworks in each region, the President of FEDERA says.

On the other hand, optimisation of the connection between the Centres of Expertise for rare diseases and procedures that make up the CSUR network is needed as it has yet to be effective. That would guarantee care for patients and their families without unnecessary travel, Carrión Tudela explained.

Difficulties are also detected at the social level in Spain. “We have different support products and resources in different communities, which have their own public support for therapies or orthoprosthetic products, for example,” he added.

The Italian “postcode lottery”

Italy seems to be facing its own diversities in access to medicine between its regions. “It is not infrequent that one region approves a drug before another, which leads to understandable frustration in patients and relatives,” Limongelli says.

“When AIFA [the Italian Medicines Agency] approves the treatments, the Italian Regions have to introduce the treatment in their regional list, the so-called ‘Prontuari’. So, there is another time lapse between the AIC [national marketing authorisation] and the availability of the treatments in each Region,” Scopinaro explained.

“Not to mention the purchasing centres, which sometimes lead to other delays. If you add these times to the time of the diagnosis, which is currently an average of four years, you can easily imagine that we have to fill a lot of gaps,” she adds.

Scopinaro says patients can travel along the Peninsula to receive treatment but adds that this is not the best way to access it, as obstacles may arise.

For example, “Some treatments could be prescribed but are out-of-pocket, so some Regions that are in the so-called ‘Piano di Rientro’ (recovery plan) cannot give them to patients. That creates differences, and inequalities among citizens of the same Country (…) So, we are trying to reduce the differences with better planning and horizon scanning.”

Regional clinical pathways

Unfortunately, the ‘postcode lottery’ for Italian patients with rare diseases isn’t restricted to access to medicine.

Limongelli explains how regions may lack expertise centres for a disease or a group of them or regional clinical pathways for the diagnosis and management of specific diseases.

The provision of social support and additional care, such as physiotherapy and speech therapy, also varies in Italy.

In Italy, regional differences in care packages are generally related to the higher versus lower income and resources for the health systems – which is generally higher in the north compared to the south of Italy. It is also related to these resources being readily available in economically stronger regions compared to poorer regions where there tends to be central control of the health system expenses.

“These are the main reasons why people with rare conditions with high care requirements move from the worse to the better ‘served’ region or sustain long commutes to see specialists (the so-called inter-regional mobility),” said Limongelli.

The Campania example

The Campania Region in Italy has been a step ahead in providing quality healthcare to its rare disease patients.

The Region just approved its second regional Rare Disease Plan (the first one, based on the first national plan in Italy, was approved in 2018).

“We decided to move fast to make the change that could not be deferred any more,” says Limongelli, Director of the Rare Diseases Coordination Centre of the Campania Region.

“We are now creating new clinical pathways for specific diseases, including a connection between the main hospital and the community, in a ‘hub-spoke-satellite model’ that will allow the patients to find responses close to their residential area as much as possible,” he explained. 

Overcoming the obstacles

For Juan Carrión Tudela, global and national strategies, action plans and legislative frameworks that contribute to homogenising resources and access to resources are needed.

As Spain prepares a new revision of its National Strategy on Rare Diseases to continue national action, the president of FEDERA emphasises the importance of coordinating “the different initiatives on rare diseases that we have in Spain to ensure that all people have the same rights.”

He cites the Rare 2030 Project, which proposes specific policy recommendations for improving the future of people living with rare diseases in Europe, as one of the best examples of good practice in rare diseases.

Collaboration is also important for the president of UNIAMA. Although she admits that “there is no unique solution to these issues,” she underlines the need “to act on the system to change administrative procedures.”

“The different institutions should talk and work together to try to find where the main problem is and to proceed forward step by step, untying knot by knot,” she explained.

Among the possible solutions to be adopted across Europe, Scopinaro recommends that the cost of the treatments be considered an investment instead of an annual cost. However, she recognises the difficulty of such an implementation.

Addressing inequalities

To overcome inequalities in healthcare for these vulnerable patients, Limongelli suggests a series of actions, such as enhancing Horizon Scanning to early detect new orphan drugs coming into the market and improving collaboration between national regulatory medicine agencies and regional authorities, amongst others, to overcome the problem of inter-regional mobility.

Also, he underlines the need for a national list of medicines that are homogeneously and rapidly available in all regions and a clinical pathway for diagnosis and management approved at the national level and then adjusted at the regional level.

“Unfortunately, there is no magic formula, but there is also a general certainty in the world of rare diseases: whatever model we choose or aim to develop, it can only work with a universal agreement and interplay of all the stakeholders, such as policymakers, industry, patients’ associations, researchers, clinicians, pharmacists, and all the actors in the field,” he said.

[By Vasiliki Angouridi, Edited by Brian Maguire | Euractiv’s Advocacy Lab]

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