Poland sets sights on tackling postcode lottery in rare disease care

Health experts at a high-level conference in Warsaw on 10 April said the European Union needs a comprehensive action plan for rare diseases to complement existing legislation, support investment, and strengthen cooperation at both EU and national levels. 

“Deepening cooperation in this area allows us to effectively help people suffering from rare diseases. A common strategy of member states will enable better access to diagnostics and therapy throughout Europe,” said Izabela Leszczyna, Polish Minister of Health.

The event, “Towards an EU Action Plan on Rare Diseases: National Plans and European Cooperation,” was organised by the Polish Ministry of Health as part of Poland’s presidency of the Council of the European Union, in conjunction with the European Economic and Social Committee (EESC) and the Medical University of Warsaw.

Rare diseases are not so rare

“Security is one of the priorities of the Polish presidency in the European Union. Health security, with a particular focus on patients, is one of the dimensions of this security,” stated Prof. Rafał Krenke, Rector of the Warsaw Medical University, at the start of the conference.

He acknowledged that rare diseases affect millions of people worldwide and remain one of the most underestimated problems. They are also among the most difficult in terms of both research and patient care in diagnostics and therapeutics.

“It must be admitted, however, that important steps have already been taken in this direction, both at the international and national level,” he said.

More than 36 million people across Europe suffer from rare diseases, but the impact of these diseases extends beyond the patients to their families as well.

“We always speak about the 30 or 36 million rare disease patients. Please stop! We should speak about 100 million European or other citizens,” said Ágnes Cser from the European Economic and Social Committee.

She explained, “We had to realise that the patients cannot live alone without help. So that’s the reason we should protect not only the patients but their families as well.”

Zip-code lottery

Despite the large number of people affected by the problem, access to rapid diagnosis, treatment, and coordinated care still varies depending on the member state.

“Millions of EU citizens suffer from rare diseases, and only 6% of them have access to treatment – and not in every country,” said Adam Jarubas, Chair of the European Parliament’s Committee on Public Health.

In his view, rare diseases are a challenge where the free market does not work effectively because of the small number of cases and, consequently, data, which makes this research difficult and therapies very expensive, as the small scale does not allow for cost recovery from mass sales.

“We must end the ‘geographical health lottery’ that results in unequal access to experienced specialists,” he added.

Actions at the European level

Jarubas emphasised that Poland’s efforts regarding the European Union action plan for rare diseases are being noticed in Brussels.

He also recalled that over the last quarter-century, the EU has supported research on rare diseases with €5.2 billion. He mentioned the recent inauguration of a new seven-year research partnership, the European Rare Diseases Research Alliance (ERDERA).

Olivér Várhelyi, European Commissioner for Health, spoke in a similar vein, noting that European countries struggle with difficulties in quickly recognising rare disease entities and offering patients appropriate treatment.

“79 per cent of rare diseases still have no treatment. Patients must have access to the best therapies, the most innovative ones, regardless of where in Europe they live,” he said.

He emphasised that reform and legislative changes at the pharmaceutical level are among the EU’s key actions.

“Our goal is to improve access to medicines also for patients with rare diseases,” Várhelyi indicated, adding that the reform should also address areas where no treatment is available, strengthen cooperation with the European Medicines Agency, as well as accelerate patient access to innovative medicines and affordable therapies.

Strengthening European Reference Networks

Várhelyi referred to the European Commission’s €77 million fund allocation for the 2023-2027 period to strengthen the work of ERN centres so they can be fully implemented.

The goals of the ERNs focus on enhancing access to diagnosis and treatment for patients facing rare diseases or other challenging clinical cases. Within the network, assistance can be obtained in developing recommendations and improving clinical practice.

“Currently, the biggest challenge we face is that the potential of ERN networks is not sufficiently utilised due to the low level of integration of centres with national healthcare systems,” he said. The Commissioner added: “To this end, we have created an initiative to integrate these networks with national systems effectively.”

According to experts participating in the conference, national plans for rare diseases are crucial, but to achieve sustainable progress, deeper European cooperation is needed, among other things.

Summarising the conference, Ágnes Cser from the European Economic and Social Committee also added that cooperation should involve all stakeholders – patients, EU institutions, member states, healthcare workers and non-governmental organisations.

[Edited by Vasiliki Angouridi, Brian Maguire]