Rare diseases: MEPs call for faster diagnoses and better access to treatment

Reduce inequalities in screening, diagnostics, and treatment

Voluntary joint procurement of rare disease medicines

EU-level care pathways to address the needs of children in particular

MEPs from the Committee on Public Health want to strengthen EU action on rare diseases with a dedicated law improving screening, diagnosis, research, and support for patients.

In a legislative initiative resolution adopted on Monday by the Committee on Public Health (SANT) with 33 in favour, 3 against and 5 abstentions, MEPs push for a dedicated EU law addressing rare diseases (those affecting fewer than five in 10,000 people). This new law, they say, should improve diagnostics, ensure equal access to treatments and therapies, increase investment into research and innovation, and provide for patient-centred care pathways. MEPs also want to see common rare diseases benchmarks and time-bound targets to monitor progress.

Diagnostics and screening

To reduce delays in diagnosing rare diseases, MEPs are proposing a binding coordination mechanism, the European Newborn Screening and Early Diagnosis Steering Committee, to coordinate between EU countries, provide targeted support to those countries with limited capacities, and create EU-level guidelines on relevant rare diseases. The goal is to reduce the time patients receive a diagnosis, with the aim of reaching diagnosis within one year of an initial medical consultation.

MEPs foresee an EU roadmap for improved diagnosis to ensure that advanced diagnostics including genomic technologies are used as widely as possible. It should include common objectives, minimum recommended standards and measurable targets. Newborn screening should become standardised and systematic to address current territorial inequalities in screening.

Equal access to treatment

To ensure that patients have equal access to treatment regardless of where they live in the EU, MEPs want stronger cooperation between member states, including the joint procurement of orphan medicines and treatments, and joint pricing and reimbursement projects. EU-level coordinated reimbursement for orphan treatments should also be explored.

Where national healthcare systems are limited by the nature of rare diseases (for example, where low caseloads lead to a lack of local clinical expertise), the text calls for the creation of European rare diseases lighthouses as joint centres of expertise that would pool and patient data and provide services to all member states in their area of expertise.

Care based on specific patient needs

To support patients living with rare diseases, as well as their caregivers and families, MEPs want to see holistic, patient-centred and multidisciplinary care pathways including inclusive education, employment and progression to adulthood for patients with rare diseases. The Commission should develop guidelines on patient journeys, particularly the journeys of child patients, to develop common criteria and train healthcare professionals accordingly.

Research, innovation and data

MEPs argue that paediatric rare diseases constitute a “critical area of unmet medical need” due to low prevalence and insufficient research efforts and investment. To speed up the development of treatments for affected children, more regulatory, financial and scientific support is needed, according to the text.

To accelerate the development of diagnostics and treatment, the Commission (with the systematic involvement of patient organisations) should establish a rare disease research agenda to ensure that EU funding programmes are aligned.

Coordinating and pooling research infrastructures, biobanks and relevant data platforms could improve diagnostics and secondary data use for research. MEPs note that clinical trials should be better coordinated across borders and related administrative procedures streamlined, where possible without lowering safety standards. Existing European Reference Networks (ERNs) should be strengthened as hubs for training, research and expertise. MEPs want member states and the Commission to support the involvement of ERNs in cross-border and multinational research activities, and to provide them with