Rare diseases have historically been relegated to the background in health agendas, despite their real impact: more than 30 million Europeans live with one of these pathologies. This figure is not marginal, but the expression of a structural challenge that tests the European Union's capacity to guarantee equity, cohesion, and universal access to health.
One of the main obstacles remains the delay in diagnosis. For many patients, the process to obtain a clear answer drags on for years, with an unbearable personal, clinical, and social cost. In this context, genetic diagnosis is consolidated as a transformative tool. Advances in genomics allow for the identification of diseases with greater precision and in earlier stages, reducing uncertainty and facilitating timely interventions. Europe has the necessary knowledge and technological capacity; the challenge is political and organizational: to systematically integrate these advances into healthcare systems and guarantee their accessibility in all Member States.
Newborn screening: a pending priority
Early detection at birth can make the difference between a life conditioned by serious complications and effective early intervention. However, the reality in the European Union remains unequal. There are significant differences in the number of diseases included in screening programs, in the technologies used, and in the follow-up mechanisms. This disparity generates an inequity that is difficult to justify: the opportunities for early diagnosis depend, to a large extent, on the place of birth.
Moving towards greater European convergence in neonatal screening is, therefore, a priority. It is not about homogenizing national systems, but about establishing common minimum standards, strengthening coordination, and facilitating the incorporation of innovations such as genomic diagnosis. Initiatives such as the IMPaCT-GENóMICA project, led by Ángel Carracedo, demonstrate the potential of cooperation in genomics applied to public health. The combination of expanded neonatal screening and genetic diagnosis constitutes an effective way to reduce diagnosis times and improve health outcomes.
Overcoming fragmentation: the need for European scale
The dispersion of data, knowledge, and clinical experience continues to limit progress in an area where collaboration is essential. Rare diseases require scale, and that scale can only be achieved at the European level. Sharing data securely, strengthening reference networks, and coordinating research are necessary conditions for moving towards a more efficient and equitable model.
In this context, isolated initiatives are no longer sufficient. Europe needs a common framework that provides coherence, direction, and implementation capacity. Hence the importance of the legislative initiative (INL) report currently underway in the European Parliament.
Towards a European regulation on rare diseases
To overcome fragmentation, it is necessary to move towards an instrument with transformative capacity. A European regulation would allow establishing a binding framework with common standards, measurable objectives, and effective coordination mechanisms among Member States.
It is not about replacing national competencies, but about complementing them where European action adds value: data coordination, harmonization of diagnostic criteria, promotion of research, and guarantee of equitable access to innovation. Furthermore, it would allow aligning key policies, avoiding duplication and maximizing impact.
The INL represents a decisive political opportunity to build a true European pillar in rare diseases. We are promoting a broad agreement so that the Europe of health is also a reality for those living with these pathologies.
Patients, at the center of the action
Placing patients at the center is not only an ethical requirement, but a condition for effectiveness. Their experience allows for the identification of system shortcomings and the design of more tailored responses. Noah Higón, as an activist, expert, communicator, and a patient herself with several rare diseases, is a perfect example of the indispensable work patients perform in the public sphere and their contribution to enriching health policies. Therefore, incorporating the voice of patients structurally is essential to achieve sustainable results.
Ultimately, the debate on rare diseases transcends the technical: it is a question of collective priorities. These pathologies may be infrequent, but the lack of response should not be. Europe is measured by its capacity to protect the most vulnerable and not to leave anyone behind