The Spanish Association of Orphan and Ultra-Orphan Drug Laboratories(AELMHU) has presented its contributions to the Draft Order updating the neonatal screening portfolio and the Genetics Advisory Committee.
This regulatory project proposes the incorporation of rare diseases in public health surveillance systems, which for AELMHU represents "a significant advance in their recognition and management". To this end, a specific information system is established within the framework of surveillance of non-communicable diseases, with the aim of improving the identification, monitoring and epidemiological analysis of these pathologies. From AELMHU, we believe that this measure will optimize clinical and health decision-making, favoring more effective strategies for prevention, diagnosis and treatment.
Likewise, the expansion of the neonatal screening program, through the inclusion of new rare diseases, will allow early diagnosis in newborns, substantially improving the prognosis and quality of life of affected patients and contributing directly to improving equity in access to services related to rare diseases, reducing territorial inequalities in health care.
On the other hand, the Association considers that the change in the composition of the Advisory Committee for the Common Portfolio of Genetic Services is a "very significant" step towards a more inclusive and patient-centered healthcare model, by adding two new members representing federations or groups of patient associations, which legitimizes decision-making and guarantees that patient perspectives are considered in the development of genetic services.
RECOMMENDATIONS
After analyzing the public hearing, AELMHU has participated in the Draft Order with the following recommendations, among others:
- Implement a regulatory framework that guarantees and promotes the harmonization of all screening programs in our country to ensure equity of access for the entire target population.
- Include as many rare diseases as possible in the neonatal screening program.
- To promote the implementation of a national financing mechanism that guarantees equity in neonatal screening throughout Spain.
- Promote public-private collaboration in research and development of analytical techniques and tools.
- To promote active coordination between the regional registries and the State Registry of Rare Diseases.
- Integration of the perspective of patients and their representatives in decision-making processes related to newborn screening.
