The Spanish Association of Orphan and Ultra Orphan Medicinal Products (AELMHU) has participated by sending its contributions to the consultation on a draft Order amending Annexes I, II, III, VI and VII of Royal Decree 1030/2006, of 15 September, which establishes the Portfolio of Common Services of the National Health System and the procedure for its updating.
For AELMHU, rare diseases often lead to an incremental deterioration of patients' health, which makes early detection a determining factor both for their management and progression and for the quality of life of the patient and their family, social and work environment. Neonatal screening, together with the advances being developed in the field of genetics, have proven to be increasingly effective systems for advancing this common goal of early detection, especially in the field of rare diseases. AELMHU therefore believes that neonatal screening should include as many rare diseases as possible, and be equally accessible regardless of the Autonomous Community in which the citizen is located. For the early detection of rare diseases, it is not only necessary to have more screening, but also to have professionals trained and qualified in clinical genetics in order to eliminate inequalities in access to these services and to shorten diagnosis times, which, in the case of rare diseases, can take an average of 5 years in Spain.
The recognition of the speciality of clinical genetics, advocated by the Spanish Society of Human Genetics and FEDER for years, would not only bring Spain in line with the rest of Europe, but would also be key to speeding up patient access to diagnosis of rare diseases. Finally, we advocate that those diseases that are detected early should also, as a consequence, be able to access existing treatments as quickly as possible. AELMHU welcomes the opportunity to participate in this information and public hearing process and trusts that our contributions will be taken into consideration, and we place ourselves at the disposal of all stakeholders involved in this process to discuss and join forces to find solutions to improve the quality of life of people living with rare diseases.
AELMHU, a non-profit association of pharmaceutical companies developing therapies for patients with rare diseases (RRDs), welcomes the opportunity to participate in this process.
