The Spanish Association of Orphan and Ultraphan Drug Laboratories(AELMHU) has submitted its comments to the previous public consultation on the Draft Ministerial Order updating the common portfolio of public health services related to information and epidemiological surveillance, population-based programs for neonatal screening and colorectal cancer, and other sections of the annexes of Royal Decree 1030/2006.
In Spain, according to data from FEDER, patients with rare diseases usually wait an average of six years to receive a diagnosis, which leads to a deterioration of their health and in many cases, the development of disability and dependence, which makes early detection a fundamental and determining factor, both for its approach and progression, as well as for the quality of life of these and their family, social and work environment.
For AELMHU, the inclusion of the greatest possible number of RRD in the neonatal screening program is a historical demand. In this sense, the Association welcomes this expansion. We also recognize the efforts of the Ministry of Health in the field of preventive health and its commitment to improve efficiency and equity in early diagnosis through the inclusion of as many rare diseases as possible in neonatal screening, prioritizing the incorporation of all those pathologies that have a validated, safe and effective diagnostic screening technique and test.
However, the Association points out the inequalities between the Autonomous Communities, as some have incorporated more than 40 pathologies into neonatal screening, while others only include the seven diseases that were previously included in the program.
After analyzing the public hearing, AELMHU participates in the Draft Order modifying Annexes I, II, III and VI of Royal Decree 1030/2006, of September 15, which establishes the portfolio of common services of the National Health System and the procedure for its updating, with the following recommendations:
- Implement a regulatory framework: Establish a regulatory framework to guarantee the harmonization of all neonatal screening programs in Spain, ensuring equity of access for the entire target population.
- Include more rare diseases in neonatal screening: Expand the neonatal screening program to include as many rare diseases as possible, prioritizing those with safe, effective diagnostic tests and therapeutic solutions available in the EU.
- Incorporate genetic screening: Consider the inclusion of genetic screening for serious diseases detectable in childhood, prioritizing those with scientific evidence that improves patient prognosis.
- Expedite the incorporation of new pathologies: Develop an agile decision-making system to rapidly integrate new pathologies into neonatal screening, taking advantage of therapeutic and technological advances, such as massive DNA sequencing.
- Prioritization of regional assessments: Prior itize regional assessments and diseases included in the complementary portfolios of some Autonomous Communities, promoting territorial cohesion in the health system.
- Annual technical report on neonatal screening: Encourage the preparation of an annual technical report by the Ministry of Health that evaluates not only the quality and speed of sample management, but also the follow-up after diagnosis.
- National financing mechanism: Develop a national financing mechanism to guarantee equity in neonatal screening throughout Spain.
- Encourage the participation of associations: Encourage the participation of associations such as AECOM and specialized professionals in the incorporation of new diseases into screening and the definition of inclusion criteria.
- Develop an interoperable information system: Create an interoperable information system at the regional and state level for adequate monitoring and evaluation of neonatal screening programs.
- Ensure rapid access to diagnosis: Strengthen coordination between levels of care (primary care and hospital) to ensure rapid detection and follow-up of patients with rare diseases.
- Public-private collaboration in research: Encourage public-private collaboration in research and development of analytical techniques to improve early detection and the quality of life of patients.
- Continuous training programs for healthcare personnel: Promote continuous and specialized training programs for healthcare personnel in charge of neonatal screening, ensuring excellence in technical execution and patient care.
The full text of the allegations submitted to the Public Consultation is available here: See more.
