The Spanish Association of Orphan and Ultra Orphan Drug Laboratories (AELMHU) has submitted its comments on the modification of the July 13, 2007 order of the Department of Health and Consumer Affairs regulating Neonatal Screening in the Autonomous Community of Aragon.
One of the problems that have been pointed out in the field of rare diseases is the great inequity existing between the Autonomous Communities due to the differences between them in this area. Some have incorporated more than 40 pathologies into their portfolio of neonatal screening tests, while others only have the diseases that have so far been included in the portfolio of common services of the National Health System.
The Association therefore welcomes the fact that regions such as Aragón are promoting the expansion of screening. Thanks to the appearance and rise, in recent years, of new advances in analytical techniques and tools, which allow a more effective and early detection of a greater number of pathologies, many Autonomous Communities have considered that an update should be made in the field of preventive health by including new pathologies that are susceptible to being screened by means of their respective Neonatal Screening Programs.
AELMHU also considers it positive that this order incorporates four more endocrine-metabolic diseases into the newborn screening program in Aragon: biotinidase deficiency, maple syrup urine disease, homocystinuria and congenital adrenal hyperplasia; as well as the inclusion of the newborn screening program for congenital heart disease in the common portfolio of public health services.
After analyzing the context of the public consultation to which the Order of the Minister of Health amending the Order of July 13, 2007, of the Department of Health and Consumer Affairs, which regulates Neonatal Screening in the Autonomous Community of Aragon, AELMHU provides below some recommendations:
- To continue with the inclusion of the greatest possible number of RRD in the neonatal screening program as a common tool for early and accessible detection, prioritizing the incorporation of all those pathologies that have a safe, effective and cost-effective screening technique and have a therapeutic solution authorized and marketed in the EU.
- Promote progress in the preparation of an annual technical report on the evaluation of the screening program to be made available to the public and the administrations on their web page as soon as possible.
- To shorten and reduce the time required to update the common services portfolio.
- Ensure rapid and equitable access to disease diagnosis. In this sense, it is essential to reinforce coordination between health care levels (Primary Care - Hospital) for the detection and follow-up of these patients with rare diseases as early as possible.
- Promote public-private collaboration in research and development of analytical techniques and tools, since early detection is a fundamental and determining factor, both for the approach and progression of diseases, and for the quality of life of patients and their family, social and work environment.
Consult the complete text sent to the Autonomous Community
