Navarre, Asturias and Castilla La Mancha are the only CCAA of Spain that do not perform screening for cystic fibrosis

April 25, national day of Cystic Fibrosis

• to the previous autonomous communities, we must add the autonomous city of Ceuta.

• This situation implies a lack of equity in the national health system.

• Cystic fibrosis causes premature death, but early diagnosis by screening, enables early treatment, which improves the symptoms and lengthens the life expectancy of patients.

• New methods of screening and genetic diagnosis are allowing the early identification of the disease by one-tenth of the cost of conventional techniques.

Madrid, may 2012.- On April 25 was held in all Spain the national day of Cystic Fibrosis, a date which points out the need to continue efforts in research, screening and treatment of about 10,000 persons suffering from this disease in Spain according in the calendar has denounced the Spanish Federation of Cystic Fibrosisonly the autonomous communities of Navarre, Asturias and Castilla – La Mancha as well as Ceuta, still do not establish a public program of neonatal screening for cystic fibrosis.

This lack of equity in the national health system causes that, depending on the autonomous community in which is born a child with cystic fibrosis in Spain, the beginning of the treatment and their life expectancy, may be higher or lower. The reason for this circumstance explains her doctor José Luis Castrillo, scientific head of the Higher Council of scientific research (CSIC) and Co-Director of the laboratory of Genetadi genetic diagnosis, indicating that the newborn baby, on many occasions, although it suffers from the disease, may not show obvious symptoms, by which, in the absence of a screening programme, the pathology progresses in a silent way for years ”.

Thus, this degenerative disease that causes premature death, will worsen their symptoms, affecting mainly the lungs and the digestive system. However, having a diagnosis early definitive enables early treatment, which improves symptoms, quality of life and, above all, increases their life expectancy. In addition, the lack of screening causes that parents become many years without knowing what is what really happens to his son ”.

The Spanish Federation of Cystic Fibrosis has also indicated on the occasion of the celebration of the national day of this disease that in the first quarter of 2012 joined Cantabria and Valencia the list of autonomous communities that do incorporate neonatal screening for cystic fibrosis in its portfolio of services.

The Federation has stressed that it is essential that this newborn screening from becoming implanted in all Spain and that there are no differences territorial, referring to cases of Navarre, Asturias, Castile – La Mancha, Spain and Ceuta, which have not implemented.

The Spanish Federation of Cystic Fibrosis and associations that form believe that the exit from the crisis cannot be realized endangering progress achieved in the field of health and research in recent years, and reject the cuts that are likely to impair the quality of life of people affected by this pathology.

New techniques in diagnosis of cystic fibrosis

As explained to the scientist and director of the specialized laboratory Genetadi, up to now, the costs and complexity of systems of neonatal screening for cystic fibrosis have been the main causes of its neonatal screening will not be possible in all the autonomous communities. This, coupled with the ill child has complex symptoms, causes misdiagnosis, inappropriate treatment, and that often these children are detected late in the consultations of Paediatrics ”.

The researcher said, also, that new genetic techniques of analysis of the DNA of the newborn child perform screening and neonatal confirming diagnosis of this pathology in a way much faster than conventional techniques. These tests have been conducted on a sample of blood, but also they may be performed on a sample of saliva or buccal epithelium of the baby, and the confirming diagnosis obtained in 15 days, with three months of conventional techniques ”.

About cystic fibrosis

Cystic fibrosis (CF) is the most common in Europe genetic disease. According to the Spanish Federation of Cystic Fibrosis affects about 10,000 people in Spain (one of every 5,000 births in our environment suffers this pathology). One of every 35 persons is also asymptomatic carrier of changes in their DNA that may be responsible for the appearance of this condition in the offspring.