a new genetic test private for the early diagnosis of cystic fibrosis are using it to make up for the lack of a public screening of this disease in 6 CCAA.
is a situation that seriously threatens the equity, one of the pillars of the national system of health
-Asturias, Cantabria, Navarra, La Rioja, Castile – La Mancha, Valencia and Ceuta does not have a system of screening for cystic fibrosis that do have been implemented in the rest of the autonomous communities.
-cystic fibrosis causes premature death, but a diagnosis early enables early treatment, which improves the symptoms and quality of life of patients
-the lack of screening — and, therefore, early diagnosis — of this disease is that families of children with cystic fibrosis can be even more than ten years without knowing what happens to them and without adequate treatment.
– new methods of screening and genetic diagnosis, are enabling the early identification of the disease by one-tenth of the cost of the conventional. technical
Madrid, June 2011.- cystic fibrosis (CF) is more common in Europe genetic disease. One in 30 people is asymptomatic carrier of changes in their DNA that may be responsible for the emergence of this disease and it is estimated according to the Spanish Federation of Cystic Fibrosis, that its impact on Spain is a case per 3,500 live births. However, despite the fact that the Spanish legal system establishes equity in the exercise of the right to health, yet there are six autonomous communities (Asturias, Cantabria, Navarra, La Rioja, Castile – La Mancha and Valencia) and an autonomous city (Ceuta) that do not have prenatal screening of this disease in its health public.
faced with this situation, the family and pediatricians in these regions are opting to fill this gap in the equity of the previous public health systems, with a new genetic technique of analysis of the DNA of the newborn child, thanks to the fact that there are 10 times lower than conventional techniques cost. The test, known as Neonatal One Plus has been developed by the Spanish company Genetadi Biotech and only requires a sample of saliva for the obtaining of the diagnosis, carried out in 15 days, with the three months of the conventional. technical
the absence of a neonatal screening for cystic fibrosis represents each child born with this disease in the autonomous communities without screening programmes to overcome on average, more than ten years without an accurate diagnosis; Nevertheless, in contrast to the neighbouring autonomous regionschildren with cystic fibrosis are diagnosed early and have an effective treatment from his birth.
in the absence of a proper diagnosis, this degenerative disease that causes premature death, will worsen their symptoms, affecting mainly the lungs and the digestive system. Have a diagnosis early, however, allow early treatment, which improves symptoms and quality of life of patients (most of them children) and increases his hope and quality of life.
as has explained the head of the new genetic technique in screening neonatal CF, Dr. José Luis Castrillo, Co-Director of Genetadi Biotech, and scientific head of the Higher Council for scientific research (CSIC), up to now, the costs and complexity of neonatal CF screening systems have led to its screening is not possible in all the autonomous communities. This, coupled with the sick child presents a complex symptoms, causes misdiagnosis, inappropriate treatment, and that often these children are detected late in the consultations of Paediatrics ”.
the Co-Director of the Genetadi Biotech company has stated, also, that they are receiving samples for neonatal screening for cystic fibrosis of pediatricians and clinics in various autonomous communities do not have this disease newborn screening programmes ”. Also pointed out that other communities that do have such programmes, are also receiving requests for screening, both for reasons of cost and time, as there are families who are not willing to wait three months to confirm whether his newborn son has a genetic disease that requires urgent treatment ”.
as explained by the expert, current screening methods start with a first biochemical test, which presents a high percentage of false positive. When there is a possible positive, carried out new evidence through genetic engineering, whose results it takes between two to three months, and that the vast majority of cases, they deny the first result ”.
in this way, the patient and their family live for months with anguish, awaiting the result confirming ”. Genetadi has removed the biochemical initial test of the process and has developed a new genetic analysis directly — the Plus One Neonatal —, reducing costs and time. This test is in addition to the screening of neonatal metabolic diseases Neonatal-One ” makes Genetadi and that it has been recommended by the Spanish society of errors inborn in metabolism.
