“It’s nonsense. It is not acceptable that a child born in Asturias has an irreversible disease and in Murcia it is detected, treated and cured, so that in this second they do a more complete neonatal screening than in the first”, denounces the scientist Federico Mayor Zaragoza This is happening today, in the face of the anger of professionals and associations of rare diseases who have been fighting for years to obtain the extension of heel tests to all possible hereditary diseases and, moreover, that they be homogeneous throughout the territory .
In Spain there are communities with neonatal screenings that detect 8 diseases and 40 others, all serious (see the attached map). This inequality is explained by the fact that the Ministry of Health includes only 7 diseases to be detected, when the baby is born, in the portfolio of services (mandatory throughout the territory), so from this number it has been the will of the health authorities to each community.
Faced with this situation of inequity, President Pedro Sánchez and the Minister of Health, Mónica García, announced the expansion of these screenings from 7 diseases to 11 in the coming weeks (4 metabolic disorders are added to the screening), reach 18 at the end of this year and reach 23 during the first quarter of 2025. “The objective is to improve the well-being of our population, make the system more sustainable and homogenize this provision throughout the country because the health of Spaniards does not depend on their postal code, nor on their income”, they explain from Sanitat. But why are there such differences between communities? Mayor Zaragoza explained this a few days ago at the Current Situation of Rare Diseases conference, organized by the Ramón Areces Foundation, the Center for Biomedical Research in the Rare Disease Network (Ciberer) and the Spanish Federation of Rare Diseases (Feder): because there are councilors of Health in the communities who do not know the subject.
And that this knowledge reaches politicians has a lot to do with the dedication and pressure of its scientists. Thus, explains Mayor Zaragoza, the fact that Murcia is one of the most advanced communities in this matter has to do with the constant work of biochemistry professor José Antonio Lozano Teruel. And in the case of Catalonia, Joan Sabater Tobella.
The most striking example of inequity is given in the detection of severe combined immunodeficiency, known as bubble children’s disease, due to a series of genetic disorders that affect the ability of the immune system to function properly. On January 1, 2017, Catalonia was the first community to introduce this pathology in the neonatal screening program, and the only one until last month, when Galicia and the Canary Islands joined. “We have had a program for seven years with excellent results, with more than 400,000 babies screened and an incidence of 1 case for every 45,000 tests”, explains Pere Soler, head of the pediatric infectious pathology and immunodeficiency unit at the Vall d ‘Hebron, the only center for the treatment of bubble children in Catalonia. “The 9 detected cases have all been operated on and 8 of the patients are alive – the death is an exceptional case -. The survival rate exceeds 90%, much higher than the 42% when there was no screening”, he explains.
Soler remembers that it was councilor Toni Comín who decided to include this test in the program after seeing the results in other countries. Lives are saved. Why have the other communities turned their backs on him? “For a misunderstood economic issue”, reasons the doctor: “It has been scientifically proven to be effective, because it does not give false negatives and allows the patient to be treated very reliably. It requires a different technique than most metabolic screening techniques, requiring the purchase of technology and the training of professionals. But the health savings that occur are cost effective”.
According to experts, except for Cantabria, Asturias and the Basque Country, which are at a lower level, the rest of the autonomies are more level than it seems. For example, in Catalonia 25 diseases are detected, but there are another 15 that have the same biological marker and are altered in the same way, so they would be included in a secondary panel and are detected through differential diagnosis in the hospital
“We left these diseases in a secondary panel because the marker is not that good and you don’t want there to be false negatives,” explains Judit García, head of the inborn errors of metabolism section of the biochemistry and molecular genetics service of the Clinic hospital. In this centre, located in the Maternity area, in Barcelona, ??blood samples from the heel of all children born in Catalonia are analysed.
According to García, other communities include in the main panel diseases that in Catalonia are subject to differential diagnosis. It’s a question of nomenclature, he says, and urges the standardization of names: “After all, the analytical technique of mass spectrography in tandem has made it possible to make the leap and all communities are capable of detecting the same thing. If we call it the same way and standardize a primary and secondary panel, you will be able to see the reality”.
It is not known whether screening for severe combined immunodeficiency is included in the Central Government plan. According to Pere Soler, there are no excuses: “It is a moral imperative as a healthcare system and as a society to apply a tool that allows us to save lives and recover investment. In Spain, bubbling children die because they don’t have screening”.
