“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, because in the second they do a more complete neonatal screening than in the first,” denounces the scientist Federico Mayor Zaragoza. This is happening today, to the anger of professionals and rare disease associations who have been fighting for years to achieve the extension of heel tests to all possible hereditary diseases and, furthermore, for them to be homogeneous throughout the territory.
In Spain there are communities with neonatal screening that detects 8 diseases and others with 40, all serious (see the attached map). This inequality is explained because 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 that figure it has been the will of the health authorities of each community.
Faced with this situation of inequality, 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 detection), reaching 18 by the end of this year and reach 23 in the first quarter of 2025. “The objective is to improve the well-being of our population, make the system more sustainable and homogenize this benefit throughout the country so that the health of Spaniards does not depend or of your zip code, nor of your income,” they explain from Health.
But why are there these differences between communities? Mayor Zaragoza explained it a few days ago at the Current Situation of Rare Diseases conference, organized by the Ramón Areces Foundation, the Red Biomedical Research Center for Rare Diseases (Ciberer) and the Spanish Federation of Rare Diseases (Feder): because there are Health advisors from the communities who are unaware of 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 the biochemistry professor José Antonio Lozano Teruel. And in the case of Catalonia, by Joan Sabater Tobella.
The most striking example of inequity occurs in the detection of severe combined immunodeficiency, known as bubble baby 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 into the neonatal screening program, and the only one until last month, when it was incorporated in Galicia and the Canary Islands. “We have been in the program for 7 years with excellent results, with more than 400,000 babies screened and an incidence of 1 case per 45,000 tests,” explains Pere Soler, head of the pediatric infectious pathology and immunodeficiency unit at Vall d’Hebron. only center for the treatment of bubble children in Catalonia. “The 9 cases detected have all been operated on and 8 of the patients are alive – the deceased is an exceptional case.” The survival rate exceeds 90%, much higher than the 42% when there was no screening,” he details.
Soler remembers that it was Minister Toni Comín who decided to include this test in the program after seeing the results in other countries. Lives are saved. Why have other communities turned their backs on him? “For a poorly understood economic issue,” the doctor reasons: “It has been scientifically proven to be effective, because it does not give false negatives and allows the patient to be treated very reliably. A different technique is required than most metabolic screening techniques, which requires purchasing technology and training professionals. But the health savings that occur are cost effective.”
According to experts, except for Cantabria, Asturias or 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 have left these diseases in a secondary panel because the marker is not so good and you do not want there to be false negatives,” explains Judit García, head of the inborn errors of metabolism section of the biochemistry and molecular genetics service at the Hospital Clínic. In this center, located on the Maternitat campus in Barcelona, ??blood samples from the heel of all children born in Catalonia are analyzed.
According to García, other communities include in the main panel diseases that in Catalonia are left to differential diagnosis. It is a matter of nomenclature, she affirms, and urges to standardize the denominations: “At the end of the day, the analytical technique of tandem mass spectography has allowed us 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, we will be able to see the reality.”
It is unknown if screening for severe combined immunodeficiency is included in the Government’s plan. In Pere Soler’s opinion, there are no excuses: “It is a moral imperative as a health system and as a society to apply a tool that allows us to save lives and recover the investment. In Spain, bubble children die because they do not have screening.”
