Spain expands neonatal tests to detect diseases from 7 to 11

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Pedro Sánchez has announced that neonatal screening will be expanded throughout the country and will go from detecting seven diseases to 11 with the aim of improving the health system and offering equal conditions to all communities.

The President of the Government Pedro Sánchez has announced during a visit to Oviedo that the number of pathologies identifiable through neonatal screening will increase, from seven to 11. This procedure, commonly known as the ‘heel test’, was described by Sánchez as an “effective tool” that not only reduces the suffering of families, but also constitutes economic savings for both them and the health system.

Sánchez’s statement came after his tour of the facilities of the Central University Hospital of Asturias (HUCA), including its neonatal screening laboratory. He has anticipated that the Council of Ministers will take initial measures to expand the services offered by the National Health System in relation to neonatal screening, increasing the number of traceable diseases in newborn babies, so that it will cover tests for up to 11 pathologies. , although the objective – the president has said – is “to double that number between now and the first quarter of 2025.”

The president has not specified which new tests will be included in the screening, although health sources have informed the newspaper El País that they are biotinidase deficiency, urine disease with the smell of maple syrup, homocystinuria and congenital adrenal hyperplasia. .

This measure seeks to ensure that the population of all autonomous communities has equal access to these procedures, since, according to Sánchez, in some of them up to 30 diseases are currently examined. The medium-term objective is to double the number of pathologies that can be identified through these programs, which will allow early diagnosis and treatment of congenital conditions, thus reducing suffering and costs for families and authorities.

Rare diseases that usually manifest in childhood

To date, neonatal screening has been carried out throughout the national territory to detect seven rare diseases, although the scope varies significantly between regions, reaching up to 40 in some of them. These diseases usually manifest during childhood, so screening is crucial, as it allows early treatment that reduces morbidity, mortality and disabilities associated with these diseases.

The seven pathologies that are currently part of the neonatal screening program for endocrine-metabolic diseases of the common portfolio of healthcare services of the National Health System and are offered to all newborns in Spain are:

  • Congenital hypothyroidism
  • Phenylketonuria
  • Cystic fibrosis
  • Medium-chain acyl-coenzyme A-eshydrogenase deficiency (MCADD)
  • Long-chain 3-hydroxy-acyl-coenzyme A-dehydrogenase deficiency (LCHADD)
  • Glutaric acidemia type I (GA-I)
  • sickle cell anemia

Sánchez has also pointed out that there are currently inequalities in the coverage of neonatal screening in Spain and has compared it unfavorably with the rest of Europe: “the portfolio we inherited only covers tests for seven diseases, which places us at the bottom of Europe. Furthermore, it means that in our country there are great inequalities in access, because while some Autonomous Communities limit themselves to detecting these seven diseases in the common portfolio, others detect more than thirty.”

In the coming weeks we will increase the portfolio of detectable diseases from seven to eleven. And the Council of Ministers will examine the steps necessary to double that number between now and the first quarter of next year

“We are going to correct this problem. In the coming weeks we will increase the portfolio of detectable diseases from seven to eleven. And, tomorrow, the Council of Ministers will examine the steps necessary to double that number between now and the first quarter of next year. The objective is to improve the well-being of our population and make the system more sustainable. And also homogenize this benefit throughout the country, so that the health of Spaniards does not depend on their zip code or their income. Our national health system is the jewel of the welfare state,” added the president, who has highlighted the importance of prevention from the early stages and has underlined the value of public health as one of the pillars most valued and defended by its government.

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