Since 1979, the Region of Murcia has been carrying out the Neonatal Screening Program, the largest in Spain, which is offered to the population of the Community and the autonomous city of Melilla, with a high performance of detection and diagnosis of these alterations.
In this way, the Region is one of the autonomous communities at the forefront in the early detection of rare diseases, through the Neonatal Screening Program, which is carried out at the Center for Biochemistry and Clinical Genetics, located in the hospital complex. Virgin of Arrixaca. Currently, it detects a total of 44 rare diseases through the so-called 'heel test' in newborns.
This biochemistry center for the detection, diagnosis and prevention of genetic diseases constitutes the reference framework for the comprehensive care of genetic and rare diseases in the Region of Murcia.
Tandem mass spectrometry technology allows high performance detection of 39 diseases, of which 20 are primary diagnoses and 19 are identified by differential diagnosis of the former, which places the Region at the forefront of this type. testing at the national level.
The diagnostic strategy includes the detection of other diseases such as biotinidase deficiency, cystinuria, hemoglobinopathies, primary congenital hypothyroidism and cystic fibrosis.
The Regional Center for Biochemistry and Clinical Genetics, dependent on the Murcian Health Service (SMS), attended to a total of 11,715 requests for different genetic and genomic analyzes in 2022, corresponding to 9,861 patients. Every year there is an increase in requests due to greater knowledge of genetic and rare diseases and the incorporation of new genomic diagnosis methods that expand their usefulness for the clinic.
The Center also develops the Neonatal Screening Program, known as the 'heel test', for the early detection of certain congenital endocrine and metabolic errors. With the early diagnosis of these diseases, health intervention in advance of their onset is possible. In this way, neurological damage in babies is avoided, morbidity and mortality in the child population and possible associated disabilities are reduced. In 2022, it received 14,261 samples for this study.
The PP sees Sánchez's neonatal screening as “insufficient” and encourages him to copy La Arrixaca
The announcement by the President of the National Government, Pedro Sánchez, that the Ministry of Health will expand detection in newborn screening to detect eleven congenital diseases instead of the current seven, was received with criticism from the Popular Party, which He recalled that in some communities governed by this party, including the Murcia Region, which he gave as an example to follow, they already have more ambitious programs.
The PP Deputy Secretary of Health and Education, Ester Muñoz, thanked Sánchez for “copying” the popular proposal to expand testing, although she called the announcement “insufficient.” In addition, he asked the president that, if he does it, “do it well”, since the PP intends, according to Muñoz, to “equalize upwards” all communities, until reaching the level of detection currently available to the Murcian Service. of Health, where up to 44 genetic and rare diseases have already been identified.
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