Home » Expansion of Neonatal Screening Services by the SEQCML: A Step Towards Comprehensive Newborn Care

Expansion of Neonatal Screening Services by the SEQCML: A Step Towards Comprehensive Newborn Care

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Expansion of Neonatal Screening Services by the SEQCML: A Step Towards Comprehensive Newborn Care

The Spanish Society of Laboratory Medicine (SEQCML) has played a key role in the expansion of neonatal screening services within the National Health System, as announced by the President of the Government, Pedro Sánchez. The collaboration of the SEQCML in the Neonatal Screening Protocols Working Group of the Ministry of Health has been vital in reviewing documents and participating in meetings with representatives from various autonomous communities, scientific societies, and external experts.

This new measure by the Government increases the number of diseases to be detected in neonatal screening from seven to 11, with the goal of further doubling that number in the near future. Dr. Yolanda González Irazabal, President of the SEQCML Perinatal Diagnostic Commission, views this development as a significant step towards more comprehensive and preventive care for neonatal health.

Dr. José Luis Marín Soria, consulting member of the Neonatal Screening Group of the Association for the Study of Inborn Errors of Metabolism (AECOM) and SEQCML member, also praises the initiative. However, both Dr. González Irazabal and Dr. Marín Soria emphasize the importance of continuing to expand the screening programs to better cover a broader range of diseases.

The Perinatal Diagnostic Commission of the SEQCML has consistently offered its expertise to the Government in advising on neonatal screening programs. The Commission recently provided observations on the Draft Order modifying the portfolio of common services of the National Health System, which will include the expanded neonatal screening services.

Neonatal screening, commonly known as the heel test, is a crucial blood test aimed at diagnosing congenital metabolic diseases early to initiate timely treatment. The SEQCML member explained that the laboratory analyses samples from all newborns to detect various diseases included in the screening program.

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By detecting these diseases in their preclinical stages, the heel test allows for early treatment and prevention of potential complications. Dr. González Irazabal highlights the role of Laboratory Medicine experts in providing genetic counseling and monitoring patients’ metabolic situations.

Dr. Marín Soria acknowledges the advancements in genetics that have led to better and faster diagnoses of these diseases, as well as the emergence of genetic treatments. He also emphasizes the need for governments to address the ethical dilemma of allocating resources for these treatments.

In conclusion, both experts stress the importance of maintaining a focus on the main objective of neonatal screening programs – early disease diagnosis to improve the quality of life of patients. The dedication and collaboration of organizations like the SEQCML are essential in advancing neonatal health initiatives.

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