Cringenes: Madrid Pioneers Genomic Screening to Detect Rare Diseases in Newborns

This week, the Community of Madrid launched Cringenes, a pilot project for neonatal genomic screening that will allow for the early detection of more than 300 rare diseases in infants. This initiative establishes the region as a national leader in the prevention of genetic pathologies. The project, which will last 15 months, is expected to involve 300 newborns, an average of 20 per month.

Madrid Leads Pilot Genomic Screening to Detect Rare Diseases in Newborns

The samples are taken at the Gregorio Marañón Public Hospital, and families must sign a specific consent form for a second heel-prick blood test, in addition to the one currently being performed. This will be sent for further analysis to Ramón y Cajal, one of the three centers nationwide for genetic diagnosis of the 2,500 babies participating in the project.

The goal is to identify more than 300 rare pediatric diseases for which treatments or early interventions already exist, while also providing appropriate counseling to families. These include metachromatic leukodystrophy, immunodeficiencies, neurological, endocrine, and hematological disorders such as Falconi anemia, congenital heart disease, deafness, and hemophilia.

Cringenes not only includes diagnosis, but babies with any abnormality detected will be referred to the regional reference clinical unit, following the same procedures already implemented in the neonatal screening program coordinated by the General Directorate of Public Health in Madrid. If the results are normal, the family will receive an email informing them of this within 45 days, as well as a detailed report sent to their home.

A groundbreaking pilot project aims to screen 300 infants for over 300 treatable rare diseases, positioning Madrid at the forefront of genomic healthcare innovation

Cringenes represents a revolution in the early detection of rare diseases in newborns. With more than 7,000 diseases described, 80% of which are genetic in origin, it will also evaluate the viability and feasibility of incorporating genomics into the healthcare system within public health neonatal screening programs.

For decades, Madrid’s public health system has been implementing Neonatal Screening for endocrine-metabolic diseases (heel prick testing), a program aimed at the early diagnosis, treatment, and monitoring of 23 pathologies. It will soon be expanded with the addition of 12 new ones. The goal is to prevent or minimize injuries that could compromise the life or intellectual and physical development of newborns.

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(Featured image by Jorge Fernandez Salas via Unsplash)

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First published in diariofarma. A third-party contributor translated and adapted the article from the original. In case of discrepancy, the original will prevail.

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