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El papel emergente de la secuenciación del genoma en el cribado de recién nacidos
Bimal P Chaudhari1, William Burns2, Emily Messick3
1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital; Division of Neonatology, Nationwide Children's Hospital; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
Clinics in perinatology
|August 24, 2025
Resumen
La detección de recién nacidos (NBS, por sus siglas en inglés) identifica problemas de salud infantil temprano. Se está investigando la secuenciación del genoma (GS) para NBS (gNBS) para mejorar la detección y el tratamiento tempranos, reduciendo la carga de la enfermedad.
Área de la Ciencia:
- La genética
- Pediatría
- Salud pública
Sus antecedentes:
- La detección de recién nacidos (NBS) es un programa vital de salud pública.
- El NBS detecta trastornos genéticos y otros en los bebés antes de que aparezcan los síntomas.
- La detección temprana a través de NBS permite el tratamiento oportuno, reduciendo la morbilidad y la mortalidad.
Objetivo del estudio:
- Explorar el potencial de la secuenciación del genoma (GS) como complemento de las NBS tradicionales.
- Evaluar la integración de la secuenciación del genoma para el cribado de recién nacidos (gNBS) en las prácticas sanitarias actuales.
Principales métodos:
- Los estudios de investigación en curso están investigando el uso de GS en NBS.
- Se están llevando a cabo análisis comparativos de gNBS y NBS tradicionales.
Principales resultados:
- gNBS es prometedor para ampliar el alcance de las condiciones detectables.
- Se están recopilando pruebas sobre la eficacia y la viabilidad de la aplicación de gNBS.
Conclusiones:
- gNBS representa un avance potencial en el cribado de recién nacidos.
- La investigación adicional es crucial para establecer el papel óptimo del gNBS junto con el NBS tradicional.
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