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Cribado neonatal genómico. Perspectiva de la Comisión de ética de la Asociación Española de Genética Humana. Parte I. Las tecnologías de secuenciación masiva (NGS) y su aplicación al cribado neonatal. Desafíos y oportunidades.

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Pàmpols Ros T
  • García Sagredo JM
  • Díaz de Bustamante A
  • Blanco Guillermo I

Abstract

In 2003 at the ending of the Human Genome Project, it aroused the idea that all newborns could be sequenced and its genome archived in the clinical record, in order to manage risks of diseases and response to medicaments along his whole life. Eighteen years later, promises of genomic medicine and tremendous decrease of costs of next generation sequencing technologies, continues feeding this dream that shows important practical, ethical and social challenges and genomic sequencing is presented as the next historical change in newborn screening programs. In this paper we analyze challenges and opportunities of next generation sequencing technologies, their real costs, problems associated to management, storage and protection of the enormous amount of genomic data produced and finally, according to conclusions of recent researches, there are considered the conclusions in two contexts, sick newborn with diagnostic purposes and healthy asymptomatic newborns with public health purposes (newborn screening programs). In a second part of this article it will be considered ethical, legal and social issues (ELSI). Final objective is to contribute to scientific, professional, ethics and social debate in order to promote that genome sequencing in newborn don't be used indiscriminately constituting a risk, but properly done, as a partner in the promotion of health and prevention of consequences of genetic diseases.

Datos de la publicación

ISSN/ISSNe:
1135-5727, 2173-9110

REVISTA ESPANOLA DE SALUD PUBLICA  MINISTERIO DE SANIDAD Y CONSUMO

Tipo:
Article
Páginas:
-
DOI:
PubMed:
35115483
Factor de Impacto:
0,271 SCImago ℠
Cuartil:
Q3 SCImago ℠

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Keywords

  • Exome sequencing; Genetic screening; Genome sequencing; Genomic newborn screening; Genomic public health; Genomic screening; Newborn screening; Newborn sequencing; Next generation sequencing technologies; Public health; Spain

Proyectos y Estudios Clínicos

RED DE SALUD MATERNO-INFANTIL Y DEL DESARROLLO

RD08/0072/0022 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2008

RED DE SALUD MATERNO INFANTIL Y DEL DESARROLLO

Investigador Principal: MÁXIMO VENTO TORRES

RD12/0026/0012 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2013

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