[Genomic newborn screening. Perspective from the Ethics commission of the Spanish Society for Human Genetics. Part I. Next generation sequencing technologies applied to newborn screening. Challenges and opportunities.]

Autor: Pàmpols Ros T; Sección de errores congénitos del metabolismo-IBC. Servicio de Bioquímica y Genética Molecular. Hospital Clínico de Barcelona. Barcelona. España.; Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España., Pérez Aytés A; Grupo de Investigación en Perinatología. Instituto de Investigación Sanitaria. Hospital La Fe. Valencia. España.; Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España., García Sagredo JM; Facultad de Medicina. Universidad de Alcalá. Alcalá de Henares (Madrid). España.; Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España., Díaz de Bustamante A; Unidad de Genética. Hospital Universitario de Móstoles. Móstoles (Madrid). España.; Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España., Blanco Guillermo I; Hospital Universitario Germans Trias i Pujol. Badalona (Barcelona). España.; Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España.
Jazyk: Spanish; Castilian
Zdroj: Revista espanola de salud publica [Rev Esp Salud Publica] 2022 Feb 04; Vol. 96. Date of Electronic Publication: 2022 Feb 04.
Abstrakt: 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.
Databáze: MEDLINE