Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Autores
Giugliani, Roberto; Castillo Taucher, Silvia; Hafez, Sylvia; Bosco Oliveira, Joao; Rico Restrepo, Mariana; Rozenfeld, Paula Adriana; Zarante, Ignacio; Gonzaga Jauregui, Claudia
Año de publicación
2022
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.
Instituto de Estudios Inmunológicos y Fisiopatológicos
Materia
Ciencias Médicas
newborn screening
early diagnosis
rare diseases
diagnostic odyssey
Latin America
genetics
genomics
molecular diagnosis
Nivel de accesibilidad
acceso abierto
Condiciones de uso
http://creativecommons.org/licenses/by/4.0/
Repositorio
SEDICI (UNLP)
Institución
Universidad Nacional de La Plata
OAI Identificador
oai:sedici.unlp.edu.ar:10915/156917
Acceder
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network_acronym_str SEDICI
repository_id_str 1329
network_name_str SEDICI (UNLP)
spelling Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin AmericaGiugliani, RobertoCastillo Taucher, SilviaHafez, SylviaBosco Oliveira, JoaoRico Restrepo, MarianaRozenfeld, Paula AdrianaZarante, IgnacioGonzaga Jauregui, ClaudiaCiencias Médicasnewborn screeningearly diagnosisrare diseasesdiagnostic odysseyLatin Americageneticsgenomicsmolecular diagnosisRare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.Instituto de Estudios Inmunológicos y Fisiopatológicos2022info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionArticulohttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfhttp://sedici.unlp.edu.ar/handle/10915/156917enginfo:eu-repo/semantics/altIdentifier/issn/1664-8021info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2022.1053559info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/4.0/Creative Commons Attribution 4.0 International (CC BY 4.0)reponame:SEDICI (UNLP)instname:Universidad Nacional de La Platainstacron:UNLP2025-10-15T11:32:38Zoai:sedici.unlp.edu.ar:10915/156917Institucionalhttp://sedici.unlp.edu.ar/Universidad públicaNo correspondehttp://sedici.unlp.edu.ar/oai/snrdalira@sedici.unlp.edu.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:13292025-10-15 11:32:38.403SEDICI (UNLP) - Universidad Nacional de La Platafalse
dc.title.none.fl_str_mv Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
title Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
spellingShingle Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
Giugliani, Roberto
Ciencias Médicas
newborn screening
early diagnosis
rare diseases
diagnostic odyssey
Latin America
genetics
genomics
molecular diagnosis
title_short Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
title_full Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
title_fullStr Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
title_full_unstemmed Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
title_sort Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
dc.creator.none.fl_str_mv Giugliani, Roberto
Castillo Taucher, Silvia
Hafez, Sylvia
Bosco Oliveira, Joao
Rico Restrepo, Mariana
Rozenfeld, Paula Adriana
Zarante, Ignacio
Gonzaga Jauregui, Claudia
author Giugliani, Roberto
author_facet Giugliani, Roberto
Castillo Taucher, Silvia
Hafez, Sylvia
Bosco Oliveira, Joao
Rico Restrepo, Mariana
Rozenfeld, Paula Adriana
Zarante, Ignacio
Gonzaga Jauregui, Claudia
author_role author
author2 Castillo Taucher, Silvia
Hafez, Sylvia
Bosco Oliveira, Joao
Rico Restrepo, Mariana
Rozenfeld, Paula Adriana
Zarante, Ignacio
Gonzaga Jauregui, Claudia
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Ciencias Médicas
newborn screening
early diagnosis
rare diseases
diagnostic odyssey
Latin America
genetics
genomics
molecular diagnosis
topic Ciencias Médicas
newborn screening
early diagnosis
rare diseases
diagnostic odyssey
Latin America
genetics
genomics
molecular diagnosis
dc.description.none.fl_txt_mv Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.
Instituto de Estudios Inmunológicos y Fisiopatológicos
description Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems, and society. These diagnostic delays have repercussions on the health and economic burden created by RDs and continue to represent an unmet medical need. This review analyzes barriers to the widespread adoption of newborn screening (NBS) programs and early diagnostic methods for RDs in Latin America and provides recommendations to achieve this critical objective. Increasing the adoption of NBS programs and promoting early diagnosis of RDs are the first steps to improving health outcomes for patients living with RDs. A coordinated, multistakeholder effort from leaders of patient organizations, government, industry, medical societies, academia, and healthcare services is required to increase the adoption of NBS programs. Patients’ best interests should remain the guiding principle for decisions regarding NBS implementation and early diagnosis for RDs.
publishDate 2022
dc.date.none.fl_str_mv 2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
Articulo
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://sedici.unlp.edu.ar/handle/10915/156917
url http://sedici.unlp.edu.ar/handle/10915/156917
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/issn/1664-8021
info:eu-repo/semantics/altIdentifier/doi/10.3389/fgene.2022.1053559
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
eu_rights_str_mv openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
Creative Commons Attribution 4.0 International (CC BY 4.0)
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:SEDICI (UNLP)
instname:Universidad Nacional de La Plata
instacron:UNLP
reponame_str SEDICI (UNLP)
collection SEDICI (UNLP)
instname_str Universidad Nacional de La Plata
instacron_str UNLP
institution UNLP
repository.name.fl_str_mv SEDICI (UNLP) - Universidad Nacional de La Plata
repository.mail.fl_str_mv alira@sedici.unlp.edu.ar
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