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

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...

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Autores principales:	Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Bosco Oliveira, Joao, Rico Restrepo, Mariana, Rozenfeld, Paula Adriana, Zarante, Ignacio, Gonzaga Jauregui, Claudia
Formato:	Articulo
Lenguaje:	Inglés
Publicado:	2022
Materias:	Ciencias Médicas newborn screening early diagnosis rare diseases diagnostic odyssey Latin America genetics genomics molecular diagnosis
Acceso en línea:	http://sedici.unlp.edu.ar/handle/10915/156917
Aporte de:	SEDICI (UNLP) de Universidad Nacional de La Plata

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spelling	I19-R120-10915-1569172023-08-26T04:06:59Z http://sedici.unlp.edu.ar/handle/10915/156917 Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America Giugliani, Roberto Castillo Taucher, Silvia Hafez, Sylvia Bosco Oliveira, Joao Rico Restrepo, Mariana Rozenfeld, Paula Adriana Zarante, Ignacio Gonzaga Jauregui, Claudia 2022 2023-08-25T17:00:27Z en Ciencias Médicas newborn screening early diagnosis rare diseases diagnostic odyssey Latin America genetics genomics molecular diagnosis 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 Articulo Articulo http://creativecommons.org/licenses/by/4.0/ Creative Commons Attribution 4.0 International (CC BY 4.0) application/pdf
institution	Universidad Nacional de La Plata
institution_str	I-19
repository_str	R-120
collection	SEDICI (UNLP)
language	Inglés
topic	Ciencias Médicas newborn screening early diagnosis rare diseases diagnostic odyssey Latin America genetics genomics molecular diagnosis
spellingShingle	Ciencias Médicas newborn screening early diagnosis rare diseases diagnostic odyssey Latin America genetics genomics molecular diagnosis Giugliani, Roberto Castillo Taucher, Silvia Hafez, Sylvia Bosco Oliveira, Joao Rico Restrepo, Mariana Rozenfeld, Paula Adriana Zarante, Ignacio Gonzaga Jauregui, Claudia Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
topic_facet	Ciencias Médicas newborn screening early diagnosis rare diseases diagnostic odyssey Latin America genetics genomics molecular diagnosis
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.
format	Articulo Articulo
author	Giugliani, Roberto Castillo Taucher, Silvia Hafez, Sylvia Bosco Oliveira, Joao Rico Restrepo, Mariana Rozenfeld, Paula Adriana Zarante, Ignacio Gonzaga Jauregui, Claudia
author_facet	Giugliani, Roberto Castillo Taucher, Silvia Hafez, Sylvia Bosco Oliveira, Joao Rico Restrepo, Mariana Rozenfeld, Paula Adriana Zarante, Ignacio Gonzaga Jauregui, Claudia
author_sort	Giugliani, Roberto
title	Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America
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
publishDate	2022
url	http://sedici.unlp.edu.ar/handle/10915/156917
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Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

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