Dataciencia

Colección SciELO Chile

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

Indexado

WoS	WOS:000898228100001
Scopus	SCOPUS_ID:85144576004

DOI

10.3389/FGENE.2022.1053559

Año

2022

Tipo

revisión

Citas Totales

Autores Afiliación Chile

Instituciones Chile

% Participación
Internacional

Autores
Afiliación Extranjera

Instituciones
Extranjeras

Abstract

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.

Revista

Revista	ISSN
Frontiers In Genetics	1664-8021

Métricas Externas

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Disciplinas de Investigación

WOS
Genetics & Heredity

Scopus
Genetics
Genetics (Clinical)
Molecular Medicine

SciELO
Sin Disciplinas

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Publicaciones WoS (Ediciones: ISSHP, ISTP, AHCI, SSCI, SCI), Scopus, SciELO Chile.

Colaboración Institucional

Muestra la distribución de colaboración, tanto nacional como extranjera, generada en esta publicación.

Autores - Afiliación

Ord.	Autor	Género	Institución - País
1	Giugliani, Roberto	Hombre	DASA - Brasil Casa Raros - Brasil Hospital de Clínicas de Porto Alegre - Brasil
2	Castillo Taucher, Silvia	Mujer	Hosp Clin Univ Chile - Chile Hospital Clínico Universidad de Chile - Chile
3	Hafez, Sylvia	Mujer	NOA Project - Panamá The NOA Project - Panamá
4	Oliveira, Joao Bosco	-	Hosp Israelita Albert Einstein - Brasil Hospital Israelita Albert Einstein - Brasil
5	Rico-Restrepo, Mariana	Mujer	Amer Hlth Fdn - Colombia Americas Health Foundation - Colombia
6	Rozenfeld, Paula	Mujer	Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET) - Argentina Comision de Investigaciones Cientificas - La Plata - Argentina
7	Zarante, Ignacio	Hombre	Pontificia Univ Javeriana - Colombia Pontificia Universidad Javeriana - Colombia
8	Gonzaga-Jauregui, Claudia	Mujer	Univ Nacl Autonoma Mexico - México UNAM campus Juriquilla - México

Muestra la afiliación y género (detectado) para los co-autores de la publicación.

Financiamiento

Fuente
Chan Zuckerberg Initiative
unrestricted grant from the Chan Zuckerberg Initiative
Enfermedades Raras en el Caribe y America Latina (ERCAL)
Enfermedades Raras en el Caribe y America Latina
ERCAL

Muestra la fuente de financiamiento declarada en la publicación.

Agradecimientos

Agradecimiento
This work was funded by an unrestricted grant from the Chan Zuckerberg Initiative to the AHF and its partner initiative Enfermedades Raras en el Caribe y America Latina (ERCAL).
Pilot programs are usually necessary to provide initial data for public policy development. These projects may be funded by private organizations, non-governmental organizations, or other funding sources. However, NBS programs require support from the nation’s Ministry of Health (MoH) to guarantee long-term viability. This may require participation as part of a national initiative, funded by and with full participation of government health authorities. There are other funding models in which patients may pay part or all the cost of ENBS out-of-pocket. Still, these models may impose an extra burden on disadvantaged populations and thereby increase health disparities (). Thus, program leaders must carefully develop appropriate costing data and financial planning from the outset. Industry-sponsored diagnosis programs may be helpful, and some are already in place to provide access to confirmatory testing after a positive NBS result or if a RD is suspected. These programs are also used to identify patients for clinical trials and/or provide treatment options and market research for RD-approved drugs. However, to be sustainable at the national level, NBS and early diagnostic strategies must successfully intersect with public healthcare (). Partnerships within the RD ecosystem among POs, research centers, pharmaceutical companies, and governments at the local and international levels are crucial.

Agradecimiento

This work was funded by an unrestricted grant from the Chan Zuckerberg Initiative to the AHF and its partner initiative Enfermedades Raras en el Caribe y America Latina (ERCAL).

Pilot programs are usually necessary to provide initial data for public policy development. These projects may be funded by private organizations, non-governmental organizations, or other funding sources. However, NBS programs require support from the nation’s Ministry of Health (MoH) to guarantee long-term viability. This may require participation as part of a national initiative, funded by and with full participation of government health authorities. There are other funding models in which patients may pay part or all the cost of ENBS out-of-pocket. Still, these models may impose an extra burden on disadvantaged populations and thereby increase health disparities (). Thus, program leaders must carefully develop appropriate costing data and financial planning from the outset. Industry-sponsored diagnosis programs may be helpful, and some are already in place to provide access to confirmatory testing after a positive NBS result or if a RD is suspected. These programs are also used to identify patients for clinical trials and/or provide treatment options and market research for RD-approved drugs. However, to be sustainable at the national level, NBS and early diagnostic strategies must successfully intersect with public healthcare (). Partnerships within the RD ecosystem among POs, research centers, pharmaceutical companies, and governments at the local and international levels are crucial.