Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
Latin America
diagnostic odyssey
early diagnosis
genetics
genomics
molecular diagnosis
newborn screening
rare diseases
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
25
09
2022
accepted:
18
11
2022
entrez:
26
12
2022
pubmed:
27
12
2022
medline:
27
12
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36568372
doi: 10.3389/fgene.2022.1053559
pii: 1053559
pmc: PMC9773081
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
1053559Informations de copyright
Copyright © 2022 Giugliani, Castillo Taucher, Hafez, Oliveira, Rico-Restrepo, Rozenfeld, Zarante and Gonzaga-Jauregui.
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