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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Published inFrontiers in genetics Vol. 13; p. 1053559
Main Authors Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Oliveira, Joao Bosco, Rico-Restrepo, Mariana, Rozenfeld, Paula, Zarante, Ignacio, Gonzaga-Jauregui, Claudia
Format Journal Article
LanguageEnglish
Published Switzerland Frontiers Media S.A 08.12.2022
Subjects
diagnostic odyssey
early diagnosis
Genetics
Latin America
newborn screening
rare diseases
early diagnosis
rare diseases
genetics
genomics
diagnostic odyssey
newborn screening
Latin America
molecular diagnosis
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Summary: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.
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Reviewed by: Brad Therrell, The University of Texas Health Science Center at San Antonio, United States
These authors have contributed equally to this work and share senior authorship
Amy Brower, American College of Medical Genetics and Genomics (ACMG), United States
This article was submitted to Genetics of Common and Rare Diseases, a section of the journal Frontiers in Genetics
Edited by: Gavin R. Oliver, Mayo Clinic, United States
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2022.1053559