Opportunities and Challenges for Newborn Screening and Early Diagnosis of Rare Diseases in Latin America

GIUGLIANI R; CASTILLO TAUCHER S; HAFEZ S; BOSCO OLIVEIRA J; RICO-RESTREPO M; ROZENFELD PA; ZARANTE´I; GONZAGA-JAUREGUI C

Frontiers in Genetics

Frontiers Media S.A

Año: 2022

Rare diseases (RDs) cause considerable death and disability in Latin America.Still, there is no consensus on their definition across the region. Patients withRDs face a diagnostic odyssey to find a correct diagnosis, which may last manyyears and creates a burden for caregivers, healthcare systems, and society.These diagnostic delays have repercussions on the health and economicburden 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 andprovides recommendations to achieve this critical objective. Increasing theadoption of NBS programs and promoting early diagnosis of RDs are the firststeps 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 toincrease the adoption of NBS programs. Patients’ best interests should remainthe guiding principle for decisions regarding NBS implementation and earlydiagnosis for RDs.