An Assessment of Traditional and Genomic Screening in Newborns and their Applicability for Africa

Abstract

Background: Traditional methods have been used in diagnosing and treating infants for different congenital disorders in newborn screening (NBS) programs globally, but they are limited to screening for one condition at a time. Next Generation Sequencing provides an opportunity for expanding these programs to include more definitive tests for additional conditions that manifest both in early childhood and late adult-onset stages but these techniques have only been successfully implemented in non-African settings. Method: In this study, we did a comprehensive literature review of free-text PubMed articles and assessed the applicability of traditional and genomic newborn screening in Africa. A total of 8,135 articles were retrieved from the literature search. Data mining was done to capture information on; existing NBS programs, screening method and technique utilized, the number of babies screened, and conditions screened for. Results: 423 of the retrieved articles involved genomic newborn screening and three of these were from Africa. South Africa was the first country to document genomic newborn screening. Congenital hypothyroidism was the condition most screened for in most parts of the world, whereas hemoglobinopathies and glucose-6-dehydrogenase deficiency were prioritized in Asia, Sub-Saharan Africa and some parts of India. Conclusion: Our study provides key insights on the current status of traditional and genomic screening in newborns in developed and under-resourced settings, particularly in Africa. It also highlights the current challenges and future opportunities for newborn screening globally.

Keywords

• Africa
• Sequencing
• Newborn Screening
• Genomics
• Tandem Mass Spectrometry