Posted: Sep 21, 2023
Unequal global implementation of genomic newborn screening.
Ahmad N Abou Tayoun et al. Nat Rev Genet 2023 9
From the abstract: "Studies of genomic newborn screening are highly skewed towards populations in high-income countries. The evidence generated by these studies will be similarly biased and is likely to lead to disparate global implementation. Studies inclusive of historically under-represented populations are needed for equitable global access to genomic newborn screening. "
Genome Sequencing for Newborn Screening—An Effective Approach for Tackling Rare Diseases
S Jiang et al. JAMA Network Open, September 2023
From the paper: "Newborn screening is a crucial global public health initiative, with a primary aim to identify congenital disorders that could lead to significant morbidity and mortality if left untreated. However, the scope of traditional newborn screening methods is limited, detecting only a finite number of conditions. With the advent of next-generation genome sequencing technologies, gene panel sequencing as a first-tier newborn screening test is a promising strategy, potentially enabling comprehensive and accurate diagnosis of a broad spectrum of genetic conditions at birth."
Newborn sequencing is only part of the solution for better child health.
Luca Brunelli et al. Lancet Reg Health Am 2023 9 100581
From the abstract: "Our analysis of more than 130 million births in the United States between 1959 and 1995 shows that traditional NBS led to improvements in infant mortality and health equity only when it was implemented in association with measures to improve healthcare access for children. We suggest that the new genomic NBS will lead to better child health only when the same degree of attention devoted to genomic technologies will be directed to the promotion of public health measures that facilitate access to high-quality healthcare for all children."
Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project
F Niri et al, IJNS, July 27, 2023
Spinal muscular atrophy (SMA) is a progressive neuromuscular disease caused by biallelic pathogenic/likely pathogenic variants of the survival motor neuron 1 (SMN1) gene. Early diagnosis via newborn screening (NBS) and pre-symptomatic treatment are essential to optimize health outcomes for affected individuals. We developed a multiplex quantitative polymerase chain reaction (qPCR) assay using dried blood spot (DBS) samples for the detection of homozygous absence of exon 7 of the SMN1 gene.