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Last Posted: Sep 21, 2023
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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.

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.