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Last Posted: Sep 29, 2023
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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."

Implications of Genomic Newborn Screening for Infant Mortality
MH Wojick et al, IJNS, March 2023

Current diagnostic genetic workflows are designed to initiate genetic testing after an infant develops disease symptoms, at which time therapies may not be clinically useful. There is increasing interest and an international effort to incorporate genome-wide sequencing into newborn screening approaches, though ethical considerations and other implementation concerns remain unresolved. Here, we comment on the implications of this approach for infant mortality reduction.

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
Mallory J Owen et al. JAMA network open 2023 2 (2) e2254069

What proportion of infant mortality is explained by genetic diseases? In this cohort study of 112 infant deaths, single-locus genetic diseases were the most common antecedent of infant mortality (41%). Treatments positively associated with outcomes were available for 30% of these genetic diseases. The study results suggest that because treatable genetic diseases are associated with considerable infant mortality, strategies for neonatal diagnosis may be associated with decreased infant mortality.

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.