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Last Posted: Mar 23, 2023
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Newborn genome screening in the USA: early steps on a challenging path
B Furlough, Lancet Child & Adol Health, , April 2023

As of March, 2023, the Genomic Uniform-screening Against Rare Diseases In All Newborns (GUARDIAN) study at Columbia University and New York-Presbyterian hospitals in New York, NY, USA, has enrolled more than 1000 of a planned 100?000 babies who will undergo whole-genome sequencing over the next 4 years to detect gene variants associated with 158 rare diseases. It will be the largest US study to date of genome sequencing at birth to detect rare genetic diseases.

Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?
S White et al, EJHG, March 20, 2023

The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026.

Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
G La Marca et al, IJNS, March 2023

Future developments, utilizing genomic techniques, are likely to play an increasingly important role in newborn screening, possibly combined with artificial intelligence (AI)-driven software. We will consider the balance required to harness the potential of these new advances whilst maintaining the benefits and reducing the risks for harm associated with all screening.

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.

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.