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RCH PHGKB

Specific PHGKB|Reproductive and Child Health PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Effective August 1, 2024, this database was discontinued. All content will remain searchable and be preserved online for historical purposes only until 2029.

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Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

From the abstract: "What is the parental acceptance, feasibility, and screen-positive rate of targeted genome screening in newborns of different racial and ethnic groups? In this study of 4000 newborns, 72.0% of approached families consented to participate. Genome sequencing was successfully completed for 99.6% of participants. The screen-positive rate in a predefined gene panel was 3.7%. Targeted analysis of a predefined set of genes from genome sequencing for screening in a diverse newborn population is feasible and could expand the scope of newborn screening. "

The Path to Genomic Screening—Far From Simple, but the Journey Has Begun

From the article: "Today’s genomic technology introduces a multitude of assays that could be deployed in health care: diagnostic testing of patients with suspected monogenic conditions, polygenic risk prediction for common diseases, pharmacogenomic analysis for drug-gene interactions, analysis of tumors for targetable somatic sequence variations, and noninvasive screening for prenatal chromosomal disorders or occult cancer. Alongside these approaches we must also grapple with screening of the ostensibly healthy population for monogenic diseases of newborns, children, and adults with either targeted or genome-scale sequencing. "

Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?

From the abstract: "This systematic review revealed a set of general limitations of the WJ criteria, such as imprecise terminology, lack of measurability and objectivity, missing pediatric focus, and absent guidance on program management. Furthermore, it unraveled specific aspects of criticism on clinical, diagnostic, therapeutic, and economical aspects. A major obstacle was found to be the incompletely understood natural history and phenotypic diversity of rare diseases prior to NBS implementation, resulting in uncertainty about case definition, risk stratification, and indications for treatment. This gap could be closed through the systematic collection and evaluation of real-world evidence on the quality, safety, and (cost-)effectiveness of NBS, as well as the long-term benefits experienced by screened individuals. "

Every baby deserves access to genetic screening

From the article: "Nation-wide genetic screening, available to all newborns, could in principle also be a tool to narrow the disparities that exist in today’s healthcare systems, providing to every family information about their baby’s health, regardless of socioeconomic and geographical factors. Designing genomics-based newborn screening programs that bring benefit equitably to the population is, however, an extremely complex task, also given the costs, and there is an urgent need to generate robust evidence on the potential benefits and harms of the approach, at the population level, before it can be implemented more widely. "


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About RCH PHGKB

Reproductive and Child Health PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to reproductive and child Health...more

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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.

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