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Main|Home|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
CDC’s Public Health Genomics and Precision Health Knowledge Base (PHGKB) was discontinued effective August 1, 2024. The Tier-Classified Guidelines Database has been removed. All other PHGKB content will remain searchable and be preserved online for historical purposes only until 2029.

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. "

Screening Familial Risk for Hereditary Breast and Ovarian Cancer

From the abstract: "In a large health system, how many ungenotyped patients meet family history genetic testing criteria for hereditary breast and ovarian cancer? In this cross-sectional analysis, 2.9% of patients had no evidence of prior genetic testing but had electronic health records indicating they met family history criteria. These criteria were associated with significantly increased prevalence of genetic risk variants among 38?003 genotyped patients. These findings suggest that substantial gaps exist in identifying and testing patients meeting family history criteria for hereditary breast and ovarian cancer, and other methods may be needed to close these gaps. "

The Key Features of a Genetic Nondiscrimination Policy A Delphi Consensus Statement

From the abstract: "To identify key elements of an optimal genetic nondiscrimination policy and inform policymakers as they seek to allay genetic nondiscrimination and related public anxieties, 60 multidisciplinary experts from 20 jurisdictions worldwide were consulted to understand their views on effective genetic nondiscrimination policies. Overall, experts agreed that human rights–based approaches are well suited to preventing genetic discrimination. Experts also agreed that explicit prohibition of genetic discrimination within nondiscrimination policies can highlight the importance of genetic nondiscrimination as a fundamental right and ensure robust protection at a national level. "

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC 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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