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Last Posted: Apr-29-2024 11:16:43

Inequity of genetic screening: DNA tests fail non-white families more often
(Posted Apr 29, 2024 11AM)

From the article: "DNA sequencing for metabolic diseases in newborns may eventually replace the traditional method of genetic screening used to check all new babies for a group of rare, inherited diseases that can cause severe neurologic damage and death if not detected quickly. But currently, research is showing that those advanced methods of genetic tests aren't equally useful for everyone: They're less accurate for non-white families, raising concerns about how historical gaps in whose DNA gets studied produce inequities in medical care."

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing
(Posted Apr 29, 2024 11AM)

From the abstract: "Measuring effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents’ perceived utility of pediatric diagnostic GS. Methods: Informed by a five-domain conceptual model, the study comprised five steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity. "

Polygenic scores for longitudinal prediction of incident type 2 diabetes in an ancestrally and medically diverse primary care physician network: a patient cohort study
(Posted Apr 29, 2024 11AM)

From the article: "Genetic information, if available, could improve T2D prediction among patients lacking measured clinical risk factors. Genome-wide association studies (GWAS) have identified hundreds of unique loci associated with T2D, the results of which can be used to calculate polygenic scores (PGS) that model genetic risk independently of established clinical risk factors including family history. Previous work has evaluated how PGS can be used within healthcare systems, but analyses have been largely cross-sectional in biobanks of mostly European ancestry, limiting the generalizability of results to a more ancestrally and medically diverse US healthcare system. "

Bird flu virus has been spreading in US cows for months, RNA reveals Genomic analysis suggests that the outbreak probably began in December or January, but a shortage of data is hampering efforts to pin down the source.
(Posted Apr 29, 2024 11AM)

From the article: "A strain of highly pathogenic avian influenza has been silently spreading in US cattle for months, according to preliminary analysis of genomic data. The outbreak is likely to have begun when the virus jumped from an infected bird into a cow, probably around late December or early January. This implies a protracted, undetected spread of the virus — suggesting that more cattle across the United States, and even in neighbouring regions, could have been infected with avian influenza than currently reported. These conclusions are based on swift and summary analyses by researchers, following a dump of genomic data by the US Department of Agriculture (USDA) into a public repository earlier this week. "

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PHGKB Weekly Horizon Scan features the latest information and publications on the public health impact of human genomics and family history, pathogen genomics and advanced molecular detection, machine learning and precision health technologies.

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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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