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Health Equity PHGKB

Specific PHGKB|Health Equity PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Feb 23, 2024
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Recent advances in polygenic scores: translation, equitability, methods and FAIR tools.
Ruidong Xiang et al. Genome Med 2024 2 (1) 33 (Posted Feb 22, 2024 11AM)

From the abstract: " We review the latest potential benefits of PGS in the clinic and challenges to implementation. PGS could augment risk stratification through combined use with traditional risk factors (demographics, disease-specific risk factors, family history, etc.), to support diagnostic pathways, to predict groups with therapeutic benefits, and to increase the efficiency of clinical trials. However, there exist challenges to maximizing the clinical utility of PGS, including FAIR (Findable, Accessible, Interoperable, and Reusable) use and standardized sharing of the genomic data needed to develop and recalculate PGS, the equitable performance of PGS across populations."

Genomic risk scores in prostate cancer: polygenic yes, but are they poly-ancestral?
Arnab Basu et al. J Natl Cancer Inst 2024 2 (Posted Feb 22, 2024 9AM)

From the article: "Today, these new studies are providing critical data necessary to update our risk evaluation tools in an intentionally inclusive way and advance the quality of care for all patients with prostate cancer. A recent study focuses on germline risk scores for prostate cancer diagnosis, but closer investigation of genomic data holds the promise of improving outcomes for patients of African ancestry at all stages of their disease course. "

The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
E Venner et al, Comm Biology, February 19, 2024 (Posted Feb 20, 2024 7AM)

From the abstract: "Here, we examine pathogenic and likely pathogenic variants that were identified in the All of Us cohort. The European ancestry subgroup showed the highest overall rate of pathogenic variation, with 2.26% of participants having a pathogenic variant. Other ancestry groups had lower rates of pathogenic variation, including 1.62% for the African ancestry group and 1.32% in the Latino/Admixed American ancestry group. "

Ambitious survey of human diversity yields millions of undiscovered genetic variants Analysis of the ‘All of Us’ genomic data set begins to tackle inequities in genetics research.
M Koslov, Nature, February 19, 2024 (Posted Feb 20, 2024 7AM)

From the abstract: "A massive US programme that aims to improve health care by focusing on the genomes and health profiles of historically underrepresented groups has begun to yield results. Analyses of up to 245,000 genomes gathered by the All of Us programme, run by the US National Institutes of Health in Bethesda, Maryland, have uncovered more than 275 million new genetic markers, nearly 150 of which might contribute to type 2 diabetes. The work has also identified gaps in genetics research on non-white populations. The findings were published on 19 February in a package of papers "

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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.