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Health Equity PHGKB

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

Last Posted: May 22, 2024
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Generalization—a key challenge for responsible AI in patient-facing clinical applications
(Posted May 22, 2024 2PM)

From the abstract: "Generalization – the ability of AI systems to apply and/or extrapolate their knowledge to new data which might differ from the original training data – is a major challenge for the effective and responsible implementation of human-centric AI applications. Current debate in bioethics proposes selective prediction as a solution. Here we explore data-based reasons for generalization challenges and look at how selective predictions might be implemented technically, focusing on clinical AI applications in real-world healthcare settings. "

Pharmacogenomics, Race, and Treatment Outcome in Pediatric Acute Myeloid Leukemia
(Posted May 18, 2024 4PM)

From the abstract: " Can tailoring the intensity of induction therapy mitigate racial disparities in the outcome of pediatric patients with acute myeloid leukemia (AML)? Findings: In this comparative effectiveness analysis of 86 Black and 359 White patients with AML, Black patients exhibited a higher prevalence of low cytarabine pharmacogenomic 10–single-nucleotide variant (ACS10) scores, which were associated with an unfavorable outcome after initial treatment with low-dose cytarabine-based induction therapy. Augmentation of induction therapy was associated with improved outcome for patients with low ACS10 scores and with no disparity in outcome between Black patients and White patients."

High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response
(Posted May 14, 2024 3PM)

From the abstract: " How human genetic variation contributes to vaccine effectiveness in infants is unclear, and data are limited on these relationships in populations with African ancestries. We undertook genetic analyses of vaccine antibody responses in infants from Uganda (n=1391), Burkina Faso (n=353) and South Africa (n=755), identifying associations between human leukocyte antigen (HLA) and antibody response for five of eight tested antigens spanning pertussis, diphtheria and hepatitis B vaccines. In addition, through HLA typing 1,702 individuals from 11 populations of African ancestry derived predominantly from the 1000 Genomes Project, we constructed an imputation resource, fine-mapping class II HLA-DR and DQ associations explaining up to 10% of antibody response variance in our infant cohorts. "

Addressing Health Disparities—The Case for Variant Transthyretin Cardiac Amyloidosis Grows Stronger
(Posted May 14, 2024 3PM)

From the article: "There has been a transformational change in understanding heart failure due to transthyretin cardiac amyloidosis (ATTR-CA). Previously considered a rare condition, the widespread adaptation of nuclear imaging to establish the diagnosis has led to the recognition that ATTR-CA is commonly encountered in clinical practice. Additionally, the advent of effective disease-modifying therapies that reduce morbidity and mortality among affected patients has afforded hope to those newly diagnosed. Because these disease-modifying therapies are more effective when administered early in the course of the illness, before significant end-organ dysfunction has occurred, it is vital to facilitate early diagnosis. "

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Advancing genomics to improve health equity. External Web Site Icon
Ebony B Madden et al. Nat Genet 2024
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Inherent Bias in Electronic Health Records: A Scoping Review of Sources of Bias. External Web Site Icon
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Navigating equity in global access to genome therapy expanding access to potentially transformative therapies and benefiting those in need requires global policy changes. External Web Site Icon
Tsung-Ling Lee et al. Front Genet 2024 151381172


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.