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Health Equity PHGKB

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

Last Posted: Apr 25, 2024
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Aspiring toward equitable benefits from genomic advances to individuals of ancestrally diverse backgrounds
(Posted Apr 25, 2024 9AM)

From the abstract: "Despite the promise of genomic technologies, their full potential remains untapped without including individuals of diverse ancestries and integrating social determinants of health (SDOHs). The NHGRI launched the 2020 Strategic Vision with ten bold predictions by 2030, including “individuals from ancestrally diverse backgrounds will benefit equitably from advances in human genomics." Meeting this goal requires a holistic approach that brings together genomic advancements with careful consideration to healthcare access as well as SDOHs to ensure that translation of genetics research is inclusive, affordable, and accessible and ultimately narrows rather than widens health disparities. "

Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review
(Posted Apr 19, 2024 10AM)

From the abstract: "A large proportion of patients with sickle cell disease (SCD) identify as Black or African American (AA). Social bias and stigma in healthcare outcomes for children with SCD are impossible to explore without considering the impact of racial/cultural identity, socioeconomic status (SES), and geography. It is important to understand the current influences of social movements, expanded health insurance coverage, and telehealth on these variables when considering healthcare outcomes for patients with SCD. "

Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial
(Posted Apr 19, 2024 10AM)

From the abstract: " Familial hypercholesterolemia (FH) is a heritable disorder affecting 1.3 million individuals in the USA. Eighty percent of people with FH are undiagnosed, particularly minoritized populations including Black or African American people, Asian or Asian American people, and women across racial groups. Family cascade screening is an evidence-based practice that can increase diagnosis and improve health outcomes but is rarely implemented in routine practice, representing an important care gap. In pilot work, we leveraged best practices from behavioral economics and implementation science—including mixed-methods contextual inquiry with clinicians, patients, and health system constituents—to co-design two patient-facing implementation strategies to address this care gap..."

Genetic Researchers' Use of and Interest in Research With Diverse Ancestral Groups.
(Posted Apr 18, 2024 8AM)

From the article: " Question: Are genetic researchers interested in research with diverse ancestral groups, and how can data stewards encourage that use? Findings: In this survey study of 294 genetic researchers, significantly more respondents reported working with data from European ancestral populations than any other ancestral population, and European samples were more likely to be considered by researchers as adequate across data-steward type. Most researchers were interested in using more diverse ancestral populations and reported that increasing ancestral diversity of existing databases would enable such research. Meaning: These findings suggest that there are specific gaps in access to and composition of genetic databases, underscoring the need to boost diversity in existing research samples to improve inclusivity in genetic research practices."


news Latest News and Publications
Enhanced identification of familial hypercholesterolemia using central laboratory algorithms. External Web Site Icon
Shirin Ibrahim et al. Atherosclerosis 2024 393117548
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
Translational Research and Health Equity: Gene Therapies for Sickle Cell Disease as a Case Study. External Web Site Icon
Mary A Majumder et al. Ethics Hum Res 2024 46(3) 34-39
Harnessing Artificial Intelligence to Address Oral Health Disparities. External Web Site Icon
Hawazin W Elani et al. JAMA Health Forum 2024 5(4) e240642
Impact of Race, Socioeconomic Status, and Geography on Healthcare Outcomes for Children With Sickle Cell Disease in the United States: A Scoping Review. External Web Site Icon
Sameerah Wahab et al. Cureus 2024 16(3) e56089
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. External Web Site Icon
Emil K Gustavsson et al. Lancet Neurol 2024
Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID. External Web Site Icon
Deanna M Green et al. Pediatrics 2024
Population-based BRCA germline mutation screening in the Han Chinese identifies individuals at risk of BRCA mutation-related cancer: experience from a clinical diagnostic center from greater Shanghai area. External Web Site Icon
Zhiyuan Wu et al. BMC Cancer 2024 24(1) 411
Algor-ethics: charting the ethical path for AI in critical care. External Web Site Icon
Jonathan Montomoli et al. J Clin Monit Comput 2024
Development and validation of a machine learning model for prediction of type 2 diabetes in patients with mental illness. External Web Site Icon
Martin Bernstorff et al. Acta Psychiatr Scand 2024

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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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