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Last Posted: Apr 18, 2024
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Genetic Researchers' Use of and Interest in Research With Diverse Ancestral Groups.

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."

Overcoming barriers to single-cell RNA sequencing adoption in low- and middle-income countries
TB Serebour et al, EJHG, April 2, 2024

From the abstract: " The advent of single-cell resolution sequencing and spatial transcriptomics has enabled the delivery of cellular and molecular atlases of tissues and organs, providing new insights into tissue health and disease. However, if the full potential of these technologies is to be equitably realised, ancestrally inclusivity is paramount. Such a goal requires greater inclusion of both researchers and donors in low- and middle-income countries (LMICs). In this perspective, we describe the current landscape of ancestral inclusivity in genomic and single-cell transcriptomic studies. We discuss the collaborative efforts needed to scale the barriers to establishing, expanding, and adopting single-cell sequencing research in LMICs."

Utilizing geospatial artificial intelligence to map cancer disparities across health regions
A Fadiel et al, Sci Report, April 2, 2024

From the abstract: "We have developed an innovative tool, the Intelligent Catchment Analysis Tool (iCAT), designed to identify and address healthcare disparities across specific regions. Powered by Artificial Intelligence and Machine Learning, our tool employs a robust Geographic Information System (GIS) to map healthcare outcomes and disease disparities. iCAT allows users to query publicly available data sources, health system data, and treatment data, offering insights into gaps and disparities in diagnosis and treatment paradigms. "

Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
G Feero et al, JAMA, March 12, 2024

From the article: "In March 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) released a consensus study report titled Using Population Descriptors in Genetics and Genomics Research.The report is more than a discussion of the use of terminology; the authors of the NASEM report suggest a tectonic shift away from current models that use race, ethnicity, and geographic origin as proxies for genetic ancestry groups (ie, a set of individuals who share more similar genetic ancestries) in genetic and genomic science. The recommendations are rooted in evidence that genetic variation in individuals falls, in general, on a continuum of variation not captured well by existing population descriptors and that the ongoing use of such descriptors as analytical variables jeopardizes the scientific validity of research."

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