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Hot Topics of the Day|PHGKB
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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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Archived Hot Topics of the Day By Date

Big advocacy, little recognition: the hidden work of Black patients in precision medicine
LH Jerido et al, J Comm Genetics, October 2023

From the abstract: " As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations."

Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
M Peter et al, EJHG, October 3, 2023

From the article: "In this study, we used cross-sectional surveys to compare the knowledge, attitudes, and decision regret of 100kGP participants at the time of consenting for GS and at least 12 months later. Like other work in which public attitudes towards GS have been shown to be favorable our study showed that, in general, people felt positively about GS with most reporting it to be beneficial. Notably, we showed that attitudes towards GS remained stable over time, with both positive and negative feelings towards GS remaining unchanged for individuals between T1 and T2."

A framework for evaluating long-term impact of newborn screening
S Kalkman et al, EJHG, October 3, 2023

From the article: "Today, expansion of NBS is accompanied by even more uncertainty about the benefit-harm ratio than before. New pharmacotherapies and technological developments in metabolomics and genomics have led to a substantial expansion of the NBS panel in a relatively short period of time. These novel tests and treatment options have generally not been assessed in presymptomatic individuals and knowledge on long-term outcome of treatment is lacking. Periodic evaluation would thus create important opportunities for continuous quality improvement; if the benefit-harm ratio is unfavorable then there is a strong case for adjustments or even for removing a condition from the panel."

Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific 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 Clips, 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.