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May 18, 2024

Last Posted: May-18-2024 16:25:46

Genomic sequencing research in pediatric cancer care: Decision-making, attitudes, and perceived utility among adolescents and young adults and their parents

From the abstract: "Professional guidelines recommend engaging adolescents and young adults (AYAs) in medical decision-making (DM), including whether to undergo genomic sequencing (GS). We explored DM around GS and attitudes after return of GS results among a diverse group of AYAs with cancer and their parents. Methods: We surveyed AYAs with cancer (n=75) and their parents (n=52) six months after receiving GS results through the Texas KidsCanSeq Study. We analyzed AYAs’ DM role in GS research enrollment and their satisfaction with that role. We compared AYAs’ and parents’ self-reported understanding of, attitudes toward, and perceived utility of the AYAs’ GS results. "

mRNA therapy is safe for treating the inherited metabolic condition propionic acidaemia

From the article: "Propionic acidaemia is an inherited metabolic condition caused by a lack of a liver enzyme, which leads to accumulation of toxic compounds. In a first-in-human trial, a therapeutic messenger RNA drug (mRNA-3927) led to restored enzyme activity, was well tolerated and showed a promising dose-dependent reduction of potentially life-threatening clinical events. "

Pharmacogenomics, Race, and Treatment Outcome in Pediatric Acute Myeloid Leukemia

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."

Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

From the abstract: "Timely diagnosis is one of the most serious challenges faced by people living with a rare disease (PLWRD), and this study estimates that in Europe, the average total diagnosis time (TDT) is close to 5 years. We investigated the duration of the TDT for PLWRD in Europe, the difficulties associated with their diagnosis odyssey and the main determinants of diagnosis delays for all rare diseases (RD). "


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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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.
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