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Hot Topics of the Day|PHGKB
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10/06/2023

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

Scientists discover how dozens of genes may contribute to autism
M Johnson, The Washington Post, October 5, 2023

From the article: "Using a host of high-tech tools to simulate brain development in a lab dish, researchers have discovered several dozen genes that interfere with crucial steps in the process and may lead to autism, a spectrum of disorders that affects about one in every 36 Americans, impairing their ability to communicate and interact with others. The results of a decade of work may one day pave the way for scientists to design treatments that allow these phases of brain development to proceed unimpaired. "

Precision medicine of obesity as an integral part of type 2 diabetes management – past, present, and future
L Szczerbinski et al. The Lancet Diabetes Endocr, October 4, 2023

From the abstract: " In this Review, we discuss advances in the genetics of obesity from the past decade—with emphasis on developments from the past 5 years—with a focus on metabolic consequences, and their potential implications for precision management of the disease. We also provide an overview of the potential role of genetics in guiding weight loss strategies. Finally, we propose a vision for the future of precision obesity management."

Precision medicine for cardiometabolic disease: a framework for clinical translation
PW Franks et al, The Lancet Diabetes Endoc, October 4, 2023

From the abstract: "To contextualise precision medicine in both research and clinical settings, and to encourage the successful translation of discovery science into clinical practice, in this Series paper we outline a model (the EPPOS model) that builds on contemporary evidence-based approaches; includes precision medicine that improves disease-related predictions by stratifying a cohort into subgroups of similar characteristics, or using participants' characteristics to model treatment outcomes directly; "

Understanding diabetes heterogeneity: key steps towards precision medicine in diabetes
RD Leslie et al, The Lancet Diabetes and Endocrinology, October 4, 2023

From the abstract: "Diabetes is a highly heterogeneous condition; yet, it is diagnosed by measuring a single blood-borne metabolite, glucose, irrespective of etiology. Although pragmatically helpful, disease classification can become complex and limit advances in research and medical care. The impact of any given disease risk factor will vary from person-to-person depending on their background, diabetes-related propensity, and environmental exposures. Defining the consequent heterogeneity within diabetes through precision medicine could improve health outcomes today and shine a light on avenues for novel therapy in the future. "

Blood-based tests for multicancer early detection (PATHFINDER): a prospective cohort study
D Shrag et al. The Lancet, October 7, 2023

From the abstract: "Multicancer early detection (MCED) blood tests can detect a cancer signal from circulating cell-free DNA (cfDNA). PATHFINDER was a prospective cohort study investigating the feasibility of MCED testing for cancer screening. In this prospective cohort study done in oncology and primary care outpatient clinics at seven US health networks, a convenience sample of adults aged 50 years or older without signs or symptoms of cancer consented to MCED testing. The study supports the feasibility of MCED screening for cancer and underscores the need for further research investigating the test's clinical utility. "

Heterogeneity and treatment landscape of ovarian carcinoma.
Ana C Veneziani et al. Nat Rev Clin Oncol 2023 10

From the abstract: "Ovarian carcinoma is characterized by heterogeneity at the molecular, cellular and anatomical levels, both spatially and temporally. This heterogeneity affects response to surgery and/or systemic therapy, and also facilitates inherent and acquired drug resistance. As a consequence, this tumour type is often aggressive and frequently lethal. Ovarian carcinoma is not a single disease entity and comprises various subtypes, each with distinct complex molecular landscapes that change during progression and therapy. "

Gene therapies for rare diseases are under threat. Scientists hope to save them- As industry steps aside, scientists seek innovative ways to make sure expensive treatments can reach people who need them.
H Ledford, Nature, October 6, 2023

From the article: "In the past two years, two gene therapies have been withdrawn from the European market for business reasons after earning regulators’ approval. Concern is mounting that other gene therapies for rare diseases will meet a similar fate, as might upcoming treatments that rely on the related technique of genome editing, which makes targeted DNA changes. "


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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