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Hot Topics of the Day|PHGKB
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03/06/2024

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

Rethinking non-syndromic hearing loss and its mimics in the genomic era
B Vona, EJHG, March 6, 2024

From the article: "The sense of hearing plays a crucial role in everyday life, from influencing speech and language development in early childhood to reducing risk of social isolation, depression and cognitive decline in the elderly. The causes of hearing loss are numerous, although genetic causes are thought to be implicated in up to 80% of congenital diagnoses (reviewed in ref. [1]). The remarkable complexity of the auditory system is mirrored in its extensive genetic heterogeneity, with deleterious variants in hundreds of genes already associated with hearing loss and many more awaiting discovery. "

Multi-ancestry polygenic mechanisms of type 2 diabetes
K Smith et al, Nature Medicine, March 6, 2024

From the abstract: "Type 2 diabetes (T2D) is a multifactorial disease with substantial genetic risk, for which the underlying biological mechanisms are not fully understood. In this study, we identified multi-ancestry T2D genetic clusters by analyzing genetic data from diverse populations in 37 published T2D genome-wide association studies representing more than 1.4 million individuals. We implemented soft clustering with 650 T2D-associated genetic variants and 110 T2D-related traits, capturing known and novel T2D clusters with distinct cardiometabolic trait associations across two independent biobanks. "

To warrant clinical adoption AI models require a multi-faceted implementation evaluation
D van De Sande et al, NPJ Digital Medicine, March 6, 2024

From the abstract: "Despite artificial intelligence (AI) technology progresses at unprecedented rate, our ability to translate these advancements into clinical value and adoption at the bedside remains comparatively limited. This paper reviews the current use of implementation outcomes in randomized controlled trials evaluating AI-based clinical decision support and found limited adoption. To advance trust and clinical adoption of AI, there is a need to bridge the gap between traditional quantitative metrics and implementation outcomes to better grasp the reasons behind the success or failure of AI systems and improve their translation into clinical value. "

Why we should not mistake accuracy of medical AI for efficiency
KR Jongsma et al, NPJ Digital Medicine, March 4, 2024

From the abstract: "In the medical literature, promising results regarding accuracy of medical AI are presented as claims for its potential to increase efficiency. This elision of concepts is misleading and incorrect. The promise that AI will reduce human workload rests on a too narrow assessment of what constitutes workload in the first place. Human operators need new skills and deal with new responsibilities, these systems need an elaborate infrastructure and support system that all contribute to an increased amount of human work and short-term efficiency wins may become sources of long-term inefficiency. "


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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