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Last Posted: Sep 23, 2022
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Multimodal biomedical AI.
Acosta Julián N et al. Nature medicine 2022 9

The increasing availability of biomedical data from large biobanks, electronic health records, medical imaging, wearable and ambient biosensors, and the lower cost of genome and microbiome sequencing have set the stage for the development of multimodal artificial intelligence solutions that capture the complexity of human health and disease. In this Review, we outline the key applications enabled, along with the technical and analytical challenges.

Using deep learning and electronic health records to detect Noonan syndrome in pediatric patien
Z Yang et al, Genetics in Medicine, September 13, 2022

Using diagnosis texts extracted from Cincinnati Children’s Hospital’s EHR database, we constructed deep learning models from 162 NS cases and 16,200 putative controls. Performance was evaluated on 2 independent test sets, one containing patients with NS who were previously diagnosed and the other containing patients with undiagnosed NS. Our novel method performed significantly better than the previous method, with the convolutional neural network model achieving the highest area under the precision-recall curve in both test sets (diagnosed: 0.43, undiagnosed: 0.16).

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative
R Johnson et al, Genome Medicine, September 9, 2022

We quantify the extensive continental and subcontinental genetic diversity within the ATLAS data through principal component analysis, identity-by-descent, and genetic admixture. We assess the relationship between genetically inferred ancestry (GIA) and >1500 EHR-derived phenotypes (phecodes). Finally, we demonstrate the utility of genetic data linked with EHR to perform ancestry-specific and multi-ancestry genome and phenome-wide scans across a broad set of disease phenotypes.

Communicating Precision Medicine Research: Multidisciplinary Teams and Diverse Communities.
Beans Julie A et al. Public health genomics 2022 8 1-9

A shared definition of precision medicine research as well as six case examples of precision medicine research involving genetic risk, pharmacogenetics, epigenetics, the microbiome, mobile health, and electronic health records were developed. Discussion/Conclusion: The precision medicine research definition and case examples can be used as planning tools to establish a shared understanding of the scope of precision medicine research across multidisciplinary teams and with the diverse communities.

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.