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Hot Topics of the Day|PHGKB
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03/12/2021

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

Mapping the human genetic architecture of COVID-19 by worldwide meta-analysis
The COVID-19 Host Genetics Initiative, MEDRXIV, March 12, 2021

We formed a global network of researchers to investigate the role of human genetics in SARS-COV-2 infection and COVID-19 severity. We describe the results of three genome-wide association meta-analyses comprising 49,562 COVID-19 patients from 46 studies across 19 countries worldwide. We reported 15 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19.

The intersection of genetics and COVID-19 in 2021
SA Rasmussen et al, Genetics in Medicine, March 12, 2021

Some of the early projections for what to expect in the “genomic era”have been reinforced during the COVID-19 pandemic. In this pandemic year, genomic information and sequencing technologies have been used to diagnose individuals with SARS-CoV-2, define features of viral transmission and epidemiology, and understand disease pathology. The contributions from members of the human genomics community have been diverse in nature and international in scale.

Early introductions and community transmission of SARS-CoV-2 variant B.1.1.7 in the United States
T Alpert et al, MEDRXIV March 11, 2021

Over 2500 COVID-19 cases associated with this variant have been detected in the US since December 2020, but the extent of establishment is relatively unknown. Using travel, genomic, and diagnostic data, we highlight the primary ports of entry for B.1.1.7 in the US and locations of possible underreporting of B.1.1.7 cases. Furthermore, we found evidence for many independent B.1.1.7 establishments starting in early December 2020, followed by interstate spread by the end of the month.

Coronavirus GenBrowser for monitoring the transmission and evolution of SARS-CoV-2
D Yu et al, MREDRXIV, March 11, 2021

A large volume of SARS-CoV-2 genomic data has accumulated. To timely analyze and visualize the exponentially increasing viral genomic sequences, we developed the Coronavirus GenBrowser (CGB) based on the framework of distributed genome alignments and the evolutionary tree built on an existing subtree. Among the 330,942 genomic sequences analyzed, 253,798 mutations were identified, and three prevalent European variants were found to have no mutations in three months.

SARS-CoV-2 genomic surveillance identifies naturally occurring truncations of ORF7a that limit immune suppression
AA Nemudryi et al, MEDRXIV, March 10, 20201

Governing AI-Driven Health Research: Are IRBs Up to the Task?
Friesen Phoebe et al. Ethics & human research 2021 43(2) 35-42

Many are calling for concrete mechanisms of oversight for health research involving artificial intelligence (AI). In response, institutional review boards (IRBs) are being turned to as a familiar model of governance. Here, we examine the IRB model as a form of ethics oversight for health research that uses AI. We consider the model's origins, analyze the challenges IRBs are facing in the contexts of both industry and academia, and offer concrete recommendations.

7 tips for responsible use of health care AI
TA Henry, AMA, March 2021

The technological capacity exists to use augmented intelligence (AI) algorithms and tools to transform health care, but real challenges remain in ensuring that tools are developed, implemented and maintained responsibly.

Natural Language Processing and Machine Learning for Identifying Incident Stroke From Electronic Health Records: Algorithm Development and Validation.
Zhao Yiqing et al. Journal of medical Internet research 2021 23(3) e22951

We developed and validated a machine learning-based algorithm that performed well for identifying incident stroke and for determining type of stroke. The algorithm also performed well on a sample from a general population, further demonstrating its generalizability and potential for adoption by other institutions.

The Role of Genetic Testing for Parkinson's Disease.
Cook Lola et al. Current neurology and neuroscience reports 2021 21(4) 17

Despite growing knowledge, genetic testing for PD is not typically offered by neurologists including movement disorder specialists. Neurologists express concerns about the financial and practical issues of genetic testing as well as the potential impact on their patients. Researchers and specialists in the field are questioning this hesitation as clinical utility and consumer demand increase.

Assessing the quality of mobile applications in chronic disease management: a scoping review
P Agarwal et all, NPJ Digital Medicine, March 10, 2021

This study highlights the significant variation in quality criteria employed for the assessment of mobile health apps. Future methods for app evaluation will benefit from approaches that leverage the best evidence regarding the clinical impact and behavior change mechanisms while more directly reflecting patient needs when evaluating the quality of apps.

Sickle Cell Treatment Not Linked to Cancer, Researchers Say
G Kolata, NY Times, March 10, 2021

Just a few weeks after a promising gene therapy for sickle cell disease seemed to have hit a roadblock, prospects for the treatment now look better. Preliminary data suggesting that it might cause cancer have not held up.

NIH researchers develop guidelines for reporting polygenic risk scores
P Ganguly, NHGRI, March 10, 20201 Brand

A real challenge is that the research community has not adopted any universal best practices for reporting polygenic risk scores. With the field growing as fast as it is, we need standards in place so we can meaningfully evaluate these scores and determine which ones are ready to be used in clinical care.


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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