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Hot Topics of the Day|PHGKB
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04/09/2021

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

Guidance for Reporting SARS-CoV-2 Sequencing Results
CDC, April 9, 2021 Brand

CDC requests laboratories that are sequencing SARS-CoV-2 positive specimens to report those data to state, local, tribal, or territorial public health departments. The technical guidance provides detailed instructions and examples for how to report SARS-CoV-2 sequencing results to state, local, tribal, or territorial public health departments.

Development of a multivariable prediction model for severe COVID-19 disease: a population-based study from Hong Kong
J Zhou et al, NPJ Digital Medicine, April 8, 2021

The study developed a simple risk score for predicting severe COVID-19 disease using data based on simple clinical and laboratory variables. Consecutive patients admitted to Hong Kong’s public hospitals. The primary outcome was composite intensive care unit admission, need for intubation or death with follow-up until 8 September 2020. An external independent cohort from Wuhan was used for model validation.

The emergence, surge and subsequent wave of the SARS-CoV-2 pandemic in New York metropolitan area: The view from a major region-wide urgent care provider.
M Rane et al, MEDRXIV, April 7, 2021

Suboptimal response to COVID-19 mRNA vaccines in hematologic malignancies patients
M Agha et al, MEDRXIV, April 7, 2021

A Simple RT-PCR Melting temperature Assay to Rapidly Screen for Widely Circulating SARS-CoV-2 Variants.
PP Banada et al, MEDRXIV, April 8, 2021

The SARS-CoV-2 receptor angiotensin-converting enzyme 2 (ACE2) in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome: analysis of high-throughput epigenetic and gene expression studies
J Malato et al, MEDRXIV, April 8, 2021

Effect of RBD mutations in spike glycoprotein of SARS-CoV-2 on neutralizing IgG affinity
T Hayashi et al MEDRXIV, April 8, 2021

The impact of viral mutations on recognition by SARS-CoV-2 specific T-cells
TI de Silva et al, BIORXIV, April 8, 2021

Machine Learning for Early Lung Cancer Identification Using Routine Clinical and Laboratory Data.
Gould Michael K et al. American journal of respiratory and critical care medicine 2021

Most lung cancers are diagnosed at an advanced stage. Pre-symptomatic identification of high-risk individuals can prompt earlier intervention and improve long-term outcomes. To develop a model to predict a future diagnosis of lung cancer based on routine clinical and laboratory data, using machine-learning. We assembled 6,505 non-small cell lung cancer (NSCLC) cases and 189,597 contemporaneous controls and compared the accuracy of a novel machine-learning model to a modified version of the well-validated PLCOm2012 risk model.

Adherence to NCCN ALK testing guidelines for patients with advanced non-small cell lung cancer in US Community Medical Centers.
Bernicker Eric H et al. The oncologist 2021

We assessed adoption of testing recommendations for ALK rearrangements in a national database. While test utilization increased over the time period studied (2012-2019), there is still room for improvement. Efforts are needed to increase test utilization in under-tested groups, thus enabling eligible patients to benefit from novel lung cancer therapies.

New ethical challenges in the management of rare pediatric diseases with innovative therapies.
Dufosset M et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2021

Benefits and limitations of telegenetics: A literature review.
Gorrie Anita et al. Journal of genetic counseling 2021

Eight studies compared outcomes between telegenetics and in-person services; findings suggested when comparing telegenetics patients to their in-person counterparts, telegenetics patients had a similar level of knowledge and understanding of genetics and similar psychological outcomes. Some studies reported challenges related to establishing rapport and reading and responding to verbal cues via telegenetics, while technical issues were not generally found to be a major limitation.

Pharmacogenomics in the Era of Next Generation Sequencing - from Byte to Bedside.
Russell Laura E et al. Drug metabolism reviews 2021 1-79

we provide an update of the functional impacts of rare pharmacogenetic variability and how this information can be leveraged to improve pharmacogenetic guidance. Furthermore, we critically discuss the current status of implementation of pharmacogenetic testing across drug development and layers of care. We identify major gaps and provide perspectives on how these can be minimized to optimize the utilization of NGS data.

Patients' and Oncologists' Knowledge and Expectations Regarding Tumour Multigene Next Generation Sequencing: A Narrative Review.
Shirdarreh Melika et al. The oncologist 2021

Patients generally had positive attitudes towards tumour NGS despite relatively little knowledge of test-related genetics concepts, but their expectations often exceeded the reality of low clinical utility. Patients with higher education and greater genetics knowledge had more realistic expectations and a more altruistic view of the role of NGS. Attitudes towards disclosure of secondary findings were highly variable. Oncologists had poor to moderate genomic literacy.

AI uses patient data to optimize selection of eligibility criteria for clinical trials
NC Weng et al, ature News, April 7, 2021

An artificial-intelligence tool called Trial Pathfinder can run clinical-trial emulations using health-care data from people with cancer, and can learn how to optimize trial-inclusion eligibility criteria, while maintaining patient safety.

Advances and opportunities in malaria population genomics
DE Neafsey et al, Nature Rev Genetics, April 8, 2021

Population genomic data are increasingly being used to guide our understanding of malaria epidemiology, for example by assessing connectivity between populations and the efficacy of parasite and vector interventions. The potential value of these applications to malaria control strategies, together with the increasing diversity of genomic data types and contexts in which data are being generated, raise both opportunities and challenges in the field.

Diagnostic accuracy of deep learning in medical imaging: a systematic review and meta-analysis
R Aggarwal et al, NPJ Digital Medicine, April 7, 2021

Heterogeneity was high between studies and extensive variation in methodology, terminology and outcome measures was noted. This can lead to an overestimation of the diagnostic accuracy of DL algorithms on medical imaging. There is an immediate need for the development of artificial intelligence-specific EQUATOR guidelines, particularly STARD, in order to provide guidance around key issues in this field.


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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