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Hot Topics of the Day|PHGKB
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08/11/2020

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

Genomic sequencing to screen newborns raises more false alarms than routine blood tests, study finds
R Robbins, Stat News, August 10, 2020

“Whether or not you think this is a good idea from an ethics point of view, which I think there are lots of reservations about, it actually is not as helpful as you might think it’s going to be.”

The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari et al, Nature Medicine, August 10, 2020

We obtained archived residual dried blood spots and data for nearly all IEM cases from the 4.5 million infants born in California between mid-2005 and 2013 and from some infants who screened positive by MS/MS, but were unaffected. WES had an overall sensitivity of 88% and specificity of 98.4%, compared to 99.0% and 99.8%, respectively for MS/MS.

Discovery through clinical sequencing in oncology
MTA Donoghue et al, Nat Cancer, August 10, 2020

Beyond its role in driving clinical-trial enrollments and guiding therapy in individual patients, large-scale clinical genomics in oncology also represents a rapidly expanding research resource for translational scientific discovery.

The Human Genome Project changed everything
RA Gibbs, Nat Rev Genetics, August 7, 2020

Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the promises that this voyage of discovery bore. Its success should be measured by how this project transformed the rules of research, the way of practising biological discovery and the ubiquitous digitization of biological science.

A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia
Y Luo et al, Nature Medicine, August 10, 2020

By combining healthcare claims, electronic health records, familial whole-exome sequences and neurodevelopmental gene expression patterns, we identified a subgroup of patients with dyslipidemia-associated autism.

On the Interplay of Regional Mobility, Social Connectedness, and the Spread of COVID-19 in Germany
C Fritz et al, ARXIV, August 7, 2020

Applications of predictive modelling early in the COVID-19 epidemic
C Poletto et al, The Lancet, August 10, 2020

Predictive modelling is valuable when assumptions are related, the variables to be estimated are clearly defined, and researchers or policy makers who use the model outputs have a clear understanding of what can and cannot be achieved by this method.

A Classification Approach for Predicting COVID-19 Patient Survival Outcome with Machine Learning Techniques
AA Osi et al, MEDRXIV, August 10, 2020

She Had Her Own Mutation, Sequencing Led to a Treatment and Major Genetic Discovery – Then She Died of COVID
R Lewis, PLOS Blogs, August 6, 2020

Despite doing well, she was on dialysis as her kidneys were not functional, and she was on immunosuppression due to the transplant she had years ago. So she was at high risk, and unfortunately got infected with SARS-COV-2. It broke our hearts, but at least we were able to improve her quality of life substantially, if only for 2 years.

Identification of Undetected Monogenic Cardiovascular Disorders
JW AbdulRahim et al, JACC, August 7, 2020

Exomes from 8,574 individuals referred for cardiac catheterization were analyzed. Overall, 149 individuals (1.7% of cohort) had monogenic cardiovascular diseases, but only 35% were diagnosed. These patients represents a “missed opportunity,” which could be addressed by greater use of genetic testing of patients seen by cardiologists.

Health Policy and Privacy Challenges Associated With Digital Technology
D Grande et al, JAMA Network Open, August 9, 2020

Five key characteristics were associated with health privacy policy challenges: invisibility (people are unaware of how their data are tracked), inaccuracy (data in the digital health footprint can be inaccurate), immortality (data have no expiration date and are aggregated over time), marketability and identifiability.


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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