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Hot Topics of the Day|PHGKB
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11/06/2019

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

Molecular genetic framework underlying pulmonary arterial hypertension.
Southgate Laura et al. Nature reviews. Cardiology 2019 Aug

Precision medicine: The future of diagnostic approach to pulmonary hypertension?
Kedzierski Piotr et al. Anatolian journal of cardiology 2019 Sep (4) 168-171

Diabetes Care Editors' Expert Forum 2018: Managing Big Data for Diabetes Research and Care.
Riddle Matthew C et al. Diabetes care 2019 Jun 42(6) 1136-1146

Technological progress in the past half century has greatly increased our ability to collect, store, and transmit vast quantities of information, giving rise to the term "big data." This term refers to very large data sets that can be analyzed to identify patterns, trends, and associations.

Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov

The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern care. NBS programs can identify CF prior to clinical presentation, but a scrupulous system must be in place to ensure all steps in the program are performing

A governance model for the application of AI in health care.
Reddy Sandeep et al. Journal of the American Medical Informatics Association : JAMIA 2019 Nov

Responsible Use of Machine Learning Classifiers in Clinical Practice.
Maslen Hannah et al. Journal of law and medicine 2019 Oct 27(1) 37-49

The ethical, legal and social implications of using artificial intelligence systems in breast cancer care.
Carter Stacy M et al. Breast (Edinburgh, Scotland) 2019 Oct 4925-32

Trust Me, I'm a Chatbot: How Artificial Intelligence in Health Care Fails the Turing Test.
Powell John et al. Journal of medical Internet research 2019 Oct 21(10) e16222

Key challenges for delivering clinical impact with artificial intelligence.
Kelly Christopher J et al. BMC medicine 2019 Oct 17(1) 195

Deep Learning Predicts Extreme Preterm Birth from Electronic Health Records.
Gao Cheng et al. Journal of biomedical informatics 2019 Oct 103334

Models for predicting preterm birth generally have focused on very preterm (28-32 weeks) and moderate to late preterm (32-37 weeks) settings. However, extreme preterm birth, before the 28th week accounts for the majority of newborn deaths. We investigated the extent to which deep learning models based on electronic health records can predict EPB.

Gene-Editing Advance Puts More Gene-Based Cures Within Reach
F Collins, NIH Director Blog, November 5, 2019 Brand

There’s been tremendous excitement about the potential of CRISPR and related gene-editing technologies for treating or even curing sickle cell disease (SCD), muscular dystrophy, HIV, and a wide range of other devastating conditions. Now comes word of another remarkable advance—called “prime editing”—that may bring us even closer to reaching that goal.

Prospective Evaluation of a Breast Cancer Risk Model Integrating Classical Risk Factors and Polygenic Risk in 15 Cohorts from Six Countries
AN Wilcox et al., MedXRIV, November 5, 2019

Evaluation across multiple prospective cohorts demonstrates that integrating a 313-SNP PRS into a risk model substantially improves its ability to stratify women of European ancestry for applying current breast cancer prevention guidelines.

Evaluation of the accuracy of 99DOTS, a novel cellphone-based strategy for monitoring adherence to tuberculosis medications
BE Thomas et al, MedRXIV, November 5, 2019

99DOTS is a cellphone-based strategy for monitoring tuberculosis medication adherence. In a cohort of 650 Indian tuberculosis patients, we compared 99DOTS' adherence record against results of urine isoniazid tests collected during unannounced home visits. 99DOTS had suboptimal accuracy for measuring adherence, partly due to poor patient engagement.

HIV & AIDS with DNA HIV

FDA authorizes marketing of first next-generation sequencing test for detecting HIV-1 drug resistance mutations
FDA News, November 5, 2019

“The ability to rationally select treatments for patients about to start or already taking antiviral therapy provides another tool in our ongoing fight against HIV” said Peter Marks, director of the Center for Biologics Evaluation and Research. Today’s authorization offers healthcare providers a tool in helping to select treatment options for their patients


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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