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Hot Topics of the Day|PHGKB
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12/06/2019

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

DNA-Based Population Screening- Potential Suitability and Important Knowledge Gaps
MF Murray et al, JAMA, December 6, 2019

Optimized DNA-based population screening for selected genes has been proposed as an approach with the potential to offer short-term benefit for the estimated 3 to 4 million individuals in the United States with 1 of these risks and longer-term benefit to more people. However, many questions need to be answered before commencing with routine population screening.

Genomic Medicine Year in Review: 2019
T Manolio et al, AJHG, December 4, 2019

A NHGRI Working Group attempted to identify in its view the ten most significant advances among 48 recognized “accomplishments” published during the past 12 months. These papers clustered into 11 broad categories; 12 papers spanned two categories. We selected ten papers for this review. Brief summaries are provided below.

As Use of Genomic Data Expands in Cancer Care, Patients Share Their Stories
NCI, December 3, 2019 Brand

The expanding use of personal genomic data has raised questions, including: Which patients should undergo genomic testing? Who controls a person’s genomic data? What are the potential benefits and risks of sharing one’s genomic data with researchers or family members?

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders.
D'Abate L et al. Nature communications 2019 Dec (1) 5519

The study describes clinical microarray findings for 253 longitudinally phenotyped ASD families from the Baby Siblings Research Consortium (BSRC), encompassing 288 infant siblings. By age 3, 103 siblings (35.8%) were diagnosed with ASD and 54 (18.8%) were developing atypically.

Progress Toward Precision Medicine in Frontline Treatment of Metastatic Renal Cell Carcinoma.
Singla Nirmish et al. JAMA oncology 2019 Dec

As molecular understanding of cancer biology evolves, precision medicine will play a growing role in guiding therapy. This is certainly evident in the case of metastatic renal cell carcinoma (mRCC), which is inherently a heterogeneous tumor type on both clinical and molecular levels.

Opportunities for pharmacists to integrate pharmacogenomics into clinical practice.
Wang Yan-Ting et al. The pharmacogenomics journal 2019 Dec

Fifteen PGx pharmacy practice models implemented in eleven hospitals and one community pharmacy in the U.S. were selected for evaluation. Pharmacists perform results interpretation, genotype-guided medication selection and adjustment, medication acquisition, adverse reactions monitoring, and patient education.

Algorithms on regulatory lockdown in medicine
B Babic et al, Science December 6, 2019

As use of artificial intelligence in medicine continues to grow, regulators face a fundamental problem: After evaluating a medical AI/ML technology and deeming it safe and effective, should the regulator limit its authorization to market only the version of the algorithm that was submitted, or permit marketing of an algorithm that can learn and adapt to new conditions?


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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