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Hot Topics of the Day|PHGKB
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11/12/2019

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

Host genetic variability and pneumococcal disease: a systematic review and meta-analysis.
Kloek Anne T et al. BMC medical genomics 2019 09 (1) 130

Studies have identified several host genetics factors influencing risk of pneumococcal disease, but many result in non-reproducible findings due to methodological limitations. Uniform case definitions and pooling of data is necessary to obtain more robust findings.

Family History and Heart Disease
NIDDK podcast, November 11, 2019

Heart disease is the number one cause of death for men and women. And if you have a family history of heart disease that may put you at a greater risk. Your risk increases if a close relative was diagnosed with heart disease, especially if it was before the age of 55 in your father or brother, or before the age of 65 if it was your mother or a sister.

Current Policy Challenges in Genomic Medicine
RD Klein, Clinical Chemistry, November 2019

Coverage and reimbursement policies present serious challenges to genetic and genomic testing. The potential for regulation of LDTs looms as a significant threat to diagnostic innovation, patient access, and the viability of molecular genetic testing laboratories. Changes in patent law could cause gene patents to reemerge as barriers to genomic medicine.

Real-time health monitoring through urine metabolomics
IJ Miller et al, NPJ Digital Medicine, November 11, 2019

New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019

Most individuals with an intellectual disability are offered a clinical examination using so-called gene dose array and DNA analysis for Fragile X syndrome. These genetic tests produce a molecular causal diagnosis in about 12% of cases Whole-genome sequencing can be used to diagnose intellectual disability more accurately than other methods.

Colorectal cancer-associated microbiota contributes to oncogenic epigenetic signatures
I Sobhani, et al, PNAS, November 11, 2019

This study advances our appreciation and understanding of the role of colon dysbiosis in the pathogenesis of colorectal cancer. In a human pilot study of 266 individuals, greater epigenomic (methylation) DNA alterations correlated with CRC and microbiota composition.

Why using genetic risk scores on embryos is wrong
E Birney blog, November 11, 2019

Polygenic risk scores are statistical models of the genetic component of the variation in traits in individuals observed in the population; they are not models of which bits of the limited possibilities of a genomes will impact a trait given particular parents.

Long-neglected gene plays a bigger role in Alzheimer’s than suspected, study shows
S Begley, StatNews, November 11, 2019

Just days after news that an ultra-rare form of a cholesterol-related gene called APOE protected a Colombian woman from developing early-onset Alzheimer’s disease (as one of her other genes supposedly fated her to), a second study is providing even stronger evidence that APOE might be the basis for preventing or treating Alzheimer’s.


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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