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Hot Topics of the Day|PHGKB
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02/19/2020

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

Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease?
SS Khan et al, JAMA Editorial, February 18, 2020

Available data do not support the clinical utility of polygenic risk scores (in their current form) in middle-aged adults of European descent. In the meanwhile, the best approach for prevention of CAD continues to be a combination of population-wide risk factor approaches and addition of drug therapies and lifestyle interventions.

Using Social Media to Track Geographic Variability in Language About Diabetes: Analysis of Diabetes-Related Tweets Across the United States.
Griffis Heather et al. JMIR diabetes 2020 Jan 5(1) e14431

Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb

Monogenic diabetes is a subset of diabetes characterized by the presence of single-gene mutations and includes neonatal diabetes mellitus and maturity-onset diabetes of the young. Due to the genetic etiology of monogenic diabetes, molecular genetic testing can be used for the diagnosis and classification.

Determining the incidence of rare diseases.
Bainbridge Matthew N et al. Human genetics 2020 Feb

We propose a new method to determine incidence of rare, severe, recessive disease in non-consanguineous populations that use known allele frequencies, estimate the combined allele frequency of observed alleles and estimate the number of causative alleles that are thus far unobserved in a disease cohort.

Genetic considerations for adults with congenital heart disease.
Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb

The population of adults with CHD is growing rapidly with advances in medical care. Genetic causes of CHD can be classified into: (a) chromosomal aneuploidy, (b) large chromosomal deletion or duplication, (c) single gene mutation, and (d) copy number variation. 20-30% of CHD cases have an established etiology. The role of genetics in the field is increasing.

Management of Male Breast Cancer: ASCO Guideline.
Hassett Michael J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO1903120

ASCO convened an Expert Panel to develop recommendations based on a systematic review and a formal consensus process.26 descriptive reports or observational studies met eligibility criteria and formed the evidentiary basis for the recommendations. Many of the management approaches used for men with breast cancer are like those used for women.

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Recommendation Statement.
et al. American family physician 2020 Feb 101(4) 233-238

Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
Mills Justin et al. American family physician 2020 Feb 101(4) 239-240

Genetic Predisposition to Breast and Ovarian Cancers: How Many and Which Genes to Test?
Angeli Davide et al. International journal of molecular sciences 2020 Feb 21(3)


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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