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Hot Topics of the Day|PHGKB
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12/02/2019

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

Precision public health emerging as a discipline
JK COhen, Modern Healthcare, November 30, 2019

A new buzzword has crept into the health sciences lexicon: precision public health. By mixing the technical advancements of precision medicine with the goals of public health, practitioners they can improve health at the population level. A quick search on the PubMed for “precision public health” suggests the term is catching on, returning 75 articles since 2016.

Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer
AC Fahed et al, MedRXIV, November 29, 2019

For three genomic conditions (coronary artery disease, breast cancer, and colorectal cancer) polygenic risk powerfully modifies the risk conferred by monogenic risk variants. Across the lowest to highest percentiles of polygenic risk, disease risk ranged from 17% to 78% for coronary artery disease; 13% to 76% for breast cancer; and 11% to 80% for colon cancer.

Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan
S Sakaue et al, BioRXIV, NOvember 2019

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.
El Mecky Julia et al. BMC medical genomics 2019 Nov (1) 170

5 challenges in laboratory guidelines: 1. Should reinterpretation be conducted by the laboratory? 2. How does reinterpretation initiated by the laboratory relate to patient consent? 3. When should reinterpreted data be considered clinically significant? 4. Should reinterpretation or a new test be conducted? 5. How are reclassifications perceived?

Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz Tanya et al. BMC medical genomics 2019 Nov (1) 173

Return of actionable research findings was faster if disclosed directly to the participant by a research genetic counselor. There was a high acceptability amongst participants for receiving the findings, for referral to clinical genetics, and for clinical validation of research findings.

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Gubbels Cynthia S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov

Phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures and informing medical care.

Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data.
Middleton Anna et al. European journal of human genetics : EJHG 2019 Nov

This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n?=?8967) towards the donation of DNA and health data.

A Reporter Took DNA Tests in the U.S. and China. The Results Left Her Worried
KA Ha, et al, Bloomberg, November 30, 2019

Spitting into the plastic test tube, I felt nervous. I was offering up a piece of myself for decoding, and it reminded me of a visit to a fortune teller when I was 21. Then, I offered the palm of my hand in a bid to divine what fate had planned for me. Now, it was DNA, with my saliva destined for a laboratory in China.


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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