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Hot Topics of the Day|PHGKB
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01/07/2020

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

The Stroke Family
The FH Foundation, January 6, 2020

When some people are first diagnosed with FH, they have a hard time believing that they must be on medication to ensure protection of their arteries. There are folks coming to FH groups in disbelief, asking “if I don’t take my statins, or some other therapy, will I really get a heart attack? Will I be young when these things might happen to me?”

New DNA tests mean babies and children can be diagnosed with rare diseases in just days
L Donnelly, The Telegraph, January 2020

The NHS is promising a “genomic revolution,” with rare child diseases diagnosed in days, with far more accuracy than has previously possible. So far, 80 families have been offered the new tests since rollout began in October. Almost half were given a diagnosis within days - twice the rate achieved by standard tests, which take months.

Development and mixed-methods evaluation of an online animation for young people about genome sequencing.
Lewis Celine et al. European journal of human genetics : EJHG 2020 Jan

Children and young people with rare and inherited diseases will be significant beneficiaries of genome sequencing. However, most educational resources are developed for adults. To address this gap in informational resources, we have co-designed, developed and evaluated an educational resource about genome sequencing for young people.

Innovation should support societal responsibility for health
R Milne et al, BMJ Blog, January 2020

The popular emphasis on genomics and precision health technology being harnessed by individuals fails to consider how it can be used to improve social determinants of health.

Challenges to the Reproducibility of Machine Learning Models in Health Care.
Beam Andrew L et al. JAMA 2020 Jan

Machine learning models are beginning to demonstrate early successes in clinical applications. This new class of clinical prediction tools presents unique challenges and obstacles to reproducibility, which must be carefully considered to ensure that these techniques are valid and deployed safely and effectively.

New PARP Inhibitor Approval for Pancreatic Cancer
L Schlager, FORCE, January 6, 2020

The Food and Drug Administration approved olaparib– a type of targeted therapy known as a PARP inhibitor—for treatment of metastatic pancreatic cancer in people with a BRCA mutation. PARP inhibitors have been approved to treat ovarian cancer since 2014, and to treat metastatic breast cancer patients with a BRCA mutation since 2018.

A Reality Check On Artificial Intelligence: Are Health Care Claims Overblown?
L Szabo, Kaiser Health News, December 2019

As happens when the tech industry gets involved, hype surrounds the claims that artificial intelligence will help patients and even replace some doctors.

Telling Your Children About Inheritable Cancer Risk
MA Landsmann, Cancer Today, December 2019

Letting children know they might have a mutation that increases their risk for cancer can be a challenge for patients. Experts stress there is no right or wrong way to share the information.


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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