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Hot Topics of the Day|PHGKB
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01/02/2020

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

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia A Global Call to Action
JAMA Cardiology, January 2, 2020

The Global Call to Action on Familial Hypercholesterolemia thus represents individuals with FH, advocacy leaders, scientific experts, policy makers, and the original authors of the 1998 World Health Organization report. Attendees from 40 countries brought perspectives on FH from low-, middle-, and high-income regions.

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?
Page Michael M et al. Clinical genetics 2019 Dec

Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto Maria Donata et al. European journal of medical genetics 2019 Dec 103831

The Characteristics of Patients with Possible Familial Hypercholesterolemia- Screening a Large Payer/ProviderHealthcare Delivery System.
Elis A et al. QJM : monthly journal of the Association of Physicians 2019 Dec

Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities.
Vuorio A et al. Journal of internal medicine 2020 Jan 287(1) 2-18

The cumulative burden of two genetically determined pro-atherogenic lipoproteins, LDL and Lp(a), is a potent driver of ASCVD in HeFH patients. Statins are the cornerstone of treatment of HeFH, but they do not lower the plasma concentrations of Lp(a). Emerging therapies effectively lower Lp(a) target the transcriptional product of the LPA gene.

Two Threats to Precision Medicine Equity.
Matthew Dayna Bowen et al. Ethnicity & disease 2019 29(Suppl 3) 629-640

Ethical and Legal Considerations for the Inclusion of Underserved and Underrepresented Immigrant Populations in Precision Health and Genomic Research in the United States.
Wagner Jennifer K et al. Ethnicity & disease 2019 29(Suppl 3) 641-650

How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
Wolf Susan M et al. Ethnicity & disease 2019 29(Suppl 3) 623-628

Legal barriers limit use of precision medicine to advance health equity. Problems include inadequate privacy and anti-discrimination protections for research participants, lack of health coverage and funding for follow-up care, failure to use law to ensure access to genomic medicine, and practices by research sponsors that tolerate and entrench disparities.

Assessing relatives' readiness for hereditary cancer cascade genetic testing.
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec

How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.
Marleen van den Heuvel Lieke et al. Journal of genetic counseling 2019 Dec

The uptake of predictive DNA testing in families with a hereditary disease is <50%. Current practice often relies on the proband to inform relatives. To enable informed decision-making concerning predictive DNA testing, this study investigated the preferences of patients, relatives, and the general population.

Benefit from extended surveillance interval on colorectal cancer risk in Lynch syndrome.
Lindberg Lars Joachim et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2019 Dec

A call for global action for rare diseases in Africa.
Baynam Gareth S et al. Nature genetics 2019 Dec

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec

We identified a number of serum biomarkers associated with disease progression, loss of ambulation, and treatment with corticosteroids. Serum levels of MDH2 are of particular interest, as they correlate with disease stage and response to treatment with corticosteroids, and are also associated with the risk of wheelchair dependency and pulmonary function.

Medical Big Data Is Not Yet Available: Why We Need Realism Rather than Exaggeration.
Kim Hun Sung et al. Endocrinology and metabolism (Seoul, Korea) 2019 Dec 34(4) 349-354

Pharmacoepidemiology and Big Data Analytics: Challenges and Opportunities when Moving towards Precision Medicine.
Burden Andrea M et al. Chimia 2019 Dec 73(12) 1012-1017

Pharmacoepidemiology is the study of the safety and effectiveness of medications following market approval. The increased availability and size of healthcare utilization databases allows for the study of rare adverse events, sub-group analyses, and long-term follow-up. These datasets are large, including thousands of patient records spanning multiple years.

Cost-effectiveness of targeted screening for the identification of patients with atrial fibrillation: Evaluation of a machine learning risk prediction algorithm.
Hill Nathan R et al. Journal of medical economics 2019 Dec 1

As many cases of atrial fibrillation (AF) are asymptomatic, patients often remain undiagnosed until complications manifest. Risk-prediction algorithms may help to efficiently identify people with undiagnosed AF. This study aimed to assess the cost-effectiveness of targeted screening, informed by a machine learning risk prediction algorithm, to identify patients with AF.

A combined strategy of feature selection and machine learning to identify predictors of prediabetes.
De Silva Kushan et al. Journal of the American Medical Informatics Association : JAMIA 2019 Dec

To identify predictors of prediabetes using feature selection and machine learning on a nationally representative sample of the US population (NHANES). Prediabetes was defined using American Diabetes Association guidelines. The sample was randomly partitioned to training and internal validation sets.


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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