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Genome-wide Association studies (GWAS) in the Quest to Understand the Causes of Birth Defects

a woman and doctor looking at a newborn with a Manhatten plot on the background

Our recent review and commentary found that relatively few genome-wide association studies (GWAS) on structural birth defects have been done, compared with the number of GWAS on other conditions. We reviewed the literature to identify GWAS on oral clefts, congenital heart defects (CHDs), biliary atresia, pyloric stenosis, hypospadias, craniosynostosis, and clubfoot. We did not find Read More >

Posted on by Ridgely Fisk Green, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention; Philip J. Lupo, Department of Pediatrics, Section of Hematology-Oncology, Baylor College of Medicine; Laura E. Mitchell, Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health; Mary M. Jenkins, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention
Categories genomics
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Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead

a map of the world, an artery clogged with cholesterol and a pedigree with hearts

In our previous blog, we discussed familial hypercholesterolemia as a prototype for “precision public health” and how the combination of public health and genetic approaches can contribute to raising awareness, diagnosis, and treatment of more than 1 million individuals in the United States with this relatively common genetic condition. Familial hypercholesterolemia (FH) is an underdiagnosed Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health; and Betsy L. Thompson, Division for Heart Disease and Stroke Prevention. Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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“Precision” Health Tools and… Increased Health Disparities?

a doctor talking to his patient under a magnifying glass over a crowd of people

Working from the perspective of public health, we have frequently expressed concerns about the potential of precision health technology to exacerbate health disparities. Many of these discussions have focused on genomic-based approaches such as using polygenic risk scores (PRS) for a wide array of disease and health outcomes. Because of minority underrepresentation in basic research, Read More >

Posted on by Scott Bowen, Muin J Khoury, Office of Genomics and Precision Public Health; Ramal Moonesinghe, Office of Minority Health and Health Equity – Centers for Disease Control and Prevention; and George A Mensah, Center for Translation Research and Implementation Science, National Institutes of Health, National Heart, Lung, and Blood Institute
Categories genomics
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Progress in Pathogen Genomics as a Prototype for Precision Public Health

four arrows labeled Bacterial Foodborne Illness, Parasitic Diseases, Tuberculosis and Influenza pointing to Pathogen Genomics: A Prototype for Precision Public Health with DNA around

Rapid advances in pathogen genomics have ushered in a new era of “precision public health.” Next-generation sequencing is already enabling more effective investigations of outbreaks of foodborne illnesses, better-targeted tuberculosis control, and more timely and granular influenza surveillance to inform the selection of vaccine strains. In a recent paper in the New England Journal of Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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Communication and Information Sharing about Genomics and Precision Health: Opportunities for Improvement

several hands holding puzzle pieces labeled PHGKb, Genomic Blog, Twitter Posts, Weekly Update, Tiered Evidence, an image of a bullhorn, three people conversing and a magnifying glass. These puzzle pieces are being pushed together to a center piece in red with DNA.

In this blog, we describe our current approach to information sharing based on a recent review of our communication and engagement strategies. In order to improve our approaches to communication, we are asking you, our readers, for feedback—please share your thoughts in the comments section below or send us an email at mailto:genetics@cdc.gov. For the Read More >

Posted on by Caitlin G. Allen, Ridgely Fisk Green and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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