Genomics and Precision Health Posts

In the Era of Public Health Emergencies, Interoperability Rules are a Beacon for More Precision in Public Health

In the current wake of COVID-19, it is evident that the public health ecosystem needs to modernize how we gather, make sense of, and disseminate data from multiple sources.  The health threats we face today spread wider and change faster than the data flows our traditional approaches were designed to accommodate.  Becoming more adept with Read More >

Posted on by Paula Braun, Entrepreneur in Residence, Centers for Disease Control and PreventionTags

A Public Health Genomics Pioneer

headshot of Toby Citrin

Remembering Toby Citrin Today, public health genomics is an established and respected field which is integrated into numerous public health programs. This was not the case in the year 2000. CDC had established the Office of Genomics and Precision Public Health two years prior (initially called the Office of Genetics and Disease Prevention), but few Read More >

Posted on by Scott Bowen, Muin J Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention with Sharon Kardia and Stephen Modell, University of Michigan1 Comment

Should polygenic risk scores be used in risk-stratified colorectal cancer screening?

a polygenic risk score bell and a body with a colon being exposed

Polygenic risk scores (PRS) summarize information about a person’s disease risk based on numerous DNA variants in their genome. Each variant confers very little increase in disease risk. But composite (or polygenic) risk scores made up of a number of such variants have been shown to stratify people to normal distributions of disease risks for Read More >

Posted on by W. David Dotson, Office of Genomics and Precision Public Health, Office of Science; Nicole F. Dowling, Division of Cancer Prevention and Control, National Center for Chronic Disease Prevention and Health Promotion; & Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, GeorgiaTags

A 2020 Reality Check on the Public Health Impact of Cancer Genomics and Precision Medicine

cancer cells with DNA and a crowd of people running and fresh fruits and vegetables

“Precision oncology has had some major successes… And yet, the overall effect of precision medicine on care for patients with cancer has been modest.” (David Cutler, JAMA Health Forum, 2020) The Promise of Genomics and Precision Medicine in Reducing the Burden of Cancer In 2015, the United States launched the Precision Medicine Initiative (PMI) “to Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science and Juan Rodriguez, Division of Cancer Prevention and Control, National Center on Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia

Study of Children with One vs. Two or More Siblings with Autism Spectrum Disorder: Expected and Unexpected Similarities and Differences

Millennial generation Family relaxing in living room. Father using a digital tablet with his son and his little austim girl

A recent prospective study from the Baby Siblings Research Consortium found that children with two or more siblings with autism spectrum disorder (ASD) were more than twice as likely to be classified as having ASD at age 3 than children with only one sibling with ASD. The Consortium was formed to facilitate prospective studies of Read More >

Posted on by Ridgely Fisk Green, Carter Consulting, Inc. and Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention; Aimee A. Alexander, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and PreventionTags

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 PreventionTags ,

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, GeorgiaTags ,

“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 InstituteTags ,

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, GeorgiaTags ,

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, GeorgiaTags , , ,