Genomics and Precision Health Posts

Precision Medicine in Action: How can we make cascade screening for hereditary conditions work best in the real world?

a doctor looking at cascade screening

If someone in your family were diagnosed with a genetic condition, would you want to be tested for that condition as well? For some disorders, like Huntington’s disease, for which there are no means available for prevention or cure, the question can be extremely difficult to answer. However, with many other conditions (for example familial Read More >

Posted on by Swetha Srinivasan and Megan C. Roberts, Division of Pharmaceutical Outcomes and Policy, UNC Eshelman School of Pharmacy, University of North Carolina at Chapel Hill; Nae Yeon Won, Department of Orthopaedic Surgery, University of California, San Francisco; W. David Dotson and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

A Strong Start: Enhancing Newborn Screening for Precision Public Health

a babies foot with next generation sequencing in the background

As the capability to sequence an individual’s genome or exome continues to expand—and the cost continues to fall—more states are considering how next generation sequencing (NGS) could support their newborn screening programs, which test approximately four million babies born in the United States each year for congenital, treatable diseases. Results from NGS can help enhance Read More >

Posted on by David Jones (CDC), Stephanie Garcia (ONC), Nicole Ruiz-Schultz (Utah), Amy Gaviglio (4ES), Carla Cuthbert (CDC)Leave a comment

How Accessible Are Genetics Providers and How Can Access Be Increased?

The increase in clinical genetic testing, as well as direct-to-consumer testing, means a growing demand for genetic counseling services, which are often provided by genetic counselors. If patients are referred for genetic counseling, what barriers might they face in accessing these services? How can genetic counselors help address these barriers? Lack of State Licensure Currently, Read More >

Posted on by Tatiana Garrison, Genetic Counseling Training Program Class of 2021, Emory University School of Medicine, Tina Truong, Genetic Counseling Training Program Class of 2020, Emory University School of Medicine, and Ridgely Fisk Green, Office of Genomics and Precision Public Health, CDCLeave a commentTags

Are We Ready for Population Screening for Hereditary Hemochromatosis?

doctor visiting an elderly white man laying in a hospital man with

Hereditary Hemochromatosis (HH) is an inherited iron storage disorder in which the body builds up too much iron, damaging tissues and organs. In most people, HH is caused by two copies of a specific change (mutation) in the HFE gene which is most commonly found in people of European ancestry. In the United States, over Read More >

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Artificial Intelligence, Public Trust, and Public Health

robot

As a data-driven agency, CDC has always had highly skilled statisticians and data scientists. As part of the Data Modernization Initiative, CDC is supporting strategic innovations in data science using artificial intelligence and machine learning (Ai/ML). Ai/ML is the practice of using mathematics with computers to learn from a wide range of data and make Read More >

Posted on by Carlos Siordia PhD, Office of Science Fellow and Muin J. Khoury MD, PhD, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Whole Genome Sequencing (WGS) versus the gonococcus: How CDC scientists are using WGS to beat antibiotic resistant gonorrhea

gonorrhea with a maginfying glass and DNA

Since 1995, when the first high-quality bacterial genome was completed using Sanger sequencing, the number of publicly available bacterial whole genome sequences (WGS) has grown exponentially, due to advances in next-generation (and now third generation) sequencing technology. The first bacteria sequenced using next-generation technologies included very few that cause sexually transmitted infections (STI) like Chlamydia trachomatis, Read More >

Posted on by Evonne Woodson and Brian Raphael, Laboratory Reference And Research Branch, Division of Sexually Transmitted Diseases Prevention, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

The Road Ahead for Genomics Research: From Technology to Population Health Impact

a long road paved with DNA and a person looking at data and groups of people with one person under a magnifying glass

We often reflect on the promise, progress and challenges in the translation of genomics research into population health benefits. A recent commentary in Nature Reviews Genetics featured 12 key scientific challenges and opportunities in the field. Leading scientists took stock of the current state of science and discussed needed research in the next few years Read More >

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a comment

Barriers and Facilitators to Recruiting Study Participants in Host Genomic Studies

a Manhattan plot wiht COVID-19 virus

Host genomic studies play an important part in understanding disease susceptibility, severity, and outcomes. These studies require a minimum number of participants to ensure statistical power. Participation barriers and facilitators must be considered in order to effectively recruit a suitable number and diversity of eligible participants. The COVID-19 host genetics initiative aims to explain the Read More >

Posted on by Madison Dixon, MPH Student, Emory University School of Medicine, and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Precision Public Health and the COVID-19 Response

crowd connected with each other and a person in the middle magnified by a magnifiying glass surrounded by coronavirus

This blog is a summary of our recent paper in the Journal of the American Association. The public health response to COVID-19 requires a mix of general and targeted public health interventions, i.e., precision public health. Precision public health uses data from traditional and emerging sources to target interventions for populations by person, place, and Read More >

Posted on by Sonja A. Rasmussen, Departments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, Florida; Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia; Carlos del Rio, Department of Medicine, Division of Infectious Diseases, Emory University School of Medicine and Hubert Department of Global Health, Rollins School of Public Health, Atlanta, GeorgiaLeave a commentTags

The Long Road to Population-based Genomic Screening

Since 2012, the CDC Office of Genomics and Precision Public Health (OGPPH) has identified three autosomal dominant conditions for which there exist evidence-based recommendations to prevent morbidity and mortality from either cancer or heart disease. Using our evidence-based framework, we have collectively labeled the following conditions as tier 1 genomic applications: 1) hereditary breast and Read More >

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia and Michael F. Murray, Clinical director, Center for Genomic Medicine, Yale University School of Medicine, New Haven, Connecticut3 Comments