Genomics and Precision Health Posts

Happy Thanksgiving 2020: Family and Family Health History Are As Important As Ever

a family of four eating a Thanksgiving meal

This Thanksgiving might not look the same as the ones before it, but some things haven’t changed. Even if you can’t see your loved ones in person, Thanksgiving is still a great time to talk to your family members about your family health history. Having one or more family members with a disease can mean Read More >

Posted on by Ridgely Fisk Green and Muin J Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

Assessing the Value for Money of Using Genome Sequencing in Child Health

children with sequencing in the background and money

If you have a child with a neurodevelopmental condition, such as autism, epilepsy, or unexplained developmental delay, finding a genetic cause for his/her condition can bring peace of mind and avoid what seems like an endless cycle of medical evaluations and tests. The application of next generation sequencing (NGS) methods, including sequencing the protein-coding region Read More >

Posted on by Wendy J. Ungar, Child Health Evaluative Sciences and Technology Assessment at SickKids (TASK), Hospital for Sick Children Research Institute, and Department of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario; Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

A New Vision for Using Genomics to Improve Health: An Expanded Role for Public Health

four text box circles surrounding one circle in the middle with arrows pointing to: circle in the middle: Strategic vision, next circles: guiding principles and values, robust foundation for genomics, breaking down barriers that impede progress, compelling research projects

The National Human Genome Research Institute (NHGRI) recently published a new strategic vision 2020 to identify research priorities and opportunities in human genomics for improving health. The framework includes four main areas: guiding principles and values, a robust foundation for genomics, breaking down barriers that impede progress, and compelling research projects. Since the completion of 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

Genomic Medicine is Here: We Need More Data on Implementation and Outcomes

double helix surrounded by arrows labeled Data

The use of genomic tests in clinical research and practice continues to accelerate in the United States and around the world. For almost a decade, the Genetic Testing Registry (GTR) at the National Institutes of Health has continued to track the growth and development of genomic tests. As of October 28, the GTR lists 76,835 Read More >

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public HealthLeave a commentTags ,

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