Genomics and Precision Health Posts

Labs on FHIR: Sharing Genetic Test Results*

Phase 1 through Phase 4 with an image of double helices for Phase 1, a person looking at DNA, a maginfying glass, a microscope and a brain, for Phase 3 a lab worker is shown using a text tube and a pipette, and for Phase 4 a doctor is discussing genetic results with a person

The use of genetic testing is becoming increasingly routine in patient care. For example, tests are available to check newborns for genetic disorders, screen would-be parents for carrier status, inform cancer care, and evaluate potential pharmacogenetic associations. However, the laboratories that perform these tests face many challenges that keep them from being able to return Read More >

Posted on by Allison Dennis; Kevin Chaney; Tracy Okubo and Teresa Zayas Cabán, Office of the National Coordinator for Health Information Technology, Department of Health and Human ServicesLeave a commentTags

2020: A Challenging Year of Progress for Genomics and Precision Public Health

2020 with an arrow to 2021 with a double helix below and a COVID-19 virus and a masked family and under 2021 a person getting the COVID-19 vaccine

It is time to wrap up an eventful 2020 which unfortunately was dominated by the COVID-19 pandemic. From January 2020 through November 2020, we saw a major increase in visits to our website (> 2.6 million views, compared to 2 million views in 2019 and 1.2 million views in 2018). In our year end blog, Read More >

Posted on by Muin J. Khoury and Scott Bowen, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags

Genomic Medicine Year in Review 2020: Population-wide Implementation Research Has Arrived

Genomic Medicine - af figure looking at 2020 with a magnifying glass and a double helix

Advances in genomic medicine continue at a steady pace. In a December 2019 paper, The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) identified 10 papers with the most significant advances in the field. In our 2019 end of the year blog. we featured 5 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 commentTags

15 Years of Genome-wide Association Studies: What’s the Public Health Impact?

GWAS plot with figures above and 2005 with an arrow to 2020 in the foreground

Genome-wide association studies (GWAS) test thousands or millions of genetic variants scattered throughout the human genome for association with human traits or diseases. GWAS burst onto the scientific scene in 2005 and have been enabled by technological advances and falling prices. A recent commentary in Nature Communications summarized the state of the science: To date, Read More >

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

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, Georgia1 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 Health1 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