Category: genomics

From Genes to Public Health: Building the Evidence Base for DNA-based Population Screening

sequencing with a double helix with figures in the foreground

This blog post is a summary of our recent commentary in Genetics in Medicine. The use of genetics in population screening long predates the Human Genome Project. For more than 60 years, newborn screening has been a successful public health program that has resulted in major improvements in outcomes for infants with genetic and other Read More >

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

Host Genomics and COVID-19: One Year Later

whole genome sequencing and COVID-19

Unprecedented global research collaborations in human genomics provide a model for research in response to a pandemic.   Early in the COVID-19 pandemic, we discussed the role of research on human genetics in the investigation of SARS-CoV-2 infection and outcomes. We now know more about the wide variation in host response, from asymptomatic infection to Read More >

Posted on by Muin J. Khoury, Marta Gwinn, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia and George A. Mensah, Center for Translation Research and Implementation Science, National Heart, Lung, Blood Institute, National Institutes for Health, Bethesda, MarylandLeave a commentTags ,

Applications of Digital Tools for Precision Public Health in the COVID-19 Era: Where Are We?

a COVID-19 virus floating around with digital bites coming out of a laptop

Two recent systematic scoping reviews explore the use and limitations of digital tools in public health surveillance and their applications to the pandemic response Digital health tools offer increasing potential for substantial benefits to medicine and public health. In clinical practice, digital applications include personal wearable devices, devices within the body, and sensors that can Read More >

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

Tier 1 Guidelines on Family-Based Screening for Hereditary Hemochromatosis

Tier 1 Guidelines for Hereditary Hemochromatosis with a photo of a family with adult children

An important function in public health genomics is to identify evidence-based genomic applications that can save lives and prevent disease. In maintaining the PHGKB Tier Coded Guidelines database, we routinely look for Tier 1 applications of genomic testing strategies that have evidence-based guidance supporting implementation in specific clinical scenarios. We only consider recommendations that have Read More >

Posted on by W. David Dotson, Katherine Kolor, Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science; and Scott D. Grosse, National Center on Birth Defects and Developmental DisabilitiesLeave a commentTags ,

mRNA COVID-19 Vaccines: An Incredible Feat of Genomic Technology

In December 2020, less than a year after the SARS-CoV-2 virus was identified, two COVID-19 vaccines manufactured by Pfizer-BioNTech and Moderna were approved for use in the United States under an Emergency Use Authorization by the U.S. Food and Drug Administration (FDA). Never has a U.S. vaccine been developed so quickly, and genome technology made Read More >

Posted on by Joanne Cono, W. David Dotson, Ridgely Fisk Green, and Muin J. Khoury, Office of Science, Centers for Disease Control and Prevention2 CommentsTags ,

How Common is Familial Hypercholesterolemia?

people holding hands with a heart above them in the air

Familial Hypercholesterolemia (FH) is a genetic condition that leads to high blood levels of low-density lipoprotein cholesterol, also known as LDL-C or “bad cholesterol.” Most people with FH have heterozygous FH, meaning they have only one FH-causing mutation, but in rare cases, a person can have homozygous FH, meaning they have FH-causing mutations in both Read More >

Posted on by Frank Swann, Dual MSGC/MPH Class of 2022, University of Pittsburgh Graduate School of Public Health and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

Next Generation Sequencing to Diagnose Primary Immunodeficiency

three children with sequencing in the background

Primary immunodeficiencies (PI) are a group of more than 400 genetic disorders that alter the ability of the immune system to fight off infection and affect 1 out of 1,2001 births in the United States. Patients with PI are at increased risk of recurrent infections, certain malignancies, and death. Initial identification of PI in a Read More >

Posted on by Aditi Kantipuly, Medical Student, McGill University and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and PreventionLeave a commentTags

Public Health Impact of Digital Health: Reinventing the Wheel

a cell phone being held by a stethoscope and a figure looking at the cell phone and thinking about reinventing the wheel

“Digital health has potential to improve health management, but the current state of technology development and deployment requires a “buyer beware” cautionary note.” (Perakslis and Ginsburg, JAMA, 2020) In a recent JAMA viewpoint, Perakslis and Ginsburg summarize the current state of digital health and discuss approaches in evaluating benefits, risks and value of these technologies. 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

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