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10 results for newborn screening

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

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, Georgia
Categories genomics, Population screening, public health

Let’s not get too excited about genome sequencing of healthy newborns. Here’s why!

Newborn screening (NBS) is the largest public health genetics program around the world.  Each year in the United States, thousands of babies are saved from lifelong disability and death by timely diagnosis and treatment. While most newborns are screened with biochemical tests that use drops of blood from a heel prick, new advances in genome

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, Jeffrey R. Botkin, University of Utah, Salt Lake City, Utah, and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment
Categories genomics, newborn screening

Implementing Genomics-Based Screening Programs for Healthy Adults: A Proposed Evidence-based Approach from the Genomics and Population Health Action Collaborative

A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults - A National Academy of Medicine Discussion Paper nam.edu/Perspectives with an image of DNA

The following report was developed by the Genomics and Population Health Action Collaborative (GPHAC) as a potential roadmap for groups planning to carry out projects involving genomics-based screening programs in the healthy adult populations. The report is available in its entirety on the National Academy of Science, Engineering and Medicine website. The advent of next

Posted on by Muin J. Khoury and W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics, Population screening, screening
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Can we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation.

a doctor looking into a crystal ball filled with people - he is surrounded by a babies feet with bloodspots and a crowd of people and a stop sign with cancer on it and a stethoscope listening to a heart

On January 30, 2017, CDC held a special workshop to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention6 Comments
Categories genomics, newborn screening, screening
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The Cancer Moonshot, Hereditary Cancers and Population Genetic Screening

Cancer Moonshot with an image of a moon surrounded by DNA and a crowd of people

In September 2016, the Cancer Moonshot Blue Ribbon Panel delivered a report with 10 ambitious recommendations to shape cancer research for the next five years. One recommendation is to “expand use of proven prevention and early detection strategies.” [PDF 199 KB] There is a lot we can do to prevent cancer now— even with no

Posted on by Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, and Lisa C. Richardson, Director, Division of Cancer Prevention and Control, Atlanta, Georgia
Categories cancer, genomics, screening

How Can We Use Genetic Testing in Population Screening for Common Diseases?

People on the street

Scientific and implementation challenges Population screening for disease  is a concept that has been around for many decades. Its main purpose is early detection and treatment of asymptomatic disease, or risk assessment and prevention of future disease, in order to improve health outcomes in individuals and populations. Examples include mammography in breast cancer screening and

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention1 Comment
Categories genomics, Population screening
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From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice

genetic counseling

There are more than 2500 diseases for which genetic testing is currently available. Most of these diseases are individually rare conditions but collectively affect millions of individuals and families worldwide. Genetic diseases are usually caused by mutations in one or a few genes that may confer a high risk of illness, disability and early death.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention1 Comment
Categories genetic counseling, genomics, screening
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Tracking the Contributions of Implementation Science to the Population Health Impact of Genomics and Precision Health: A New Knowledge Base

Original Genomics Precision Health Studies, 2013–2023*

Successful implementation of evidence-based genomic and precision health interventions requires an understanding of what works and what doesn’t work within the context of various clinical and public health settings. Research and evaluation that incorporate implementation science tools and methods into the translation of these interventions facilitate this. Here we present a new CDC knowledge base,

Posted on by Mindy Clyne, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia; Megan C. Roberts, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and Muin J. Khoury, Office of Genomics and Precision Public Health, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment
Categories genomics
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Preventing Disease and Protecting Health Among Individuals at Increased Genetic Risk: A Lifespan Perspective and an Emerging Public Health Challenge

Since the completion of the Human Genome Project, major advances have occurred in the translation of human genome discoveries into clinical practice and disease prevention. As almost all human diseases are due to complex gene-environment interactions, the applications of human genomics should be pertinent to the prevention and control of many diseases, including rare and

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Office of Science, Centers for Disease Control and Prevention, Atlanta, Georgia; Karen Remley, National Center on Birth Defects and Developmental Disabilities, Atlanta, Georgia
Categories genomics
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Public Health Genomics at the Centers for Disease Control and Prevention: Happy 25th Anniversary!

Happy 25th Anniversary! Photos of the people of the Office of Genomics and Precision Public Health through the 25 years

In 1997, in response to the Human Genome Project, the CDC formed the Office of Genetics and Disease Prevention, now called the Office of Genomics and Precision Public Health (OGPPH). This was the beginning of the public health genomics movement in the United States and around the world. Our office continues to serve CDC programs,

Posted on by Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia1 Comment
Categories genomics, public health