Category: Population screening

The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis

individuals connected with DNA and dollar bills in the background

It is estimated that 3 million people in the United States carry pathogenic variants that increase their risks for heart disease and cancer. If people with such variants are identified, medical interventions are available to significantly reduce morbidity and mortality. However, existing recommendations tend to emphasize family-based or ethnic-specific criteria to determine at-risk individuals for Read More >

Posted on by Nandana D. Rao, Lu Shi, 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 CommentTags ,

Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity

a crowd, a hand holding DNA sequence, three diverse people, and a double helix

Population genomic screening of adults has emerged as a strategy to promote prevention of common diseases such as cancer and heart disease among persons with genetic conditions. This type of screening has the potential to identify millions of currently undetected people in the United States who are at risk of preventable diseases for which evidence-based Read More >

Posted on by Nandana D. Rao, W. David Dotson, 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, GeorgiaLeave a commentTags ,

Population Screening for Rare Pathogenic Variants as the Low Hanging Fruit for Public Health Genomics Across the Lifespan

a family with a tree of DNA with low hanging circles of people and many different hands reaching to them

Rapid advances in human genome sequencing technologies have accelerated the integration of genomics into clinical practice. Genomics has demonstrated clinical utility as a diagnostic tool for certain diseases, but its potential for population screening is still work in progress. In principle, DNA-based population screening can identify persons with rare pathogenic variants who are at high Read More >

Posted on by 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 CommentTags

Population Genomic Screening is Here: We Need Evidence on Health Impact and Optimal Implementation

a population with a double helix and genetic testing

A recent study identified 12 population-based genomic screening programs in the United States and described their implementation logistics and potential health impact. In the past decade, the promise of genomic screening in the general population has garnered increasing interest due to a combination of factors such as enhanced sequencing capabilities, lowered costs of testing, and 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, Georgia2 Comments

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

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, Georgia1 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

Are we Ready for DNA-based Population Screening? The Need for Large Collaborative Pilot Studies

a maginfying glass with DNA looking at a crowd

This blog is a summary of a recent viewpoint published in the Journal of American Medical Association. There is increasing evidence that accepted approaches using medical history-based screening fail to identify the majority of individuals with genetic conditions associated with cancer and heart disease, including CDC tier 1 applications, such as hereditary breast and ovarian Read More >

Posted on by Michael Murray, Yale University; James Evans, University of North Carolina; Betsy Thompson and Muin J. Khoury, Centers for Disease Control and PreventionLeave a comment

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 Read More >

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

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 Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags , ,