Category: cascade screening

Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?

a cascade testing pedigree with a scale and a figure with a magnifying glass looking at a question mark

Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. Yet, cascade testing is poorly implemented in clinical practice. For example, there are several genetic conditions with CDC tier 1 evidence-based recommendations for cascade testing, Read More >

Posted on by Mindy Clyne, W. David Dotson, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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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, Georgia
Categories genomics, precision medicine
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Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?

a pedrigree with DNA and crowds

An important component of precision medicine is the identification, through genetic testing, of people who are at elevated risk of disease because of pathogenic germline mutations. Cascade screening involves contacting relatives of patients with certain hereditary conditions to help inform, manage, and identify those who may be at increased risk. A systematic scoping review on Read More >

Posted on by W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention, Megan C. Roberts, Division of Cancer Control and Population Sciences, National Cancer Institute and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention
Categories precision medicine
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Cascade Screening for Familial Hypercholesterolemia in the United States: Public Health Impact and Challenges

a predigree with hearts on a US map

This post is a summary of our recently published paper in JAMA and outlines the public health impact and challenges for cascade screening for Familial Hypercholesterolemia (FH) in the United States.   What is the public health impact of cascade screening for FH? FH is a dominantly-inherited genetic disorder affecting about 1 in 250 people and Read More >

Posted on by Joshua W. Knowles, guest blogger, Division of Cardiovascular Medicine and Cardiovascular Institute Stanford University, California; Daniel J. Rader, guest blogger, Department of Human Genetics, University of Pennsylvania, Philadelphia, PA; and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control & Prevention, Atlanta, GA
Categories genomics
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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. Read More >

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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