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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

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public Health1 Comment
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

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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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

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 Comment
Categories genomics, Population screening
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Artificial Intelligence, Public Trust, and Public Health

robot

As a data-driven agency, CDC has always had highly skilled statisticians and data scientists. As part of the Data Modernization Initiative, CDC is supporting strategic innovations in data science using artificial intelligence and machine learning (Ai/ML). Ai/ML is the practice of using mathematics with computers to learn from a wide range of data and make

Posted on by Carlos Siordia PhD, Office of Science Fellow and Muin J. Khoury MD, PhD, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics, public health
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The Road Ahead for Genomics Research: From Technology to Population Health Impact

a long road paved with DNA and a person looking at data and groups of people with one person under a magnifying glass

We often reflect on the promise, progress and challenges in the translation of genomics research into population health benefits. A recent commentary in Nature Reviews Genetics featured 12 key scientific challenges and opportunities in the field. Leading scientists took stock of the current state of science and discussed needed research in the next few years

Posted on by Muin J. Khoury and W. David Dotson, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics

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

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
Categories genomics, Population screening, screening

Toward More Precision in Implementation Science in the Age of COVID-19

Implementation Science with COVID-19

Implementation science (IS) is “the study of methods to promote the adoption and integration of evidence-based practices, interventions, and policies into routine health care and public health settings to improve the impact on population health.” The various factors that must be taken into consideration in designing, conducting, and evaluating IS studies dictate an inherent “precision”

Posted on by Mindy Clyne, David A Chambers, Division of Cancer Control and Population Sciences, National Cancer Institute, Rockville, Maryland and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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Genetic Counseling in the Time of COVID-19

a hand magnifying DNA on COVID-19 with cellphones, tablets and laptops being connected by figures

Genetic counselors play an important role in clinical genetics by helping patients understand their genetic health risks. Due to the COVID-19 pandemic, most clinics and hospitals have restricted in-person delivery of non-essential healthcare services, including genetic counseling, to slow the spread of the virus. However, delaying genetic counseling can be problematic, for example, when genetic

Posted on by Katie Bruder, Genetic Counseling Training Program Class of 2020, Emory University School of Medicine and Ridgely Fisk Green, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genetic counseling, genomics
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Implementation Science to Improve Case Finding, Cascade Screening, and Treatment for Familial Hypercholesterolemia: A Prototype for Precision Public Health Research

a heart being magnified in a body, a FH pedrigree on top of a US map and a heart being listened to wiht a stethoscope

Familial Hypercholesterolemia (FH) is a common genetic disorder, affecting more than 1 million people in the United States. FH causes lifelong high levels of low-density lipoprotein cholesterol, and if untreated, leads to a high risk of premature coronary heart disease. Most patients with FH are undiagnosed or inadequately treated with regular or high-intensity statins, leaving

Posted on by Muin J. Khoury, 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, and Blood Institute, Bethesda, Maryland
Categories genomics
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Communication and Information Sharing about Genomics and Precision Health: Opportunities for Improvement

several hands holding puzzle pieces labeled PHGKb, Genomic Blog, Twitter Posts, Weekly Update, Tiered Evidence, an image of a bullhorn, three people conversing and a magnifying glass. These puzzle pieces are being pushed together to a center piece in red with DNA.

In this blog, we describe our current approach to information sharing based on a recent review of our communication and engagement strategies. In order to improve our approaches to communication, we are asking you, our readers, for feedback—please share your thoughts in the comments section below or send us an email at mailto:genetics@cdc.gov. For the

Posted on by Caitlin G. Allen, Ridgely Fisk Green and Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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