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Genomics and Health Impact Blog

A blog devoted to discussing best practices and questions about the role of genomics in disease prevention, health promotion and healthcare.


Selected Category: genomics

On Spinning Wheels and Genomes Revealed:

Categories: genomics

Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

Sequencing is No Longer a Sleeping Controversy

sleeping beautyIn the classic Disney version of the fairy tale, Sleeping Beauty is hidden in the woods to protect her from the knowledge of an evil curse… but when she later pricks her finger on a spinning wheel, she falls under a fairy’s spell…

Unlike the mythical magic of centuries old stories, modern science is changing our lives in ways that are anything but fantasy.  Advances in whole genome sequencing (WGS) promise to reveal fundamental information about our risks for various diseases.  By definition WGS includes an enormous amount of data: six billion base pairs in a human’s genome.  Unfortunately, we do not yet know what to do with the great majority of these data points, a fact that will become even more important in the next decade.  For as sequencing technology becomes less and less expensive, it could soon be more economical and practical to simply conduct WGS rather than individual tests that assess one or a few genetic variants.

Implementing Evidence-based Genomics Recommendations at the Intersection of Public Health and Healthcare

Categories: evidence-based medicine, genomics, public health

Jenna McLosky and Debra Duquette, Michigan Department of Community Health
Beverly Burke and Joan Foland, Connecticut Department of Public Health

We take the opportunity of March 22, 2013, designated as Lynch Syndrome Awareness Day by 13 U.S. state governors and counting, to highlight state public health genomics programs that are taking innovative approaches to implement evidence-based genomic testing recommendations for hereditary cancer syndromes, including Lynch syndrome. 

Accelerating the Development of Evidence Reviews and Recommendations in Genomic Medicine

Categories: evidence-based medicine, genomics

W. David Dotson, Office of Public Health Genomics, Centers for Disease Control and Prevention

EGAPP logoThe independent EGAPP working group (EWG) held its 26th meeting on February 11-12, 2013 at the CDC campus in Atlanta. Highlights included:

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

Categories: genomics, Population screening

Scientific and implementation challenges

People on the streetPopulation 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 colonoscopy in colorectal cancer screening. Principles and criteria for population screening programs have been developed by many organizations and have evolved over time. These principles ensure that the benefits of screening programs outweigh potential harms such as overdiagnosis, inappropriate interventions and anxiety.

What’s the Connection Between Polio Eradication and Primary Immunodeficiency?

Categories: genomics

world map comparing polio from 1988 to 2012 from CDC, Global Health - Polio
A Public Health Role for Human Genetics

Two non-profit foundations with distinct missions recently announced that they are joining forces to support polio eradication. The Bill & Melinda Gates Foundation (BMGF) supports global health programs; the Jeffrey Modell Foundation (JMF) advocates for early diagnosis and treatment of  genetic immunodeficiency disorders. How did these organizations find common cause? 

During the last two decades, surveillance and strategic vaccination campaigns deployed by the Global Polio Eradication Initiative have reduced polio incidence worldwide by 99.8 percent. Wild poliovirus cases are now uncommon, with fewer than 250 new cases reported wordwide during 2012. Endemic transmission is now limited to small areas of just three countries—Afghanistan, Nigeria, and Pakistan.

Public Health Genomics: 15 Years On

Categories: genomics, public health

double helix with the number 15
In 2012, the United States and the United Kingdom marked 15 years of public health genomics, a multidisciplinary field that deals with the effective and responsible translation of genome-based science to improve population health. Fifteen years ago, a new era of personalized healthcare and disease prevention seemed only around the corner. However, the promise of the Human Genome Project was mixed with unrealistic expectations. The “genomics revolution” was expected to be applied in the very near term to broad segments of the population. The public health genomics community called for a scientific approach to explore the balance of benefits and harms of the new science in both clinical and population health applications. Simultaneously, an international collaboration developed a road map for integration of emerging genomic technologies into health practice. A major achievement for public health genomics has been an enhanced dialogue among the basic, clinical and public health-related scientific communities. Public health genomics also has begun to prepare the workforce for integrating new tools in practice and for integrating genomics in public health’s essential functions of assessment, policy development, assurance and evaluation.

From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice

Categories: genetic counseling, genomics, screening

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. Immediate relatives of affected people can be at highest risk for these diseases.   Rapid advances in genomics, including whole genome sequencing, are leading to more accurate diagnosis, early detection and carrier testing for these diseases.  Genetic counseling provides information for decision making by affected people and their families. 

New Strategies For Public Health Genomics Beyond Newborn Screening

Categories: evidence-based medicine, family history, genomics, public health

Karen Greendale, Office of Public Health Genomics, Centers For Disease Control and Prevention

A Working Meeting and an Action Plan
to Save Lives Now

Nearly 2 million Americans are affected by one of three genetic conditions with a strong risk of early morbidity and mortality: BRCA 1/2 and hereditary breast and ovarian cancer; Lynch syndrome and colorectal , endometrial and ovarian cancer; and familial hypercholesterolemia and early cardiovascular events.  At present these conditions are poorly identified by the healthcare system but evidence based recommendations are available to prevent disease and improve health.    

Opening speaker, Dr. Ursula Bauer Director, NCCDPHP discusses a point later in the day with Dr. Khoury, OPHG Director

Opening speaker, Dr. Ursula Bauer Director, NCCDPHP discusses a point later in the day with Dr. Khoury, OPHG Director

On September 7, 2012, eighty experts and stakeholders representing federal, state and local public health agencies, clinicians, key advocates and community leaders came together at CDC’s Roybal headquarters in Atlanta to develop a plan to use evidence based “Tier I” interventions to reduce morbidity and mortality from these three conditions.  The event was organized by the CDC Office of Public Health Genomics (OPHG) with help from the University of Michigan Center for Public Health and Community Genomics, Genetic Alliance, and a multi-disciplinary planning committee. The full meeting report is published on the Genomics Forum website and is available for   download at 

Evidence Matters in Genomic Medicine—Round 3: Integrating Family Health History into Clinical Preventive Services

Categories: evidence-based medicine, family history, genomics

Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

stacked boxes with pedigreeA new podcast from the CDC Expert Commentary Series on Medscape—Family Health History: Use It to Inform Preventive Services for Your Patients— describes how family health history can inform the delivery of preventive health services.   The podcast presents three case studies based on recommendations of the US Preventive Services Task Force (USPSTF):  screening for lipid disorders in adults, colorectal cancer screening, and BRCA genetic counseling and evaluation.  Each case study demonstrates how family health history can be used to define a population subgroup whose increased risk could warrant more intensive preventive intervention.  Family health history—which reflects the effects of genetic and environmental risk factors shared within families—has been called the “first genetic test.”

More Workings of an Evidence-Based Genomic Panel: Modernizing the Evidence Review Process

Categories: evidence-based medicine, genomics

Michael P. Douglas, Office of Public Health Genomics, Centers for Disease Control and Prevention

EGAPP logoThe independent EGAPP working group (EWG) held its 25th meeting on September 10-11, 2012 at the CDC campus in Atlanta. Highlights included:

  • Three EWG recommendation statements on the validity and utility of genetic tests are pending publication on:
    • KRAS, BRAF and other markers involved in EGFR signaling, which are used to inform choice of therapies for metastatic colorectal cancer, recently submitted to Genetics in Medicine;
    • Risk assessment for type 2 diabetes, in pre-submission peer-review; and
    • SNP panels for prostate cancer risk assessment (based on a recently completed evidence review by investigators at the McMaster University AHRQ Evidence-based Practice Center), currently being finalized.
  • The Knowledge Synthesis Center (KSC) will conduct systematic reviews on familial hypercholesterolemia and colorectal cancer screening – the latter topic is being done in conjunction with modeling by NCI/CISNET .
  • The KSC is developing a manuscript for publication on methods and considerations for “binning findings from whole genome sequencing”.

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