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

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Selected Category: genomics

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  http://genomicsforum.org/editoruploads/ActionstoSaveLivesNowReport.pdf 

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”.

What Gets Measured Gets Done: Genomics, Surveillance Indicators and Healthy People 2020

Categories: genomics

Katherine Kolor, Office of Public Health Genomics, Centers for Disease Control and Prevention

graphPublic health surveillance indicators, such as those developed for the Healthy People initiative are useful for monitoring the development of genomic medicine in the United States. For several decades, Healthy People has established health benchmarks that are considered important metrics for tracking progress in health and healthcare in the United States.

Now Watch This: Genomic Epidemiology

Categories: epidemiology, genomics, whole genome sequence

Staphylococcus aureus bacteria

Staphylococcus aureus bacteria

Late last year, Science magazine published a list of six Areas to Watch in 2012. Number 6 on the list, NASA’s Curiosity rover, recently touched down on Mars. The Higgs boson (#1) has been found, faster-than-light neutrinos (#2) have been debunked, and further developments on stem-cell metabolism (#3) and treatments for intellectual disability (#5) are in progress.  

Now genomic epidemiology (#4) is approaching the public health launch pad. As Science’s editors predicted, pathogen genome sequences are being used to “determine quickly where newly emerging diseases come from, whether microbes are resistant to antibiotics, and how they are moving through a population.”  

Evidence Matters in Genomic Medicine- Round 2: Integrating Cancer Genomic Tests

Categories: evidence-based medicine, genomics

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

stacked boxes with letteringIn a previous blog, CDC’s Office of Public Health Genomics announced a list of health-related genomic tests and applications, stratified into three tiers according to the availability of scientific evidence and evidence-based recommendations as a result of systematic reviews.  The list is intended to promote information exchange and dialogue among researchers, providers, policy makers, and the public. We have updated the list to include tests that have been discussed in a recent article by the National Comprehensive Cancer Network (NCCN). For these tests, we have considered NCCN recommendations and other evidence-based reviews, reports or assessments from Blue Cross Blue Shield Association Technical Evaluation Center (TEC) and guidelines from the National Institute for Health and Clinical Excellence in the placement of individual tests within the OPHG tier list. 

Think After You Spit: Personal Genomic Tests May Offer a Teachable Moment

Categories: genomics, personal genomics

Katherine Kolor, Office of Public Health Genomics, Centers for Disease Control and Prevention

Patient is showing physician her DTC genetic test resultsPersonal genomic tests are now widely available and sold directly to consumers, but population-based data are limited on awareness, use and impact of these tests. In collaboration with 4 state public health genomics programs, we have recently reported  on consumer awareness and use of personal genomic tests using the 2009 Behavioral Risk Factor Surveillance System. Awareness of personal genomic tests ranged from 15.8% in Michigan to 29.1% in Oregon. Factors associated with increased awareness include higher education, higher income, and increasing age (up to age 75 years). Awareness is greater in this study compared with a similar survey conducted in 2006. Although less than 1% of respondents had used these tests, we estimated that between 200 thousand and over 1 million people have undertaken these tests in the US, with about one-half of them sharing the results with a health-care provider.  These data indicate a potentially “teachable moment” for consumers and health care providers to engage in a dialogue on improving health and preventing disease using these tests as a starting point for discussion.

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