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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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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 with hereditary breast and ovarian cancer; Lynch syndrome and colorectal 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).

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.

Peeling the Pyramid, Scaling the Onion—How to Implement Genomic Medicine

Categories: genomics

pyramid of onion slicesIn spite of the promise of genomics and related technologies for a new era of precision healthcare and disease prevention, only a handful of genomic tests and applications have been recommended for use in clinical practice. Nevertheless, implementation of even the few recommended genomic tests is lagging.  For example, implementing the 2005 USPSTF recommendation on genetic counseling of high risk women for BRCA testing is still not optimal, in spite of years of efforts by health care providers and genetic counselors.  A recent study from a national sample of 14.4 million commercially insured patients shows underutilization of BRCA testing to guide breast cancer prevention among African-American and Hispanic women compared to whites. In addition a recent survey of primary care providers showed that only 19% consistently recognize the family history patterns identified by the USPSTF as appropriate indications for BRCA referral for evaluation. Likewise, implementing the 2009 EGAPP recommendation on testing all new cases of colorectal cancer for Lynch syndrome to reduce morbidity and mortality in relatives is just getting started. Substantial challenges in the healthcare system currently exist in the identification of Lynch syndrome in patients and their affected relatives. A Lynch Syndrome Screening Network was recently launched to accelerate research and  implementation of Lynch Syndrome testing.   

Workings of an Evidence-Based Genomic Panel

Categories: evidence-based medicine, genomics

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

Synopsis of the 24th Meeting of the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group

EGAPP logo

The EGAPP working group (EWG) has held 24 meetings in the 7 years since they were first convened; the latest EGAPP meeting was May 7-8, 2012 on the campus of CDC in Atlanta. Since it is often difficult for interested parties to attend EGAPP meetings, either due to travel or scheduling reasons, we have decided to institute a regular blog to follow each of these meetings which we hope will keep you up to date on what and how EGAPP is doing.

Sharing the Burden of Obesity

Categories: genomics, obesity

world globe balanced on top of a scale including a DNA strand as the equatorOn May 7-9, the CDC Division of Nutrition, Physical Activity, and Obesity, hosted a conference on Weight of the Nation™ in Washington, D.C.  The conference served to highlight progress in the prevention and control of obesity through policy and environmental strategies. The­ Weight of the Nation is also the title of an HBO Documentary Films and Institute of Medicine (IOM) film series that premieres May 14 and 15.

HBO’s The Weight of the Nation website explains that each of the four films in the series will feature “case studies, interviews with our nation’s leading experts, and individuals and their families struggling with obesity.” The first film examines the scope of the obesity epidemic and explores the serious health consequences of being overweight or obese. The second discusses what science has shown about how to lose weight, maintain weight loss and prevent weight gain; the third focuses on obesity in children. The fourth film, titled Challenges, offers a systems perspective on the combined effects of the major driving forces causing the obesity epidemic. These include complex social and environmental factors—such as agriculture, economics, and food marketing; cultural and behavioral factors—such as American food culture and physical inactivity; and evolutionary biology.

Any explanation of the obesity epidemic has to consider both ge

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