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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: evidence-based medicine

Celebrating a Decade of Evidence-Based Evaluation of Genomic Tests

Categories: EGAPP, evidence-based medicine, genomics

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

Ira Lubin, Doris Zallen, Dave Dotson, Sheri Schully, Marc Williams, Ned Calonge, Roger Klein, Muin Khoury and Cecile Janssens at the EGAPP meeting

Ira Lubin, Doris Zallen, Dave Dotson, Sheri Schully, Marc Williams, Ned Calonge, Roger Klein, Muin Khoury and Cecile Janssens at the EGAPP meeting

CDC’s Office of Public Health Genomics (OPHG) launched the Evaluation of Genomic Applications in Practice and Prevention Initiative (EGAPP) in 2004. The independent EGAPP Working Group (EWG) celebrated a decade of achievements and accomplishments at their meeting in Atlanta on October 27-28, 2014. The EWG is comprised entirely of volunteers, encompassing multiples areas of expertise who are committed to developing and applying evidence-based methods for evaluation of genomic tests for use in practice. The EWG has published four methods papers, as well as nine recommendation statements addressing genomic testing topics in oncology, psychiatry, cardiovascular disease, and diabetes. A few additional statements are in preparation.

During the past decade, the number of laboratories that offer genetic testing remained relatively flat, however, the number of diseases for which testing is available increased consistently and dramatically. As of November, 2014, there are more than 42,000 tests available for just over 4,000 disorders. In terms of raw numbers, the recommendations from a decade of EGAPP fall drastically short of covering the field. Nevertheless, EGAPP, dubbed by CDC as a pilot initiative, has been enormously influential in prioritizing tests for evaluation, determining what questions need to be asked and answered, and identifying where key crosscutting weaknesses in research must be addressed in genomics.

Is Evidence-based Medicine the Enemy of Genomic Medicine?

Categories: evidence-based medicine, genomics

Alison Stewart Guest Blogger, and Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

hands pulling on DNA with DNA in backgroundA general practitioner recently writing in the BMJ,  said that evidence-based medicine is polluted with “fraud, sham diagnosis, short term data, poor regulation, surrogate ends, questionnaires that can’t be validated, and statistically significant but clinically irrelevant outcomes”, all leading to “overdiagnosis and misery”. In more temperate tones, Goldberger and Buxton recently suggested  in a JAMA Viewpoint  article that personalized medicine and guideline-based medicine “present conflicting priorities”, with evidence-based guidelines derived from clinical trial data failing to recognize the heterogeneity of the patient population to which they will be applied. The existence of these guidelines then acts, they say, as a barrier to the development of personalized approaches that would be more appropriate for different population subgroups – including those likely to gain no benefit from the intervention. 

New Products from the EGAPP Working Group: Further Development of Evidence Review Methodology and More Recommendations in Genomic Medicine

Categories: evidence-based medicine, genomics

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

The independent EGAPP working group (EWG) held its 27th meeting on May 13-14, 2013 via a virtual online venue. The EWG has been very active since the last meeting.  Highlights included:EGAPP logo

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:

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”.

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. 

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.

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