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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

Guidelines We Can Trust are Crucial for the Successful Implementation of Genomic Medicine

Categories: genomics

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

puzzle piece labeled Guide fitting into another piece with DNA

In a previous blog post, Michael Douglas and David Dotson from our office asked the question “So what are health care providers to do today when considering ordering a genomic test to diagnose, prevent or ameliorate a medical condition?” If we set aside the “genomic” bit of this for a moment, and think about how a health care provider might come to a decision about using any kind of medical test, the answer might well be that he or she would look to see whether any professional practice guidelines had been published that were relevant to the clinical situation in which use of the test was being considered.

Public Health Genomics Highlights 2013

Categories: genomics, public health

 

2013 Highlights with DNA string in the backgroundAt the end of each year, we read about top lists of major events, accomplishments, and milestones. These lists are produced by journal editors, institutions and opinion leaders.  CDC is no exception. In December 2013, CDC published its top 5 accomplishments for 2013, which include the Tips from former smokers campaign, outbreak investigations featuring pathogen sequencing and advanced molecular detection, the Million Hearts® initiative, eliminating healthcare-associated infections, and celebrating 10 years of the global program to fight HIV/AIDS. Similar lists in other areas of science and technology have been published (for example, see Science and Nature

Genome Sequencing in the Clinic – The question is not whether the glass is half-full or half-empty but whether or not the glass is the right tool.

Categories: genomics, whole genome sequence

W. Gregory Feero, MD, PhD, Maine Dartmouth Family Medicine Residency

two half full glasses of water - one with DNA inside it and one with DNA next to itEarlier this fall, the Blue Cross Blue Shield Technology Evaluation Center produced a report [PDF 210.52 KB] evaluating the clinical use of exome sequencing in the diagnosis of rare diseases. That this report was even generated is remarkable, as it marks an appreciable level of penetration by exome sequencing into clinical care. A decade ago, sequencing and interpreting even the small portion of the human genome that the exome represents would have been cost-prohibitive. Now, clinical grade exome sequencing with interpretation can be obtained for around $5-10,000. This is still a relatively big price tag but it is well within an order of magnitude of what insurers cover for many diagnostic tests. The Blue Cross report signals that sequencing with next-generation, high-throughput technologies has progressed in the minds of many from strictly a research endeavor into the realm of clinical reality.

When Should We All Have Our Genomes Sequenced?

Categories: genomics, personal genomics, personalized medicine, screening, whole genome sequence

 

a crowd of people with DNA in the foregroundRecently, George Church, a prominent genomics researcher and leader of the Personal Genome Project asked why so few people are opting to inspect their genome. The cost and accuracy of genome sequencing have certainly improved dramatically. He clearly sees the health benefits of whole genome sequencing. He states “we should avoid being judgmental of people who practice genomic modesty or who choose not to act on genome information, but we should also ask if we are providing adequate and equal access to education about the benefits and risks of genome information.”  Will access and education be sufficient to do the job?  Or do we also need additional evidence on the interpretation, utility and value of our genome in health care and disease prevention?

Public Health Genomics in Action: Reducing Morbidity and Mortality from Familial Hypercholesterolemia

Categories: genomics, public health

Discussion Panel at the Familial Hypercholesterolemia Summit

Discussion Panel at the Familial Hypercholesterolemia Summit

In September, 2013, I participated in the International Familial Hypercholesterolemia (FH) Summit  in Annapolis, Maryland. The event was sponsored by the FH Foundation, a patient-centered organization formed in 2011 to raise awareness about the condition and to develop actions for saving lives of patients and families with FH.  The meeting brought together, from the US and around the world, a mix of researchers, patients, industry representatives, state public health programs, and clinical practitioners–including primary care providers and specialists in genetics, cardiology, and lipidology–to develop a public health approach to reduce the burden of FH.

Genetic Epidemiology: What a Difference 20 Years Can Make!

Categories: epidemiology, genomics

Manhattan_Plot

In my introduction to the  textbook Genetic Epidemiology: Methods and Applications just published by Dr. Melissa Austin and colleagues, I commented on the remarkable evolution of the field in the 20 years since I wrote Fundamentals of Genetic Epidemiology with Drs. Bernice Cohen and Terri Beaty from Johns Hopkins University School of Public Health.

Public Health Impact of Genome-Wide Association Studies: Glass Half Full or Half Empty?

Categories: genomics

two half full glasses with chromosomes

Genome-wide association studies (or GWAS) are large-scale genetic investigations of human disease that measure simultaneously hundreds of thousands of genetic variants scattered throughout the human genome. GWAS burst onto the scientific scene in the mid 2000’s. Propelled by technological advances and falling prices, GWAS have revolutionized the search for genetic influences on common diseases of major public health significance. Since 2005, >1,600 publications have identified > 2,000 replicated genetic associations with > 300 common human diseases and traits.

Why We Can’t Wait: A Public Health Approach to Health Disparities in Genomic Medicine

Categories: genomics, public health

Selected Conference Speakers and Organizers; Photo credit: Deneb Semprum

In May 2013, I attended and presented at the “Why We Can’t Wait Conference to Eliminate Health Disparities in Genomic Medicine.”  The conference was organized by the University of Miami and Stanford University, with attendees and speakers from academia, consumer organizations, government agencies, public health, clinical practice, and the private sector. A key rationale for the event is the increasing evidence that the promise of genomic medicine is not being realized equitably, highlighting the importance of dedicated resources and partnerships to address disparities in research and health care (e.g. by race/ethnicity, income and socioeconomic status).

A Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health

Categories: genomics

Karen Greendale, MA, CGC, McKing Consulting, Contractor for the Office of Public Health Genomics, Centers for Disease Control and Prevention

US MapIn recent years, public health programs in several states have used innovative approaches to implement evidence-based genomic testing recommendations in an effort to improve health outcomes for people at increased hereditary risk for breast, ovarian, colorectal and other cancers.  For example, the Michigan Department of Community Health [PDF 1.04 MB] has partnered with payers in their state to extend coverage consistent with the U.S. Preventive Services Task Force 2005 BRCA recommendation to over 6 million Michigan residents.  Connecticut is one of several states where the state health department has used cancer registry data to identify thousands of state residents who might benefit from genetics services for hereditary breast, ovarian, colorectal and other cancers based on evidence-based recommendations. 

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

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