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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

Evidence Matters in Genomic Medicine- Round 4: Where are we with Pharmacogenomic Tests?

Categories: genomics, pharmacogenomics

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

open pill with a double helix inside

Previously, 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 and systematic reviews. The list is intended to promote information exchange and dialogue among researchers, providers, policy makers, and the public.

Initially the table relied on generalized examples of how genomic applications could be classified among tiers. We planned to expand it, however, populating it with specific examples. The table grew quickly, and previous blogs describe the addition of specific cancer genomic tests and family history applications. Then we moved on to include pharmacogenomics tests in the table and that’s where things got really interesting!

Reconciling the future of genomic medicine with its current reality: how do we get there from here?

Categories: genomics

The Future of Genomic Medicine VII poster

On March 5-6, 2014, I attended the 7th annual Future of Genomic Medicine (FoGM) conference [PDF 778.13 KB], hosted by Dr. Eric Topol at the Scripps Translational Science Institute. The audience included more than 500 participants from various fields including genomics, clinical medicine, laboratory medicine, industry, economics, social and communication sciences, patients and the press. The gathering featured a cast of outstanding presenters and panelists including Craig Venter, former Vice President Al Gore, the patient from the future [PDF 778.13 KB] and many others [PDF 778.13 KB]. This was an enthusiastic audience of early adopters who are working tirelessly to make the vision of genomic medicine a reality. 

Public Health Genomics to Save Lives: Available Tools, Actual Examples, Real Success

Categories: genomics, public health

 

Announcing New Tier 1 CDC Public Health Genomics Toolkit and Video Resources

Impact… ScalabilityInnovation… Evidence-based interventions… Surveillance and evaluation… Partnerships… Timely information to health care, the public, and decision makers… CommitmentThese elements are crucial to any public health accomplishment and are recurring themes in 2 new public health genomics resources.

Nearly 2 million people in the United States are at increased risk for adverse health outcomes due to one of the following conditions Lynch syndrome (LS), hereditary breast/ovarian cancer (HBOC), and familial hypercholesterolemia (FH).  Because, at present, these conditions are poorly ascertained by the healthcare system, many individuals and families affected by them are not aware that they are at risk; however, early detection and intervention could significantly reduce morbidity and mortality. Because of their unique ability to partner, facilitate, and provide leadership across the health sector, public health departments have important roles to play in reducing the burden of these conditions.

1. Set Goals by Assessing Data and Available Resources 2. Build Partnerships 3. Conduct Surveillance 4. Provide Info to Policy Makers 5. Make Education Available to the Public 6. Implement Bi-directional Reporting 7. Conduct Surveillance and Assess Results

7 steps for public health to use genomics to reduce the burden of cancer & heart disease

Public health genomics implementation to save lives – from national vision to state success  is a video produced in partnership  with Genetic Alliance featuring prominent public health and health care provider, payer, and patient leaders.  The web available program provides a scope that moves from the national vision for impact to actual achievement in one specific state example: Michigan.  The video includes a primary focus on LS and HBOC and includes specific key steps to be taken, the crucial importance of partners, lessons learned, results, and next steps.

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. 

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.

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