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Genomics and Health Impact Blog

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

Selected Category: genomics

Outsmarting Antimicrobial-Resistant Pathogens

Categories: antimicrobial resistance, genomics

Marta Gwinn, Consultant, McKing Consulting Corp, Office of Public Health Genomics, Centers for Disease Control and Prevention & Clifford McDonald, Division of Healthcare Quality Promotion, NCEZID, CDC

The evolution of antibiotic resistance in bacteria is occurring at an alarming rate and is outpacing the development of new countermeasures.

White House Office of Science and Technology Policy, September 18, 2014

bacterial culturesIn the contest between humans and pathogens, each faction has an evolutionary advantage: we have the brains to plot antimicrobial strategies but they have the means to defeat them through rapid reproduction, genetic selection, and recombination. Pathogens act faster, so we have to act smarter.

CDC’s recent report on antibiotic resistance threats estimated that 2 million people each year are infected with antibiotic-resistant bacteria and 23,000 die as a result. This month, the White House issued a new National Strategy on Combating Antibiotic Resistant Bacteria [PDF 481.02 KB]. CDC is working with state, national and international public health partners to address this threat through a combination of preventive strategies, stronger surveillance, and use of innovative diagnostic tests.

Suicide, Family History, and Genomics

Categories: family history, genomics

Scott Bowen, OPHG and Brad Bartholow with National Center for Injury Prevention and Control, CDC Staff

We must continue to search for new methods to effectively address the tremendous problem of suicide. Despite recent interest, genomics does not provide the solution today, but there is a lot that we can do now using an established public health approach to prevention.


Millions were shocked by the news that comedian Robin Williams had died by suicide. The star is remembered for more than just his energetic roles but also his work to help charitable causes and to entertain U.S. troops abroad. But the joy he gave to others stood in sharp contrast to the challenges he faced in his own life: depression, addiction, and more recently Parkinson’s Disease. The revelations brought many to contemplate what more could be done to identify the risks and prevent suicide and what hope, if any, emerging fields of science like genomics might offer.

Robin Williams speaks to troups

Is Genomics Widening the Schism Between Medicine and Public Health?

Categories: genomics, public health

Grand Canyon

In 2007, we published a paper entitled: “Will genomics heal or widen the schism between medicine and public health?” We explored the long standing split between medicine and public health and how the emergence of genomics and other technologies can affect it. The “schism” was identified by Kerr White in his 1991 book in which he described a growing gap between individual- and population-based approaches to improving health in the 20th century. Kerr stated “today, the two cultures “medicine and “public health” seem to live in different, often unfriendly worlds”. Advances in genomics are fueled by the investigation of biological mechanisms of disease, leading to personalized treatment. On the other hand, public health emphasizes the study of environmental and social influences on health and disease, focusing on health promotion and disease prevention.

Nobody is average but what to do about it? The challenge of individualized disease prevention based on genomics

Categories: genomics, personal genomics, prevention


Nobody is Average- a normal distribution curve with figures inside it and DNA as the curveEach week, Garrison Keillor shares with National Public Radio listeners the latest news from Lake Wobegon where “all the women are strong, all the men are good looking, and all the children are above average.” The concept of “average” is deeply rooted in our scientific analysis of all health related traits such as height, weight and health indicators (such as blood sugar, cholesterol) and in assessing the likelihood of developing  disease.  There are several ways to measure average such as mean, median and mode that reflect different approaches towards evaluating central tendencies.  For every characteristic, we graph the distribution values in the population (e.g. the Normal distribution, see figure) and quantify averages and variation in values in the “population” and its various subgroups.  

Geography, Genetics and Leading Causes of Death

Categories: genomics


a mortality map of the US with secuencing in the backgroundIn the United States, the 5 leading causes of death are heart disease, cancer, chronic lower respiratory diseases, cerebrovascular diseases (stroke), and unintentional injuries. On May 2, 2014, the Centers for Disease Control and Prevention released an MMWR report on the annual number of potentially preventable deaths from these 5 causes in the United States. The data suggest that at least a third of those deaths every year are potentially preventable.  The analysis compared the number of observed deaths in each state with an expected number that is based on average death rates for the three states with the lowest rates for each cause.  States in the Southeast had the highest number of potentially preventable deaths.  Therefore, potentially a large health impact may be achieved if states with higher rates were able to reduce the prevalence of risk factors for leading causes of death to the average of the three lowest states.   Nevertheless, press coverage of this important report tended to sensationalize and overinterpret the results of these types of analyses with statements like “Living in the Southeast is bad for your health”; or “lifespan to do more with geography than genetics”.

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.

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