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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.

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Family health history is a non-modifiable risk factor—or is it?

Categories: family history, genomics

Ridgely Fisk Green,Office of Public Health Genomics, Centers For Disease Control and Prevention

a family biking

“I met three different women who had been tested [genetic testing for mutations in the BReast CAncer susceptibility (BRCA) genes] early on, in 1996, when the BRCA test first came out. They told me their family history story of mothers, aunts, uncles, and a dad who suffered from breast or ovarian or related cancers, and it was heartbreaking. But then the story changed with them. They were diagnosed with cancer, they got testing, and they shared this information with their family members. So they had stories of children and grandchildren—one woman even had great grandchildren—who were old enough to decide whether or not they wanted to be counseled and some decided to get testing. Many did not carry any of the mutations in the family, and others did. And those who found out that they were a mutation carrier, they had actual things to do. And none of them—none of those family members as we cascade down—have died of cancer.” Summer Lee Cox, Oregon Public Health Division

Every Cause Needs a Champion: Jean Chabut as a Public Health Genomics Pioneer

Categories: genomics

Scott Bowen, Office of Public Health Genomics, Centers For Disease Control and Prevention

Cham·pi·on noun \ˈcham-pē-ən\: someone who fights or speaks publicly in support of a person, belief, cause, etc. 

Most public health programs can point to a key person or group who was instrumental in assuring not only the program’s successful introduction but also its long-term viability. Jean Chabut was that champion for public health genomics in Michigan. First as the state chronic disease director, and later as deputy director for public health at the Michigan Department of Community Health, she took a keen interest in the role of genomics in public health, then a bold new concept. Jean was ahead of her time in many ways. When Michigan was starting its public health genomics odyssey in the late 1990’s, a formal framework to evaluate the evidence of genomic applications did not exist. However, as a nurse and forward-thinking public health administrator, Jean believed that family history and genetics would one day be very important for improving population health. From 2003-2008, she took on the role of project co-director for Michigan’s genomics cooperative agreement and worked with 3 other states to provide early insight into the integration of genomics into public health. She insisted that staff positions funded by the grant be established as permanent civil service jobs rather than as temporary contractual positions, a move that would signal greater integration and sustainability within the health department. She also established an internal Genomics Work Group to provide a forum for regular discussion of family history and other genomics developments, encouraging involvement from all chronic disease programs. Jean also enthusiastically supported a “Six Weeks to Genomics Awareness” lunch and learn series open to all MDCH staff. Always willing to listen and lend her influence to whatever needed to be accomplished, Jean was eager to learn how genetics could be fully integrated into public health programs, providing support to her Genomics Team from the top down.

Public Health Approach to Big Data in the Age of Genomics: How Can we Separate Signal from Noise?

Categories: genomics

Picture1

Figure 1: The Big Data Cloud

The term Big Data is used to describe massive volumes of both structured and unstructured data that is so large and complex it is difficult to process and analyze. Examples of big data include the following: diagnostic medical imaging, DNA sequencing and other molecular technologies, environmental exposures, behavioral factors, financial transactions, geographic information & social media information. It turns out that Big Data is all around us! As Leroy Hood once commented, “We predict that in 5 to 10 years each person will be surrounded by a virtual cloud of billions of data points” (see figure 1). Genome sequencing of humans and other organisms has been a leading contributor to Big Data, but other types of data are increasingly larger, more diverse, and more complex, exceeding the abilities of currently used approaches to store, manage, share, analyze, and interpret it effectively. We have all heard claims that Big Data will revolutionize everything, including health and healthcare.

Outsmarting Antimicrobial-Resistant Pathogens

Categories: 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.

Epigenetics and Public Health: Why We Should Pay Attention

Categories: epigenetics, public health

Muin J. Khoury, Office of Public Health Genomics and Krista Crider, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention

In September 2014, one of us (MJK) spoke on the topic of epigenetics at the Annual Meeting of the Association for State and Territorial Health Officials (ASTHO). ASTHO is a national organization representing public health agencies in the United States. ASTHO members formulate and influence public health policy and practice. In the midst of a busy agenda, state health officials were interested in learning about epigenetics as a new and evolving area for public health practice. Why is that?

At the CDC Office of Public Health Genomics, we have been tracking the progress of genomics and related fields and their impact on clinical practice and disease prevention. In our evidence-based table and recent highlights of the year, we have mentioned an increasing number of genomic tests and applications for which evidence-based recommendations exist and can save lives today. Epigenetics so far has not made it on the list!

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!

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