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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.

Newborn screening in the genomics era: are we ready for genome sequencing?

Categories: genomics

Alison Stewart, Office of Public Health Genomics, Centers for Disease Control and Prevention
Ridgely Fisk Green, Carter Consulting, Inc., and Office of Public Health Genomics, Centers for Disease Control and Prevention
Stuart K. Shapira, National  Center on Birth Defects and Developmental Disabilities

a newborn babyRecent advances in next generation sequencing (NGS) could potentially revolutionize newborn screening, the largest public health genetics program in the United States and around the world.  Over the last five decades, newborn screening has grown from screening for one condition (phenylketonuria (PKU)) in one state, to nationwide screening for at least 31 severe but treatable conditions, most of which are genetic.  Each year, thousands of babies in the United States are saved from lifelong disability and even death by timely diagnosis and initiation of treatment. An important aspect of newborn screening is speed; many of the diseases that are screened for are inborn errors of metabolism in which the baby’s body cannot properly break down certain substances in food which can build up to toxic amounts.

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.

What is a “rare disease”? Polio eradication and primary immunodeficiency

Categories: genomics

a child getting the polio vaccine

During the last two decades, surveillance and strategic vaccination campaigns deployed by the Global Polio Eradication Initiative (GPEI) have reduced polio incidence worldwide by more than 99 percent. Wild poliovirus (WPV) cases are now uncommon, with only 222 new cases reported worldwide so far in 2014.* Endemic transmission is now limited to areas of just three countries—Afghanistan, Nigeria, and Pakistan. Of the three WPV strains, only one will remain if, as now seems likely, WPV3 follows WPV2 into oblivion.

The Journal of Infectious Diseases supplement published on Nov 1, 2014, provides an overview of recent progress toward polio eradication, as well as current challenges in surveillance, risk assessment and mitigation, and post-eradication strategies to make sure polio never returns.

In The New Polio Eradication End Game, members of the World Health Organization (WHO) polio team lay out the intricate maneuvers that will be required to eliminate all polioviruses from human populations, including both wild viruses and those derived from oral polio vaccine (OPV).

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. 

Jean Ellen Chabut

Jean Ellen Chabut 1942-2014

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


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.

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