Genes and Health

CDC Foundation Helps CDC Build Initiative to Translate Gene Discoveries into Public Health Benefits

All people are 99.9 percent identical in genetic makeup. The differences in the remaining .1 percent of our genetic blueprint give one person green eyes and another blue. Those differences also may put some people at greater risk of developing cancer...or heart disease...or Alzheimer’s.

Since the completion of the Human Genome Project, researchers have made strides in understanding the links between complex variations in thousands of human genes and disease.

“We are truly at the cusp of a new era in public health in the 21st century,” says Muin J. Khoury, M.D., Ph.D., director of CDC’s National Office of Public Health Genomics. “There is vast potential for genomics to change the practice of public health.”

Khoury leads CDC’s National Office of Public Health Genomics, which works to integrate genomics into public health research, programs and policy to help promote health and prevent disease. The office, which consisted of two people in 1997, celebrates its 10th anniversary this year with more than 50 staff members representing various disciplines, including genetics, public health, epidemiology, policy, health communications and economics.

Genetics vs. Genomics:
What’s the difference?

Genetics is the study of inheritance, or the way traits are passed down from one generation to another. Genes carry the instructions for making proteins, which in turn direct the activities of cells and functions of the body that influence traits such as hair and eye color.

Genomics is a newer term that describes the study of all the genes in a person, as well as interactions of those genes with each other and with that person’s environment. The study of genomics is likely to help doctors and other health care professionals understand why some people get sick from certain infections, environmental factors, and behaviors while others do not.

“The whole multidisciplinary field of public health genomics didn’t even exist before our office was created,” says Khoury. “Over the last 10 years, we’ve raised awareness in the public health community and we have developed a number of major initiatives that, together, can begin to close the gap between the science of gene discovery and our ability to use this information to improve the population’s health.”

Beyond Gene Discovery

The CDC Foundation is helping CDC build a major new initiative called Beyond Gene Discovery (BGD) to learn more about the connections between gene variants and disease and to determine the extent to which a gene-disease connection may affect the population overall. The Foundation is hosting a number of meetings and conference calls among experts and potential funders to advance the initiative and bring important partners on board.

“BGD is an exciting opportunity for a diverse array of organizations, from both the public and private sectors, to collaborate with CDC on a project with the potential to improve health in new and important ways,” says Charles Stokes, president and CEO of the CDC Foundation.

One of the initial goals of BGD is to enable CDC to collaborate with a range of partners to analyze, from a genomics perspective, data collected through CDC’s National Health and Nutrition Examination Survey (NHANES), a national survey conducted each year that provides a snapshot of the health and nutrition of the U.S. population. NHANES is a diverse and comprehensive data set that is teeming with possibilities for genomics researchers. NHANES is designed to represent the entire U.S. population without excluding or under-representing any racial or ethnic group. NHANES is also unique in that it combines data from both physical examinations and interviews about lifestyles and behaviors. So for each person surveyed, NHANES captures a DNA sample, metrics such as blood pressure and body mass index and information about lifestyle factors such smoking habits, occupation and diet.

Results from an expanded analysis of NHANES as proposed by the BGD initiative could provide new insights into why some people, but not others, get sick from certain infections, environmental exposures and behaviors. For example, recently researchers identified at least 10 genes that influence an individual’s risk of developing diabetes, but not everyone who carries one or more of these genes actually has diabetes. The proposed research could help determine what combination of behaviors or environmental exposures interact with specific genes to spark the actual development of the disease.

Once a meaningful connection is established between a gene and a disease, BGD partners hope to be able to use NHANES data to determine the percentage of the U.S. population who may be at risk and the extent to which different racial or ethnic groups may be disproportionately affected.

“We’re trying to figure out the prevalence of genetic variants by racial and ethnic groups, and learn how these variants relate to important health parameters of the U.S. population,” says Khoury. “It’s an extremely rich project.”

Exploring the Health Implications of Your Family Tree

The BGD initiative is just one of many ways CDC’s National Office of Public Health Genomics is translating gene discoveries into public health benefits. Other programs focus on integrating genomics into health care practice. For example, CDC is actively promoting the important role of family history in determining risk and preventing disease.

“We all have a family history, yet we rarely know how to use it to improve our own health,” says Khoury. “Through CDC’s Family History Public Health Initiative, we’re increasing awareness of family history as a major risk factor for chronic diseases such as cancer, diabetes and heart disease.”

As part of the initiative, the U.S. Surgeon General’s office now offers My Family Portrait, a free Web-based tool developed in collaboration with CDC and other agencies to help people organize and share their family history information. “Now we’re doing a clinical trial to evaluate what happens when people learn their family history for different diseases such as heart disease, diabetes and cancer,” says Khoury. “Will they make appropriate changes in their lifestyle and seek medical interventions as a result?”

Ensuring Genomics Tests are Ready for Prime Time

Another CDC program, called Evaluation of Genomics Applications in Practice and Prevention (EGAPP), helps to further the safe, effective and appropriate use of genetic testing. “Right now, you can buy your entire genetic profile over the Internet for about $1,000,” says Khoury. “However, premature or inappropriate use of genetic tests can lead to misdiagnosis and ineffective and confusing interventions. It’s CDC’s job to be an honest broker of information on genomics applications. We want to empower the public, health providers and policy makers by informing them about what is known and what is not known about these new applications, and help to assess ‘what’s ready for prime time’ – and what’s not ready – when it comes to genomics and public health.”

Incorporating Personalized Medicine into Public Health

“We’re still in the early days of the integration of genomics into public health,” says Khoury. “If you think about genomics, it’s really individual – we’re all unique – while public health is about the population as a whole. So there is a learning curve for how these two worlds can meet and interact synergistically. Our office continues to be at the forefront of this new wave of science, and we’re all excited to work across CDC programs and with outside partners to evaluate how best to use this new science to improve the public’s health.”

To learn more about the Beyond Gene Discovery initiative, contact Julie Rodgers, director of public-private partnerships, JRodgers@cdcfoundation.org. For information about CDC’s National Office of Public Health Genomics, visit www.cdc.gov/genomics.