Centers for Disease Control and Prevention Centers for Disease Control and Prevention CDC Home Search CDC CDC Health Topics A-Z site search
National Office of Public Health Genomics
Centers for Disease Control and Prevention
Office of Genomics and Disease Prevention
Site Search

Message from Muin J. Khoury M.D., Ph.D., Director
National Office of Public Health Genomics

August, 2001
arrow More about the Office
border corner spacer spacer
spacer     spacer
spacer spacer spacer

Muin J. Khoury video
video camera view video

Welcome to the world of genetics and public health.

Today, there is quite a bit of excitement about human gene discoveries and the Human Genome Project. In February 2001, the initial analysis of the human genome sequence was published.  Soon, we will know the sequence of the 50,000 or so human genes. Already, more than 12,000 of these genes have been discovered in relation to many diseases, and more than 800 genetic tests are available.
The public health impact of the human genome revolution is truly staggering.  Nine of the top 10 leading causes of death, most notably chronic diseases such as cancer and heart disease, have genetic components resulting from the interaction of genetic variation with modifiable risk factors. A large fraction of children's hospitalizations are due to diseases with strong genetic components.  The good news is that there are interventions that can save lives and prevent disease. For example, about 1 million people have premature heart disease due to a disorder of cholesterol metabolism. Up to half of these cases are not diagnosed early or properly treated, and yet we can prevent early morbidity and mortality.  Another one million people have hereditary hemochromatosis, an iron overload disorder that can result in premature morbidity from numerous chronic diseases. We suspect that a large proportion of these cases are not diagnosed early, yet they are also preventable.  We need to assure that when interventions do exist, they are delivered and are effective, especially for our underserved populations.

The public health community is asking the simple question, "The human genome is mapped: now what?"  Clearly, the impact of these discoveries on the health and well being of the U.S. population has not been evaluated. How do we ensure the laboratory quality of genetic testing, the appropriateness and utility of genetic information in preventing disease and improving health, and the training of the workforce to meet growing demands?  Premature or inappropriate use of tests can lead to misdiagnosis; ineffective and confusing interventions; and a host of ethical, legal, and social issues. We simply cannot wait.  

There are many examples of the emerging role of genetics in health policy.  Examples of such issues include what should be on the newborn screening panel as technology is allowing us to test for an increasing number of conditions such as cystic fibrosis and disorders of fatty acid oxidation.  In addition, there are important issues regarding the use of genetic information, including family history, in modifying our public health campaigns for chronic diseases such colorectal screening and prevention. Another example is the use of genetic tests in predicting women's risk of developing venous thrombosis after oral contraceptive use. This last example is just one scenario of what lies on the horizon regarding the brave new world of pharmacogenomics.

An important challenge for genomics and public health in the next decade is to develop the road map for integrating genetics into disease prevention and health promotion programs. Ultimately people die from diseases and not from genes. We need information, information, and more information!    We need to collect, analyze, and disseminate population-level information on the prevalence of gene variants, disease burden, and gene-environment interaction.  We also need to evaluate genetic tests and the utility of genetic information. The ultimate challenge is to determine the benefits of using genetic information to target interventions that improve health and prevent disease.  The obvious issues are why, how, and when we should change our traditional public health-oriented interventions to become more targeted on the basis of individual differential susceptibilities to disease.

I see three top priorities for genomics and public health over the next few years. The first priority is to evaluate the validity, utility, and impact of genetic information (such as genetic tests and family history data) in preventing disease and improving health. The second priority is to integrate genetics into public health research (including epidemiologic research, policy and communication research, and health services research). This research  will begin to close the information gap between gene discoveries and our ability to use genetic information to prevent disease and improve health. The third priority is to develop the public health capacity to use genetic information at the state and community levels through strategic planning, competency-based training, and technical assistance.

In closing, public health has barely begun to address the impact of the genetics revolution. We must begin to link laboratory genetic discoveries with appropriate population-level assessments and policies about the use of genetic information.  Genetics in the 21st century is about all diseases, not just genetic diseases. Therefore, the new genetics will eventually change the face of public health by focusing interventions on individuals and groups who will benefit the most from behavioral modification, drug therapies and other approaches to risk reduction.  Genetics, like epidemiology and surveillance, is now a fundamental tool of public health that will be integrated into public health programs.


Download a free version of RealPlayer now *You must have RealPlayer to view this video.

Page last updated: December 11, 2007
Content Source: National Office of Public Health Genomics