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Breaking New Ground in Genomics

Genomics is the study of all the genes in a person, as well as the interactions of those genes with each other and a person’s environment. All people are 99.9% identical in genetic makeup, but differences in the remaining 0.1% hold important clues about the causes of human disease.

Genomics is cutting edge science that provides a more comprehensive understanding of the risks for diseases and helps to strengthen disease prevention activities. During the past decade, CDC has helped establish public health genomics as a multidisciplinary field aimed to ensure effective and responsible translation of scientific discoveries in genetics and genomic applications into health practices for improving the public’s health.

CDC and its partners are integrating genomics into public health research, programs, and policy to help improve interventions that are designed to prevent and control the country’s leading chronic, infectious, environmental, and occupational diseases. CDC efforts include conducting population-based genomic research, assessing the role of family history in disease risk and prevention, and evaluating genetic tests.

CDC established the independent, nonfederal Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group in 2005 to support the development of a systematic process for evaluating genetic tests in clinical practice. Reliable, evidence-based information is needed to help determine which genetic tests are safe and effective and to provide guidance on their appropriate use.

In 2007, the EGAPP completed four CDC-funded reports through an interagency agreement with the Agency for Healthcare Research and Quality:

• Genomic Tests for Ovarian Cancer Detection and Management;
• Testing for Cytochrome P450 (CYP450) Polymorphisms in Adults With Non-Psychotic Depression Treated With Selective Serotonin Reuptake Inhibitors;
• Hereditary Nonpolyposis Colorectal Cancer: Diagnostic Strategies and Their Implications; and
• Impact of Gene Expression Profiling Tests on Breast Cancer Outcomes.

In December 2007, the EGAPP Working Group released the first in a series of recommendation statements that address the use of cytochrome P450 testing in adults with depression who are beginning treatment with a widely prescribed class of antidepressants.

CDC also completed an analysis of data collected through CDC’s National Health and Nutrition Examination Survey to assess the risk of common chronic diseases and conditions in the U.S. population that can be attributed to family health history. CDC found that family history of diabetes has a significant, independent, and graded association with the prevalence of diabetes. People with a family history that puts them in the moderate- or high-risk categories for diabetes were, respectively, 2.3 and 5.5 times more likely to have diabetes than were people in the average risk category. This risk was independent of a person’s gender, race/ethnicity, age, body mass index, hypertension, income, or education.

The study of genomics at CDC is critical to the future of health protection and care through its potential to lead to new and better ways to improve health and prevent diseases for individuals and populations.