Genomics Translation

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The study of genomics will help researchers and health practitioners understand why, in the same environment, some people get sick, while others do not. This information could lead to new and better ways to improve health and prevent diseases in individuals and populations.

A careful, scientific-based process helps to ensure that genomics knowledge and applications are safely and appropriately incorporated into health care and disease prevention practices so individuals and populations can benefit.
Translation research involves many types of research studies, which can take many years to complete. The Office of Public Health Genomics supports and advocates translation research that builds on previous efforts in genomics and other areas in health care and prevention. OPHG promotes four phases of translation research that revolve around developing evidence-based guidelines:

  • Phase 1 (T1) research seeks to move a basic genome-based discovery into a candidate health application (e.g., genetic test/intervention).
  • Phase 2 (T2) research assesses the value of a genomic application for health practice leading to the development of evidence-based guidelines.
  • Phase 3 (T3) research attempts to move evidence-based guidelines into health practice, through delivery, dissemination, and diffusion research.
  • Phase 4 (T4) research seeks to evaluate the “real world” health outcomes of a genomic application in practice.

As researchers learn more, they identify new areas for research and new ways to address diseases and conditions that affect the public’s health.

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The Story of BRCA: An Example of Translation Research

Only a few genomic applications are ready for use in health care practice. One of these applications is the genetic test for breast cancer genes called BRCA1 and BRCA2. Some women carry variations of these genes which may indicate an inherited risk for some types of breast and ovarian cancer. BRCA testing looks for these variations, which in turn can help health care providers understand a person’s risk for getting these cancers.

In 2005, the U.S. Preventive Services Task Force issued guidelines for BRCA testing. The Task Force concluded that BRCA testing may not be right for everyone. They “recommend against routine referral for BRCA testing if a woman’s family history does not suggest an increased risk for harmful BRCA mutations.” The Task Force also “recommends that women with a family history associated with an increased risk for BRCA mutations be referred to suitably trained health care providers.”

Researchers continue to study the awareness and use of these guidelines and BRCA testing among health practitioners and the public for screening, counseling, and treatment practices.

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