Think After You Spit: Personal Genomic Tests May Offer a Teachable Moment
Categories: genomics, personal genomics
July 26th, 2012 2:35 pm ET - Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention
Katherine Kolor, Office of Public Health Genomics, Centers for Disease Control and Prevention
Our position on personal genomic tests for improving one’s health was expressed in 2011 in a post entitled “think before you spit” and remains largely unchanged. We are still concerned about the limitations of these tests in risk assessment and disease prevention for common diseases, advocate for a better scientific foundation
Since 2011, there continues to be an improvement in technological developments and a proliferation of test offerings directly to the public. In addition, there have been several studies
So what can people who undertake personal genomic testing to improve health and prevent disease do with this information? First, we encourage consumers to have a healthy dose of skepticism about the interpretation of the findings, their probabilistic nature, and their utility for improving their health. With the exception of a few rare genetic variants, the interpretation of the test findings, especially the numbers reflecting individual risk of developing diseases should be viewed cautiously. The meaning of “above average” and “below average” life time risks of disease is still based on incomplete scientific data
Second, we encourage consumers to discuss and share the results of tests with their health care providers, especially in the case of reported mutations with high risk for certain genetic conditions or carrier state for these conditions. Most findings do not merit follow up action by providers in terms of ordering more tests or altering treatments and other interventions. The clinical “actionability”
Third, regardless of what is in the genetic test result, we encourage consumers to seek, collect and validate as much as possible their family health history. The interpretation of genetic risks, especially for rare genetic conditions, could be highly dependent on the presence or absence of family history of certain diseases. There are several available free tools to download for use in family history collection, notably the US Surgeon General my Family Health Portrait
Fourth, there are general disease prevention and health promotion messages that are important, regardless of one’s genetic risk profile, including smoking cessation, physical activity, diet, vaccinations, injury prevention, and infectious disease control. For a complete list of disease prevention and health promotion recommendations, we refer consumers to CDC’s website for updated health-related messages.
Finally, personal genomic tests can offer a unique process for consumers to use a “genomics lens” to learn about determinants of health and disease and to enhance both family and patient-provider interactions. By educating ourselves about the evolving knowledge of genomic and environmental determinants of common diseases and the current limitations of genomics, we can take charge of our own health, broaden our knowledge base, and continuously seek reliable and credible sources of health related information in the midst of tremendous background noise, unsubstantiated claims and rapidly changing science.
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