Genetic testing: How to really listen to your genes

You’ve heard about it. You may have even done it—at-home genetic tests to determine how much Neanderthal DNA you carry, whether you should drink red wine or white, and to which celebrities you may be related. Many people view this type of information as entertaining and all in good fun. But, what if an at-home test could tell you something medical? What, exactly, are you learning? Spitting in a tube is rather easy, but understanding what you can and, just as importantly, cannot learn from these tests is a bit more elusive.

Having the curious nature that we human beings have, we strive to attribute an understandable cause to the diseases we unfortunately have to deal with. For some reason, knowing why we are affected with a disease can sometimes help us navigate it a little better. It’s tempting to think that all the answers to “why do I have this condition” and “what health problems am I more likely to encounter in the future” are found in our DNA.

While there are most certainly times when answers to those questions can be found through validated, well-understood, carefully interpreted medical genetic tests, there are often times when our knowledge of our DNA is limited, and the pieces simply don’t fit together well enough for us to determine if a medical problem is or is not directly related to a specific genetic change.  Genetic counselors are well-versed in cutting through the noise and helping you understand what, based on sound science, is important to know and act on.

In 2017, the US Food and Drug Administration approved at-home testing (no healthcare provider or prescription necessary) for 10 medical conditions, along with three specific changes in two genes that can increase risk for breast, ovarian, and other cancers. Individuals may choose these tests because they are easy to access, relatively inexpensive, and they have a desire to know limited genetic information about themselves even if they do not have a personal or family history of a particular condition.

Individuals with a strong family history of a particular disease are recommended to have formal genetic counseling prior to testing to ensure that the most accurate, informative genetic testing is chosen. It is important for anyone considering at-home testing to understand the limitations of these at-home medical genetic tests:

  • The presence of a genetic change in many cases does not indicate a 100% chance of developing a condition
  • Results from at-home testing must be validated by a clinical genetics laboratory before being considered actionable, as many cases of misinterpreted results exist
  • Negative results do not mean that the chance of having a particular condition is eliminated.

Let’s confess: We all know of times we have been overconfident in our knowledge. We live in a culture where we feel empowered by YouTube to tackle home improvement projects we clearly had no business doing, consider ourselves experts on investments because we read one article from Google, and can surely run that half marathon next week (after only training by running after the ice cream truck). Don’t let that mentality prevent you from seeking expert advice about genetic testing. Ideally, you want to be aware of what you could learn from medical genetic tests prior to receiving the results. Genetic testing is highly nuanced, and even very intelligent and informed individuals need help understanding the results.

If your concern is about hereditary cancer, GHS has a Cancer Genetics Program that is staffed by three highly-experienced genetic counselors with a wealth of knowledge.  Most cancer is not hereditary, but you can refer to our website at ghs.org/cancergenetics to learn if you should consider genetic counseling. Many insurers pay for genetic counseling and medical genetic testing when there is a documented risk for hereditary cancer.

Even patients who are not covered by insurance for genetic testing can have validated, informative hereditary cancer genetic testing for $250 out of pocket. On the back end, if a true hereditary concern is found through genetic testing, proper management guidelines are discussed and patients can be followed every year to ensure appropriate screening and risk reduction is occurring.

The future is bright for genetic medicine, and genetic counselors want to help you get the information you need to make you and your family’s future just as bright.

Lindsay Metcalf, CGC, is a genetic counselor with the GHS Cancer Institute. To schedule an appointment with a genetic counselor, call (864) 455-1346 in Greenville or (864) 699-5700 in Spartanburg. For more information about genetic counseling at GHS, click here

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