What Is Genetic Testing? Understanding the Process and Its Results

  • Published on:  11/14/2019
  • Genetic testing consists of examining the DNA for any changes that may affect your health. The test itself is a simple blood draw, but interpreting those results and translating them to clinical recommendations requires the expertise of a genetic counselor. Martha Thomas, MS, discusses the reasons for considering genetic testing.

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    Genetic testing can tell us a whole host of information. It can tell us about predispositions to developing cancers. It can tell us about predispositions to developing cardiac disease and neurologic disease. It's oftentimes used to find explanations for why there is a developmental delay in a child, for instance. So we can get a lot of information from genetic testing.

    Being thoughtful about the testing that is ordered to help us answer the questions that we're asking is a really important part of genetic counseling. Genetic testing can often be done on a simple blood draw.

    The process of genetic testing is not necessarily that complicated. It’s interpreting the results and then translating those to clinical recommendations where genetic counselors can really be instrumental in making that transition. We actually have about an hour with all of our patients, so we can really go into much greater depth of family and medical histories than other providers are able to go.

    We also have a very complex understanding of the genetics behind certain conditions, as
    well as the most appropriate testing options that are out on the market. We can really help patients and families figure out what makes sense both from an information standpoint as well
    as a cost-effective standpoint.

    Genetics can make people nervous understandably because we are talking about family history in your DNA, and we can't change your DNA. So if we do testing and find something in your DNA, it can be a very jarring experience for individuals and families.

    Some people who go through the genetic counseling appointment don't want to do genetic testing or don't even want to come to genetic counseling in the first place. However, we always try to encourage people to at least come and have a conversation with us because that's what genetic counseling is: it's really just a conversation.