What You Should Know About Genetic Testing

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There are many different reasons for why someone may want or not want to learn about genetic results. There are no right or wrong choices. Genetic test results have the potential to provide a sense of relief from uncertainty and help people make informed decisions about managing their health care. There are also potential risks associated with genetic testing. These often involve the emotional, social, or financial consequences of the test results.


Below are some reasons people have when choosing to learn results, and some reasons not to learn results.

When deciding about whether to learn about genetic results, it may be helpful to ask yourself:

  • How have you dealt with difficult situations in the past? What strategies have worked well for you?

  • Are there people in your life that you feel you can talk to about your genetic results?

  • How might you feel and react to your genetic results?

  • What might you do with your genetic results?

  • Who, if anyone, in your family do you plan to tell of your results?

  • How do you think the test results will affect your interactions with your family? Your friends?

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  • Reasons to learn results  
    • Health benefits  
      • My genetic results could give me a better understanding of my risk for certain diseases.

      • If I learn I am at increased risk for a particular condition, this may motivate me to improve my diet and lifestyle.

      • I would know if I should see a doctor more often for screening.

      • My genetic results could help my doctor decide which medications will work best, and at what dose.

    • Life planning  
      • I want to have the information to plan for the future.

      • I might live life differently.

      • It may influence my decision about having children.

    • Family planning  
      • If I am a carrier, when I decide to have a child, my spouse/partner can get tested too. Then we would know if we are at risk for having children with the condition.

      • Knowing my genetic results could help me make reproductive or medical decisions.

    • General  
      • I am curious and it is information that would be interesting to know.

      • I am an information-seeker; knowing my genetic results reduces uncertainty.

  • Reasons to not learn results  
    • If there is no cure or available treatment, I may not want to know my disease risk.

    • I cannot fully plan for many of the kinds of health problems that are being tested.

    • Most conditions are the result of the interaction between a person’s genes and his/her environment. The way in which these interactions cause disease is not entirely understood.

    • I could become upset from learning about my genetic results.

    • I am preoccupied by other life stressors; now is not a good time to learn about genetic results.

    • I could become hypervigilant and worry about minor symptoms.

    • I would not do anything with this information anyway.

    • While a genetic result may indicate a particular condition, it cannot tell me how severe the symptoms will be.

    • Carrier status results would not mean that I have the disease, so the results would not really affect me.

    • Because genetic results may reveal information about other family members, this may create tension within my family.

    • I worry that it could be difficult for me to obtain life, disability or long-term care insurance coverage.

  • What does absence of a result or a negative result mean?  

    The absence of a result does not take away an individual’s diagnosis. For example, if an individual is diagnosed with Kabuki syndrome and no disease causing mutation is returned, the individual still has a diagnosis of Kabuki syndrome – testing was just not able to identify the genetic cause in that individual.


    It is important to understand that the absence of a result does not necessarily mean no genetic change or variant was found. To understand one possible explanation, it is helpful to know what is reported and what is intentionally not reported. Variants that are not associated with any disease, and variants of unknown significance are not reported. Additionally, the meaning of a variant is based on current information, as medical knowledge increases, the meaning of a variant could change. For example, the absence of a result could mean that a variant was found, but there was not enough scientific evidence to report it as a disease causing mutation. Over time this could change such that the variant is found to be associated with a trait.


    All genetic testing has some limitations because of the laboratory methods used to do the testing. So the absence of a result could also mean that even though a disease causing mutation was present, genetic testing missed it. It is important to be aware of some of the limitations of the laboratory methods used to do genetic testing.


    Limitations associated with sequencing a single gene include:

    • Some types of mutations (e.g., large deletions, large duplications, rearrangements, variants in noncoding parts of the gene (i.e., intron)) cannot be detected by this method of testing.

    Limitations associated with exome sequencing include:

    • Whole genes or parts of some genes may not be sequenced. Exome sequencing does not actually cover the entire exome. Although approximately 90% of the exome is sequenced, this means that approximately 10% of the exome may not be adequately sequenced.

    • Some types of mutations (e.g., large deletions, large duplications, rearrangements, long repeat sequences, variants in noncoding parts of the gene) cannot be detected by this method of testing.

    These are just some of the reasons why genetic testing may not identify or report a disease causing mutation. For a complete explanation of all of the limitations of genetic testing, you should consult with your genetic counselor or other healthcare provider.

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