Learning the results of genetic testing can be a stressful experience for some, but it also has the potential to be empowering.  If you are waiting for your genetic test results to come back or are considering having genetic testing in the future, hopefully the information in this blog will ease some of the concern you may be experiencing. I hope that when you receive your test results, you will feel armed with knowledge on what type of information your healthcare provider should provide you with regarding your test results.

When hearing your genetic testing results, one of the first things you will learn is whether your results are positive, negative, or variant of unknown significance (VUS).  A positive result means a gene mutation was found that causes increased risks for certain types of cancer.  A negative result means your genetic testing was normal; however, it doesn’t always mean you have a low risk of cancer.  A VUS result means that a variant (or change in the gene’s spelling) was found, but we don’t have enough information yet to know whether that variant causes increased risks for cancer or is just part of the normal genetic variation that makes you unique.  If you aren’t familiar with these terms, our Genetics 101 video can help you feel more comfortable.  Be sure to ask your healthcare provider for a copy of your genetic test results and have them walk you through the important points of the report.

If a mutation was found, you will learn which gene the mutation is in, if there is a specific named condition associated with that gene, and what type(s) of cancer you have an increased risk for and about how high the risks are (if known).  Your healthcare provider will then go over the options you have for reducing your risks and/or screening for cancers to make sure if a cancer develops, it is caught as early as possible, when it is the easiest to treat.  You will be able to discuss the pros and cons of various options and work with your healthcare provider to develop a plan that is best for you.  If you’ve already had genetic testing which found a gene mutation, take a moment to review our Understanding Your Results sheets to learn what it means to have a mutation in that gene. 

You will also learn what your test results mean for your family members.  If your test results are positive, your close blood relatives may have also inherited the same gene mutation you have. They can have genetic testing to determine whether they also have increased risks for certain types of cancer (and if so, what they can do about it) or if they have the average risk for cancer and most likely don’t need to be taking extra precautions.  It’s important to share a copy of your test results with your family members so that their healthcare providers know what type of genetic test they need.

If no mutation was found, it is still possible that you and/or your close blood relatives may have increased risks for certain types of cancer and there may be options for you to consider to reduce your risk. 

For more information and explanations of possible test results and what they mean for your family, please click here.

In the end, your genetic test results should help you and your family understand if you have an increased risk for cancer, what those risks are, and what options you have to reduce your risk.  If your healthcare provider isn’t able to or doesn’t provide any of the above information, I encourage you to make an appointment with a healthcare provider that specializes in cancer genetics, such as a genetic counselor.   You can find a genetic counselor in your area at www.nsgc.org (USA) or https://www.cagc-accg.ca (Canada).