How does genetic testing work?
The testing process itself is simple: For most people, it involves a simple blood draw or saliva sample. Occasionally, depending on the situation — such as when we test for certain blood cancers — a skin biopsy might be required.
What happens after the test results come back?
The results will either be negative, positive or inconclusive. If the test is negative, it means the person does not have a mutation in their gene that is linked to an inherited cancer. However, a negative result doesn’t necessarily mean you’re in the clear if there’s a significant family history of cancer. If that’s the case, personalized cancer screenings may be needed. We review these screening guidelines from the National Comprehensive Cancer Network (NCCN) when we go over the test results. When needed, I will refer them to a prevention clinic for personalized recommendations.
The results may also be inconclusive. This means the person has genetic variations whose impact isn’t fully understood yet. Often, this is called variants of uncertain significance, or VUS. This means genetic changes were identified during the test that have an unknown impact on a person’s health. In these cases, I will review pertinent journal articles, compare results to health data from studies of large groups of people and review your personal and family health history to better understand its impact on your health. The majority of inconclusive results are treated as negative because there is a high probability they are a harmless genetic variation. If any new scientific data is released that suggests a person has cancer risks and should follow screening recommendations, I will notify the patient. These updates can happen months or years after you have your test. Labs notify genetic counselors when there are changes like these and genetic counselors will contact people who are affected.
Other people will have a positive result. If that’s the case, I’ll work with the person to get them the appropriate follow-up plan or care they need. For instance, this could mean a person will need to be screened more often, so if cancer does develop, it can be caught in its earliest stages when it is most treatable. I might also refer them to specialists who can recommend healthy lifestyle changes and habits as well. Another important step for patients who are positive is for them to share their results with biological relatives.
Regardless of whether a person’s result is negative, positive or inconclusive, I will meet with them to discuss the test findings, answer questions and talk about what next steps may be needed.
How can people talk to their family about their genetic counseling or testing results?
Every family is different and there is no right or wrong way to do it. Sharing information, like a genetic test result, can feel difficult, but it is a caring act and is about giving loved ones the power of choice and is a tool that can help protect their health.
Some people decide having separate conversations with just a couple people versus a large group works best for them. Sharing stories about friends who have had cancer is another way to open up conversations around family health. Some people find it helps to mention you’ve been tested and that your genetic counselor discussed how important it is to share your results with biological relatives.
I also understand and respect that everyone has a different background, and because of this, it may not be possible for them to begin a conversation like this. If that is the case, there are options and I can help. For example, I can write a letter to the family that provides clear information that a person can share. In some cases, I can meet with family members and the person who was tested so they can all ask questions. My goal is to support the individual and family in whatever way is best for them.