Genetic Testing and Counseling
Knowing if you carry a gene mutation can shape your treatment and your future
Some mutations—like BRCA1 or BRCA2—increase your risk of developing new breast cancers as well as getting ovarian or other cancers later on.
Testing gives you and your care team valuable insight. If you’re interested, your doctor can refer you to a genetic counselor, who will explain what your results might mean for both treatment and long-term health.
What is genetic testing?
Genetic testing looks at your DNA to see if there are any inherited changes in specific genes that could raise your risk for cancer.
It usually involves giving a blood or saliva sample, which is sent to a lab. The results are shared with your doctor and a genetic counselor, who can help you understand what they mean and what your options might be.
Understanding When and Why Genetic Testing Matters
When Should I Consider Genetic Testing?
What Happens If I Have a Mutation or Risk Factor?
Why My Family May Need to Know
Who Are Genetic Counselors, and How Can They Help?
Next Steps
What Happens at a Genetic Counseling Appointment
Your genetic counselor will start by asking about your personal and family history, especially patterns that might suggest an inherited risk, such as:
- Cancer diagnosed at a young age
- Several family members with cancer
- Family members who’ve had more than one kind of cancer
They’ll Talk With You About:
- Whether testing makes sense for you right now
- What kinds of results you might receive
- How results might affect your medical decisions or your family
- Concerns like cost, insurance coverage, or privacy
Together, you’ll decide what feels right for you, whether that means testing now, waiting, or choosing not to test.
What to Bring to Your Appointment:
It helps to gather as much information as you can about your family’s health history, including:
- Who in your family had cancer, what kind, and at what age
- Any pre-cancer diagnoses or known genetic mutations
- Medical reports, if available, like pathology or surgery summaries
- Any previous genetic test results from yourself or relatives
The more complete your information, the better your counselor can understand your potential risk.
Understanding Your Genetic Test Results
Before getting genetic testing, it’s important to understand what the results can—and can’t—tell you. That’s why meeting with a genetic counselor or a specialist in cancer genetics is recommended before moving forward. They’ll help you prepare for the range of possible outcomes and guide you through what those results might mean for your health and your family.
Positive for Genetic Mutation
This means the test found a specific gene change known to increase cancer risk. If you’ve never had cancer, this result may open the door to proactive steps that can lower your risk or help catch cancer early. If you’ve already been diagnosed, the result may shape your treatment decisions. It can also be valuable information for close relatives, who may share the same gene change.
Negative for Genetic Mutation
This means no harmful gene changes were found in the genes tested. While this can bring peace of mind, it doesn’t always mean your risk is zero. Some risk factors might not be detectable with current testing, so it’s important to talk with your care team about your full risk picture, including family history and lifestyle.
Variant of Unknown Significance (VUS)
In this case, a gene change is found, but it’s unclear whether it affects your cancer risk. These results can feel confusing or frustrating. Over time, as researchers learn more, the meaning of a VUS may become clearer, so staying in touch with your care team or genetic counselor can be helpful.
