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Genetic Testing For Cancer

Read real genetic counselors and patients explain how genetic testing works, how it affects treatment and outcomes, and other important information to know.

Genetic Testing For Cancer


You or someone you know may have heard about genetic testing. Maybe you are preparing to get genetic testing done and are wondering what to expect. Rest assured, it’s a fairly straightforward process, and we’ve spoken to some experts who break it all down for you. Read on to learn about who should get tested, how the process works, and other important information about genetic testing.

Who should get genetic testing done?

Certain factors like what type of cancer you were diagnosed with, family history, age and personal medical history are extremely important in determining whether or not you should need genetic testing.

Julie Solimine, MGC, CGC of Mercy Medical Center in Baltimore says, “In general, the cases that are the best candidates for genetic testing, are:

  • Early onset cancers
    • For example: breast, colon, or uterine cancer diagnosed under the age of 50
  • Individuals with more than one primary cancer diagnosis in their lifetime
    • For example: bilateral breast cancer, or a diagnosis of both colon and uterine cancer in the same person
  • Individuals with a family history of multiple diagnoses of the same cancer type, especially if early onset
  • Ovarian cancer, male breast cancer, or pancreatic cancer diagnosed at any age
  • Individuals with breast cancer who are also of Eastern European (Ashkenazi) Jewish ancestry

Once you’ve identified an individual or family who would benefit from genetic testing, how do you know to test? Do you test everyone? Here’s what certified genetic counselor Angela Brickle says:

“We typically recommend that an individual who has been affected by a particular suspicious cancer or the youngest person who has been diagnosed in the family get tested.

That’s simply because they would be the most likely candidates to find something helpful rather than testing someone in the family who hadn’t had cancer.”

Just because someone has cancer doesn’t necessarily mean that it’s due to a genetic factor and they need testing. In fact, “We know that approximately 90% of cancer is sporadic, meaning it is due to random chance, aging, or environmental causes,” Solimine says.

That’s why it’s so important to give your doctor all the information they need, including family and personal medical history. That way, they can offer you the best, most beneficial testing and treatments.

How does the genetic testing process work?

“There are two parts in the process: genetic counseling and genetic testing. Ideally, genetic counseling happens before the testing. 

With counseling, I meet with the patients. We go over all their medical history and family history, and then I explain everything to them. I tell them how genetic testing is done (through a blood draw), what we’re looking for, and all the different types of results. 

The next part is actual testing. They get their blood drawn, get the testing done, results take maybe a few weeks, and then I follow-up with them about the results. Depending on results, if there are any additional appointments, screenings, or anything needed, we walk through that with them as well,” Brickle says.

Getting genetic testing results back

So, then what are the types of results you can receive from your genetic testing and what do they mean? Your results can come back positive, negative, or variant of uncertain significance (VUS).

Your genetic counselor will go over these results with you in their office after testing. You’ll already have been briefed on them before testing as well.

As a refresher, a positive result means there was a change or mutation detected in a gene.

“A positive result does not mean that a person has cancer or was born with cancer, and it doesn’t mean it’s a guarantee that they will get cancer, but their risk might be higher,” Brickle says.

A negative result means there were no detected changes or mutations in specific genes covered by the test.

“A negative result may reduce suspicion of a hereditary condition, but it doesn’t necessarily eliminate every genetic possibility. In that case, I always make sure to let patients know we want to continue to follow them based on their personal and family history,” Brickle says.

A variant of uncertain significance shows a change in a specific gene, but it’s one that we’re still learning about.

“We don’t treat them like a positive, but it’s one that the lab will learn more about and try to clarify. If they can learn more about it, they will update us,” Brickle says.

How genetic testing shapes treatment

Genetic testing results for an individual can change their treatment and/or screening options. If someone tests positive, they might consider getting more frequent screenings, or they may consider a surgical option like a double mastectomy.

Genetic testing results not only change the treatment options for a current patient, but they may also change the lives of that individual’s family. Just ask Shirley Pattan, an ovarian cancer thriver. She says, “Throughout all this, I did genetic testing, and it came back that I was BRCA1+.

I had prophylactic surgeries for breast cancer. I had a double mastectomy and reconstruction.

My sisters got tested and had preventative surgeries as well. One sister actually found out she had stage 1 ovarian cancer, so she caught it early and went through treatment.”

Brickle calls this a “downstream effect.” Genetic testing can help your family members be proactive, and in some cases, it might save their lives.

What else is important to know about genetic testing?

How genetic testing is covered by insurance

“A lot of insurance companies follow typical National Comprehensive Cancer Network (NCCN) guidelines. Those are just established guidelines for who might be appropriate for testing. If a patient meets that criteria, testing is usually covered,” Brickle says.

If your testing doesn’t happen to be covered by your insurance, you can always reach out to your social worker or navigator with questions about financial support and programs.

Luckily, cost has come down in recent years if you’re paying out of pocket. Many labs charge around $250.

How genetic testing can affect insurance

“Genetic testing can have important insurance discrimination implications, which should be taken into account before an individual sends in their sample. The Genetic Information Nondiscrimination Act of 2008 (GINA) is a federal law that protects people from genetic discrimination in health insurance and employment.

Genetic discrimination is the misuse of genetic information. However, GINA does not apply to life, disability, and long-term-care insurance, and also has other limitations. A genetic counselor can help patients determine potential risks to future coverage at the time of their consultation,” Solimine says.

Keep insurance concerns in mind when you see your genetic counselor before testing. They’ll be able to answer any questions you may have.

Genetic testing going forward

“Genetic testing is always changing, and we’re always learning more. Our evaluation one day might be different down the road. We also recognize that families change. As time goes by, there may be new diagnoses. It’s a continual discussion. 

It’s always important to make sure that you update your doctors about your family history and just that you know the family history. Talk to your family about those questions,” Brickle says.

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