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Genetic Testing For Cancer

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.

What is genetic testing?

Genetic testing analyzes your DNA to determine whether you have genetic mutations linked to cancer. Doctors will typically ask for a blood or saliva sample to perform these tests.

Who should get genetic testing?

Certain factors like your personal cancer diagnosis, family history, age and personal medical history are extremely important in determining whether you need genetic testing.

Julie Solimine, MGC, CGC of Mercy Medical Center in Baltimore says that the best candidates for genetic testing include:

  • People with early onset cancers
    • Such as breast, colon, or uterine cancer diagnosed under the age of 50
  • Individuals with more than one primary cancer diagnosis in their lifetime
    • Such as 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
  • Individuals diagnosed with ovarian cancer, male breast cancer, or pancreatic cancer at any age
  • Ancestry that increases your risk, such as Ashkenazi Jewish ancestry.

Additionally, you may be a candidate for genetic testing if you have:

  • Relatives that have similar types of cancer that could be linked to one particular genetic mutation (i.e. if your aunt has ovarian cancer and your mother has breast cancer, both of which could possibly be linked to a BRCA2 mutation). 
  • Relatives with multiple different cancer diagnoses.
  • Physical symptoms that prompt your doctor to recommend testing.
Who in my family should pursue genetic testing?

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.”

Angela Brickle

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

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 do I ask for genetic testing?

If you think you may need genetic testing, first speak to a genetic counselor. A genetic counselor can help you determine whether genetic testing is right for you and can help you figure out payment options, including insurance coverage and low-cost testing.

Your healthcare provider can help you find a genetic counselor. Some healthcare providers also provide genetic counseling. 

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. Before testing, your counselor will brief you on what your results could mean.

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 does genetic testing shape 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:

“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.”

Shirley Pattan, Ovarian Cancer

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

Does insurance cover genetic testing? 

Most insurance plans will cover genetic testing, but each plan’s rules vary. Many plans will require genetic counseling first. FORCE provides a detailed overview of payment options here

Under the Affordable Care Act (ACA), women with a family or personal history of cancers linked to the BRCA genes can get genetic counseling and, if recommended, genetic testing covered with no co-pay. People with other genetic mutations are not entitled to zero co-pay testing under the ACA.

How do insurance companies treat genetic testing?

“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 insurance doesn’t cover testing, 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.

Can genetic testing affect my 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.

The future of genetic testing

“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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