To Test or Not to Test?
For some people, the thought of genetic counseling and testing is frightening and overwhelming. You wonder: “Could I have the gene that makes me more likely to have breast or ovarian cancer?” Or, if you’ve already had breast cancer, like me, you may wonder, “Could I be carrying a mutation in BRCA-1 or BRCA-2, the genes that put me at high risk of developing ovarian cancer? And, will I pass these genes on to my daughters or my son?”
Filled with worry and guilt, taking the test becomes a double-edge sword. On the one hand, if it’s negative, I’d be relieved that my kids don’t have a higher chance than the average person does of getting breast cancer. On the other hand, if I test positive, what does that mean for their future? And then there are those who have a family history of cancer, but are worried that if the genetic testing reveals that they are carriers, they may lose their jobs or their insurance coverage.
Ultimately, in 2002, I chose to do genetic counseling and testing. The counselor, who was crucial to the entire process, explained to me that not only was this information important for my children and siblings, but also for my extended family of aunts, uncles and cousins.
The latest studies show that women with third-degree family members with breast or ovarian cancer ought to have genetic counseling to determine their risk for cancer and eligibility for genetic testing. Family history is an imperative component in putting together the pieces.
“Genetic counseling often involves genetic testing, but not always. The benefit of genetic counseling is to evaluate the personal and family history and genetic status of the patient so we can estimate their chance of developing cancer and come up with a personalized screening and prevention plan,” says Bridget LeGrazie, RN, MSN, AOCN, APNc, APNG, Virtua Cancer Genetics Program manager. “In addition, we want to help patients and their health care providers identify who should be coming for genetic counseling. For example, if someone is diagnosed with breast cancer at 45 or younger, they should be having genetic counseling even if there isn’t any family history.”
LeGrazie goes on to explain, “Family history includes both your mother’s and father’s families. It’s a myth that breast cancer genes are passed on only through your mom; your dad can pass on those genes, too. Find out the health history of you parents, grandparents, great-grandparents, uncles, aunts, siblings, children and cousins. That information is going to be crucial to your healthcare provider as well.” (Take this risk factor questionnaire to determine if you are eligible for genetic counseling.)
The good news is that today, most health insurance companies cover the cost of genetic counseling and testing. The National Comprehensive Cancer Network recommends genetic counseling for all individuals who are undergoing genetic testing. And for people who are putting it off because of fear of health insurance and job discrimination, thanks to GINA, the Genetic Information Non-Discrimination Act signed into Federal Law in 2008, they are now protected.
If you’re thinking of having genetic testing, before you do so, seek the guidance of a genetic counselor or genetic nurse. I find it helpful to demystify the process of genetic counseling and testing. Here’s what to expect if you decide to have genetic counseling:
1. Schedule an appointment with a genetic counselor or genetic nurse at your hospital.
2. Fill out a family history questionnaire, which will be sent to you before your appointment.
3. Meet with the genetic counselor or genetic nurse as scheduled to find out if you are a candidate for testing and what your risk for cancer is based on your personal and medical history; this takes approximately 1 to 2 hours.
4. Choose to have the testing done at that visit, later – or not at all.
5. Test for the BRCA-1 and BRCA-2 breast cancer genes via blood or saliva test.
6. Return to your genetic counselor or genetic nurse in 2 to 3 weeks to get the results of your testing.
7. Discuss your personalized screening and cancer prevention plan based on your test results and family history as needed.
Knowledge is power, and if we can have a little more power when it comes to cancer, I’m all for it.
Updated January 2, 2020