Should I Be Tested for Genetic Mutations Linked to Cancer? A Real-Life Example of Someone Who Said Yes
– Kathleen Flynn O’Neill, NP
This is the story of Megan.
Megan has a family history of breast cancer. Her grandmother was diagnosed at a young age and passed away at 41 years old. In 2017, we discussed genetic testing, specifically the link between genetic mutations and breast cancer. She pursued testing and to her relief (and mine!) she tested negative.
But this isn’t the end of Megan’s story. In fact, it’s not just Megan’s story – it’s her whole family’s story.
In her own words:
“Genetic testing saved my family’s lives and I will be forever grateful to the team at Bloom Ob/Gyn. In 2017, Flynn recommended genetic testing due to my family history of breast cancer, which in my opinion, wasn’t THAT extensive. I had heard about BRCA and figured since it was now covered by insurance, I would receive the test. I was negative and at the advice of Flynn, I suggested to my older sister that she be tested as well.
Shockingly, she is positive.
She met with a team of physicians to discuss her risks and options. In her opinion, the options for preventive treatment far outweighed the little to no option once you have cancer. She had a double mastectomy in November 2017 and was able to have reconstructive surgery at the same time, which isn’t typically an option for cancer survivors. Although the risk of ovarian cancer was much less, the detection is difficult which is why ovarian cancer is more frightening. In late 2018, she had her ovaries removed and is also able to receive hormone therapy, unlike cancer survivors.
To understand where the BRCA came from, my father was tested as well.
He is positive.
My father met with his internist who suggested being diligent on all screenings. He had a colonoscopy which detected stage I colon cancer and in preparation for his colon surgery he had a CT scan which detected a tumor on his right kidney. A biopsy later revealed Stage I kidney cancer. He had six inches of his colon removed, his kidney removed, and was able to avoid chemotherapy and radiation therapy.
Since then, several other family members have discovered they are positive for the BRCA2 gene as well.
Without genetic testing, I don’t know if my father would be here today. And my sister would unknowingly be a ticking time bomb for cancer. The choice for preventive treatment is a personal one, but with genetic testing at least you will know to be diligent with your screenings.
When you are diagnosed with cancer you have no choice but to fight the battle. With genetic testing, you now have the option to avoid the war altogether.”
As a clinician who screens for different diseases daily, one of the most important tests I send is a simple blood draw to screen for hereditary susceptibility to cancer. Disease prevention is an integral part of your ongoing healthcare at Bloom Ob/Gyn and a simple form can help us identify patients and families at high risk for genetic mutations linked to cancer. This simple form started the process that literally saved the life of Megan’s sister and father.
If your family has several members with the same cancer, multiple cancers on one side of the family, young onset of cancer (under age 45-50 years old), or rare cancers like ovarian or pancreatic cancer, you might be at risk for these cancers as well. Megan’s family history raised a red flag for me, as it would for any other patient I encounter. If you are one of these patients, you would be a candidate for genetic testing.
I have tested many women in our practice and, like Megan, the majority of them are not carriers of a genetic mutation. However, even with a negative genetic test, 63% of these patients qualify for a modified breast cancer screening protocol because of an elevated lifetime risk for this cancer. They might start mammograms and/or breast MRIs at an age younger than 40 years old. Screening protocols are less well defined for the rarer cancers like ovarian and pancreatic cancer.
As Megan learned, testing a patient in our office is very simple!
At your first appointment and all annual exams thereafter, you should receive a Cancer History Form. If you mark yes to any of the questions on this form, your provider will review your family history in more detail and offer testing. We know that breast cancer is one of the leading causes of cancer death in women and genes linked to breast cancer are included in a panel of genetic mutations that screen for this and seven other cancers.
After watching a short video on genetic testing, you dial-in to a remote genetic counselor who confirms your high-risk family history, completes your test requisition form, and reviews insurance guidelines. A blood sample is taken and your results, along with a personalized management plan, will be available in about 5 weeks.
Your Bloom Ob/Gyn provider will review your results in the office or during a telemedicine appointment. Recommendations for screening, follow up testing, and any interventions will be discussed and tailored to your results. Whatever the results might be, the information gained can be lifesaving for you and your family members. I can’t help but to recall Megan’s words:
“When you are diagnosed with cancer you have no choice but to fight the battle. With genetic testing, you now have the option to avoid the war altogether.”
To learn more about genetic testing or if you think you are at risk based on your family history, call Bloom Ob/Gyn today at 202-449-9570 to make an appointment.
-Kathleen Flynn O’Neill, NP