How genetic testing saved my life
Genetic testing is affordable, readily available and can save lives.
Testing can determine cancer risk so people can make informed decisions about their health care.
This woman found out she had the two most predictive genes for cancer.
After Colleen Monfross’s brother and mother were diagnosed with colon cancer at ages 40 and 75, respectively, she was advised to get a colonoscopy screening every five years. Before her third colonoscopy, Razi Arifuddin, MD, her new gastroenterologist at St. Joseph Health Medical Group in Santa Rosa, said something that changed her life — and may have very well saved it. She shares her story here.
Dr. Arifuddin is a wonderful clinician and has a fabulous personality. I was in the middle of giving him my family history and he said, “Stop. Have you ever had genetic testing?” I said no, and he said, “You must be tested. Go see Kathleen Mott right now.”
So, I made the genetic counseling appointment with Kathleen, a nurse practitioner with expertise in cancer genetics. She sent me an intake form to map my family history. She’s very thorough and went over the whole form with me. She said, “I don’t think find we’ll find anything. With your mother, colon cancer at age 75 is not unusual, but for your brother, who had no risk factors and was at a young age, it is unusual.” But really he was the only red flag.
Kathleen selected a 48-panel test for me. All I needed to do was go down to the lab and have a simple blood draw. I did the test in July 2018 and had the results in less than a month.
I should have known something was up when her office manager called me and said, “We have your test results back. We have a cancellation, so you can come in tomorrow morning.” I went in, and as I was walking in the door, Kathleen looked up from her desk, motioned me forward and said, “You need to pull up that chair because we are going to be here a while.” I looked at her and said, “Are you serious?” And she said, “Yes, and I’m as surprised as you probably are.”
It turns out I tested positive for the two most predictive genes for cancer that are currently known, BRCA2 and PMS2. The BRCA2 gene is a kissing cousin of the BRCA1 gene for breast cancer. Mine has a high incidence not only of breast cancer but also pancreatic, colon and ovarian cancers. The PMS2 gene is a predictor for those four as well as an array of others. So yay for me — family genetics, the gift that keeps on giving!
I was stunned by that, because I had been so healthy my whole life. I had watched family members die, but they were smokers. Kathleen was surprised, too, and said in her years of doing this she’d only seen a handful of people like me. It’s very rare, the caveat being that genetic testing is fairly new and relatively few people have been tested.
No one in my family knew about any of this genetic history. This has very strong implications for not only my brothers and sisters but for my nieces and nephews and grandkids. My father had passed away from cancer two years ago, but I took a test kit up to my mom in Canada, and she tested negative for both genes. So, now we know they both came from my father’s side.
My whole life has changed as a result of this. I never failed to go to the doctor every year for my physical, and I was always proactive about my health. But Kathleen said that I really needed to have a total hysterectomy immediately — ovaries removed, uterus removed, and fallopian tubes removed because that eliminated five of the possible cancers right there.
Ovarian cancer was the most important because there’s no test for it. That’s why so many women die from ovarian cancer, because there’s no early indicator for it, and by the time you’re symptomatic, it’s too far advanced and there’s nothing that can be done. Plus, by getting rid of the fallopian tubes, I got rid of the possibility of fallopian tube cancer. With the uterus removal, I got rid of the uterine, endometrial and cervical cancer possibilities.
I’m 57, I’m postmenopausal and not going to have kids, so it was a no-brainer for me to have it done. No one wants to have major abdominal surgery but I was not going to risk cancer.
The other surgery Kathleen recommended was a bilateral mastectomy, and that’s a whole different thing. That’s outward: Taking out the uterus and other things at my age is not a big deal, but now you are talking about the girls, and I like my girls! Plus, there’s the fact that when you do a double mastectomy they can reconstruct them beautifully but there is no feeling afterward. I would hate that, so Kathleen said every six months I’d need to have a manual breast exam by someone who specializes in doing a good, thorough exam and then I’d have to get a 3D mammogram and alternate that every six months with a breast MRI and another manual exam. Breast cancer is very treatable, so if anything comes up it would be found in the early stages. I can always opt for a mastectomy later.
I also went from having a colonoscopy every five years to every year. On top of that, I get an endoscopy and an upper endoscopy (EGD) every three years. I had a colonoscopy in August 2018, and there were two polyps, one of which was precancerous. In October, I had the EGD and the endoscopy, and they were negative. And on top of that, every year I have to see an ophthalmologist for an ocular exam because I am at higher risk for ocular melanoma, and I also have to have a skin exam by a dermatologist four times a year because I am at high risk for skin melanoma.
I want people to know genetic testing is easy to do, it’s readily available and it’s affordable. People think they can do at-home tests, but it’s not the same thing and won’t give you the same information.
The results from my genetic testing changed my life, but I also see it as having saved my life because I already had a precancerous polyp. It’s funny — I talk to other women and say they should be tested because they don’t know what genes they are carrying. Almost all of them say they don’t want to know, because it’s too scary to find out. That’s not the right choice for me — I want to know so I can I can be proactive about my health.
Colleen Monfross is director of operations at St. Joseph Health Medical Network in Santa Rosa, CA.
To learn more about genetic testing and genetic counseling, visit:
California: St. Joseph Health Medical Group; Providence Center for Clinical Genetics and Genomics; Disney Family Cancer Center; St. Joseph Hospital, Orange, Cancer Genetics Program
Alaska: Providence Cancer Center
Oregon: Providence Genetic Risk Clinics
Montana: Montana Cancer Center and Providence St. Patrick Hospital
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