The Importance of Genetic Testing for Cancer Patients

There are so many emotions and questions when a patient is first diagnosed with cancer. It can be extremely overwhelming at first! The next step is to find a quality doctor and a plan for treatment. Most doctors will put in orders for their patients to have further testing prior to treatment. Among the tests ordered by the doctor could be genetic testing. This prompts the patient to ask: “Why should I get genetic testing?” I would like to share my answer to this question as well as how my experience with genetic testing influenced my treatment plan as a breast cancer patient two years ago.

Genetic testing wasn’t even a thought crossing my mind prior to September of 2016. In August of that year I received a mammogram reminder card in the mail. It was time for my annual mammogram screening. I was 45 years old and I made the appointment in September. For women who have gone through a mammogram screening, you understand that it can be an uncomfortable experience.

The day of my mammogram screening arrived and I went to my appointment. I got through my mammogram and as I was leaving the receptionist advised me that my mammogram results would be forwarded to me and my doctor in a few days. I left the office relieved that the mammogram was done and went about my day.

I was nervous when I got a phone call the next day from the Women’s Diagnostic Center advising me that an abnormality was found. I was also told I needed to come back for additional testing. The year before, I also received a call back after my initial mammogram. In that case, this was due to having dense breast tissue. It turns out that dense breast tissue is quite common. I was hoping that this was a matter of the dense breast tissue.

I went back for more testing the following day. I had more targeted mammograms as well as a biopsy. It revealed that I had a small 1 cm, cancerous mass in my right breast. This was considered stage 1 breast cancer. I was in shock in hearing this heart-breaking news.

After emotionally accepting the devastating news I quickly found a Breast Cancer surgeon. I was fearful of how quickly my cancer could spread and I didn’t want to waste any time. During my first consultation with my surgeon I learned that more testing needed to be done. Besides getting an MRI, bone scan and checking my lymph nodes, it was suggested that I get genetic testing done prior to choosing a procedure: lumpectomy, mastectomy of the cancerous breast or a double mastectomy.

I didn’t know much about genetic testing and I was a little intrigued by it. The first step in the genetic testing begins with taking a survey. This includes sharing family medical history. In the process of completing the survey, I learned about my family’s medical history, which included ovarian and breast cancer. The completed survey aided the genetic counselor in ordering the appropriate gene panel to be studied. The genetic counselor took a sample of my blood and advised me that in three weeks or less I would have the results. Since I was a cancer patient, a rush was put on my genetic testing and sent to the lab.

I finally got my blood test results back. It reported that I have a mutation in the BRCA2 gene. This was one of 19 other breast cancer causing genes studied in my blood panel. What does a mutated BRCA2 gene mean?

Included with my genetic test report was a 15-page report describing this condition and my risks. Individuals with mutations in BRCA2 have a condition called Hereditary Breast and Ovarian Cancer syndrome (HBOC). Women with HBOC have a risk for breast cancer and are also at high risk for ovarian, fallopian tube and primary peritoneal cancer.

I learned that if I didn’t undergo any treatment for my breast cancer by age 50, my risk would double. By age 70, my risk would triple. When I shared the test results with my surgeon, she informed me that patients at a young age (under 50 years old) who get the breast cancer treated in the early stages have the advantage of recovering faster than a 70 year old.

This was devastating news and extremely overwhelming at the same time. It was clear that left untreated my cancer risk would greatly increase and most likely recur again in my other breast. Do I have a mastectomy in the effected breast and take a chance on the healthy breast? Do I really want to go through this experience again? The answer was clear: NO. I went from originally leaning towards a lumpectomy to deciding on a double mastectomy as well as an oophorectomy for my treatment with reconstructive surgery.

In my case, genetic testing revealed vital information (BRCA2 mutation) that allowed me to make an informed decision on my breast cancer treatment. It also helped me understand my future risks if I didn’t get treatment for breast cancer.

I understand this may not be the path all patients want to take when determining their treatment plan. The downside is other family members may not be prepared to accept this information and implications. If a family member tests positive for this cancer mutation how will that affect them? For those family members impacted by this news, early detection is crucial especially for family planning.

As breast cancer survivors, we have no choice about getting this terrible disease. Breast cancer patients have a very powerful tool available to them. That tool is genetic testing. Depending upon the test results it can be a blessing or a curse.  In short, it can provide cancer patients with valuable information that can aide them in selecting a treatment that will be best for them.

Add a Comment

You must be logged in to post a comment