My mother heard about genetic testing in her ovarian cancer support group. Sometimes cancer runs in families. Scientists have identified mutations (defects) in genes named “BRCA1” and “BRCA2” in families with hereditary breast or ovarian cancer. My mother had ovarian cancer; her mother survived both breast and colon cancer. We decided that I should look into being tested to find out whether or not I was next in line for one of these diseases.
It wasn’t like a typical visit to a doctor. There were no long personal information and medical history forms to fill out. We met in a small conference room, not an examining room. The doctor asked why I was interested in genetic testing, and I gave her a quick summary of the cancer in my family. She agreed it was worth going forward, and prepared my family tree. Each female relative was drawn with a circle; each male relative with a square. For each member of my family affected by cancer, she blackened the square or circle and noted the type of cancer. Two male relatives developed throat or lung cancer because of a lifetime of smoking. My father survived prostate cancer, which was probably not relevant for me. However, there was a straight line of relevant black circles going from my grandmother to my mother and pointing straight at me.
I decided to go ahead with the testing. I wanted all the information I could get about my cancer risks. I paid for the expensive test myself, even though insurance would probably cover it with my family history. I was worried about discrimination by health insurance companies if the result was positive. Otherwise I felt very comfortable with confidentiality. The doctor only had my name and phone number. The counseling was free of charge. I wrote the check for the test directly to the testing laboratory, and it was shipped with the blood sample.
The doctor said she’d call and make another appointment when she had the results. No matter what the results were, she wouldn’t tell me over the phone. Of course when she called to make the appointment, I tried to guess. Did she sound as if the news was good or bad? I just couldn’t tell.
The news turned out to be as good as I could hope for. “No mutation detected” in BRCA1 or BRCA2. The limitation was still there – I may have inherited an unknown genetic risk factor for cancer. But I was relieved. I didn’t have the mutation that leads to breast cancer in 50-85% of women who have it. I didn’t have to decide whether or not to have healthy breasts and ovaries removed to protect my health. I’m still careful. Most breast and ovarian cancer occurs in women with no family history of it. I do regular breast self-exams, get yearly mammograms, and have yearly ultrasounds of my ovaries. And when a test for early detection of ovarian cancer becomes available, I’ll be first in line.