BRCA gene testing | My Eyes Are Up Here

I did a saliva DNA test for my ancestry through Ancestry.com about a year ago. My husband was a bit surprised, “Now you’re DNA is out there.” I replied, “My DNA is everywhere. It has not been private for a long time.”

In 2012, I was diagnosed with breast cancer. I underwent BRCA 1 and 2 DNA testing. The test results suggested no mutation of either gene. Mutations are associated with increased risk of breast cancer, ovarian cancer, and prostate cancer.

In 2017, I had two heart attacks within 8 days, due to Spontaneous Coronary Artery Dissection (SCAD). I provided a blood sample to the Mayo Clinic, as part of their DNA registry to identify genetic contributions to SCAD. A few months later, I had some more genetic testing done through a local cardiologist. I found that I have a genetic marker for elevated cardiac risk.

In my situation and with my personality, I prefer to gather information, if there’s not physical risk associated with it. But this is not for everyone. This is why there are genetics counselors, to help us make informed decisions about whether testing is the thing to do and to help us understand the results when we do it.

There are two times that I have refused DNA testing and it has been on behalf of other people. The first was when I was pregnant with Zoey. I opted not to have amniocentesis after a blood screen indicated increased risk for Down’s Syndrome. After looking at the testing properties of the screen, talking with a genetics counselor, and meeting with a neonatal specialist, John and I agreed that the risk of Down’s Syndrome was really low (the screen had a really high false positive rate), not high enough to risk miscarriage through the amniocentesis procedure.

When my dad was diagnosed with stage IV prostate cancer in March of this year, there was a referral for genetic testing. Mom and I agreed that this was not top priority at the time. Then my dad got an emailed referral once again about a month before he died. I handled Dad’s email correspondence.

Dad had so many medical appointments. He had dementia. He was fully physically disabled, needing two staff members at the nursing home, to move him. (He would later only need one person and that’s what allowed him to be discharged and die at home, as he wished.)

Genetic testing? Really? Since when is it surprising for an 85 year-old man to have advanced prostate cancer?

However, I don’t know the answers to all questions. I am not an oncologist. I contacted the genetics clinic and asked whether it was really important that Dad have the testing done, given his advanced age and limited quality of life. I was told that the referral had been made “due to family history of certain cancers.”

It was now clear to me that it was my history of breast cancer that led to the referral. I wrote back to the PA, explained that I’d had BRCA 1 and 2 testing, was negative, but that my testing had been done in 2012. I asked if she could tell me the testing protocol so that I could get the testing done instead of my dad. She very kindly forwarded my question to one of the physicians, who told me that she agreed that testing wasn’t a great idea for Dad and suggested that I ask my oncologist for what testing to get done.

I haven’t gotten around to the testing yet. I just sent my oncologist an email, asking for her opinion.

The Information Age puts us in the position of finding the sweet spot between too much and too little.

April is the Health Activist Writers’ Month Challenge to write 30 health related posts in 30 days. Today’s post reflects my taking on this challenge of not only posting 30 health-related items in 30 days but to incorporate some activism into my blog.

Last spring, like many younger than average breast cancer patients, I had my blood drawn and sent to Myriad Laboratories for genetic testing. The purpose of the test was to determine whether my BRCA 1 or BRCA 2 genes were mutated. As most of you know, BRCA 1 and 2 protect against breast and ovarian cancer, so if one or more of them are mutated, you lose some of that protection. One of them protects men against prostate cancer. My understanding is that although most breast cancer is not due to BRCA mutations and that only an estimated 5% of breast cancers are believed to be genetic, the risk of breast cancer for women with 1 or more of the mutations is 90% and the risk of ovarian cancer is 40%. Furthermore, BRCA 1 and 2 mutations are highly heritable.

Fortunately, I did not have either genetic mutation and further, there is a relatively low incidence of breast cancer in my extended family history. But the stakes for individuals with these mutations is high. Women who test positively for the mutation/s are often advised to 1) get a bilateral mastectomy or get annual MRI’s and diagnostic mammograms and 2) have their ovaries removed. (The reasoning being that ovarian cancer is difficult to detect until it is advanced.) These recommendations are also often given to women who test positive for the genes but who do not have breast cancer.

BRCA testing is very expensive and is not covered by all insurance companies. Further, many people in this country do not have adequate health insurance. My wonderful genetics counselor told me that there is only one lab in the country, Myriad Labs, that does this testing. I thought this was curious but didn’t give it much thought at the time because I was busy freaking out about having just been told that I had breast cancer.

The reason that Myriad is the only laboratory that performs the tests is because the U.S. Patent Office granted them a patent on the BRCA 1 and BRCA 2 genes! So a company has patented human genes! They are the only lab that is allowed to do the test. I’m no patent attorney, but this is more than a little alarming to me. What does it mean to patent a gene? A gene is an actual physical thing. If old college and grad school memories are correct, genes are just particular sequences of amino acids that have a particular location on a chromosome. (Okay, I just looked it up and it is the sequence of nucleotides, not amino acids, and I’m not going to start over because my brain just exploded.) I thought patents deal with intellectual property. What is the intellectual property at stake here? Do they own the right to examine and glean information from these particular genes? I’m confused.

So whose DNA is it, anyway? This question, in respect to the BRCA 1 and 2 tests, is being examined by the U.S. Supreme Court starting on April 15th. I for one, will be following this decision closely.

I first learned about this issue through my involvement with the Empowered Doctor website. Their article can be found here. Another good article can be found on the New York Times Book Review website.

Hey Myriad, if Watson and Crick could share credit for their independent discoveries of DNA, why can’t you share with other labs? (Image from Wikipedia)