Tuesday, December 27, 2016

Genomics Revisited the Quest for my BRCA

Rosalind Franklin: the scientist who used
X-ray diffraction images to reveal 
the structure of DNA.
My first foray into exploring my genome was through the Genographic Project. Instead of whetting my curiosity, it lit it on fire. I’ve been reading articles and books, and I dream of one day visiting some of these places. (Read More)

My second peek into my genome was for practical purposes. I needed to know whether or not my boobs are going to try to kill me—a question that has haunted me since adolescence. My mom and her mother were both diagnosed with breast cancer in their early forties. My mom was an only child, as was my grandmother. I have no sisters…so 100% of my maternal, female relatives have had breast cancer. Small sampling group, but still—100%.

Breast cancer before menopause is particularly indicative of a genetic issue. There are two well-known genes related to breast cancer BRCA1 and BRCA2 (BReast CAncer). These two genes contain instructions for building proteins that repair or kill cells with damaged DNA in the tissues of the breasts and ovaries. Mutated genes produce weird proteins that can't carry out their jobs properly. If cancer cells appear, they are more likely to grow unchecked.

According to Cancer.gov, 55-65% of women with mutated BRCA1 genes will develop breast cancer by age 70, and/or 39% will develop ovarian cancer by age 70.  The BRCA2 odds are better at 45 percent for breast cancer and 11-17 percent for ovarian cancer by age 70.  (Source)
BRCA1 Protein
Got any damaged cell DNA
for me to repair?

These are all odds. It's all ifs and percent risks—not a diagnosis.

OK. BRCA genes don't cause cancer. I get it.

My doctors and I have discussed genetic testing in depth since I'm approaching the age my mom and grandma were when they got sick. I was on board with the testing, so my doctor sent in a referral and told me where to call.

I put in a call.  A pleasant voice from the Genetic Testing Department of my local hospital explained that prior to being tested, I would meet with a genetic counselor who would chart my family history, and explain to me how genetic testing works. That part costs $250.

Oh, wow, um, OK, go on.

Then I would be tested by a certified lab costing somewhere between $2,000-$5,000.

WTF—a $3,000 price range? Is there a wheel to spin? Wow, OK.

To get the results, I would be required to meet with my assigned genetic counselor for another $150 to explain the implications of my results.

Pleasant Voice Lady asked if I would like to schedule my first counseling session.

I think I'm going to check with my insurance company first.

So I did, and Annoyed Voice Man said, “Nope.”

See! It's right there. Just tell me what it says!
WTF! For $150, science told me that I have Inuit ancestors from Siberia, and that 1.1% of my genome is Neanderthal in origin, but it's going to cost me upwards of $5,000 to find out if two well-known genes can do their job!? Maybe...

Knowing this information already existed due to my participation in the Genographic Project, I went on a quest to get to it. The FDA boob-blocked me the whole way. The Genographic Project referred me to myFamilyTree.com, who is their partner in the project. I transferred my results and looked into the health information they provide. Here is a list: What are Factoid tests? What will I learn?

No cancer results? What? They can tell me if I have the Warrior Gene but not the state of my BRCA1 or BRCA2? I emailed and asked, they said they replied the FDA prohibits them from giving medical advice. Since when is information synonymous with advice? Doesn't advice imply guidance? I don't want advice; I want data.


Next on my list was 23andMe. They provide genetic health reports too. They can tell me if I carry the gene for Cystic Fibrosis, but again, no BRCA1 or BRCA2. I emailed them to make sure I didn't miss it, and they also replied that the FDA prohibits them from giving medical advice.


I found a few more services, Ancestry.com, and myHeritage.com…FDA says NOPE!

I called bullshit.  In June of 2013, the Supreme Court ruled that naturally occurring genes could not be patented, meaning testing for a specific gene couldn't be patented either. Score one for the old guys in robes! This should have led to a rapid drop in the price of genetic testing, but that's not what happened.  The FDA made sure of that.

This led to a FaceBook vent about the injustice of the FDA protecting the monetary interests of those in the medical profession by withholding information that belongs to ME about MY DNA that is a part of MY BODY. Worse, they are blocking this information under the pretext that the average person is too stupid to understand that a defective gene is not a diagnosis and might do something rash… Like what, get a back alley breast removal? Apparently, only the wealthy deserve to know, whereas us plebeians should just get sick and die and decrease the surplus population. (Apologies to Dickens.)

A reply to my FB post from a caring friend brought me back from Angry Injustice Town. Being involved in a medical field, my friend offered some insights and did some substantial research into the topic. During which, she found Color Genomics. Color is a new online genetic testing service that circumvented the FDA blockade by having an in-house doctor order the test, review the results, and offer counseling services.  All of which is included in the $250 price tag. The FDA still blustered when Color launched their service, but had no way to further derail their mission: “Half of the women who carry mutations of these genes don't have the family history that would allow them to get tested,” says Gil. [Color CEO] “This information can help everybody, not just the select few who can pay for it or have insurance coverage.” (Source Article)

As it happened to be Breast Cancer Awareness month, Color was offering a $25 discount. The genetic test would return results about my BRCA genes and 28 other genes known to be associated with hereditary cancers, e.g., melanoma, colo-rectal, and stomach. Here's a full list, 30-Gene Test for Hereditary Cancer Risk, which includes many lesser known genes related to breast cancer as well.

The whole package was less than what was required for my first counseling session!

I ordered the test and submitted my doctors' contact information so they would receive a copy of the results. The box arrived, I followed the directions and popped it back in the mailbox. A few days later, an email arrived stating that the test was received and would be analyzed. Then a week or so later the results were in. Before I even had a chance to log in to see them, my OB/GYN doctor called me to let me know he had received the results. Happy news—my BRCA genes were fine! I logged in and took a look, all 30 genes are happy and productive.

OK. Wow. That was easy and awesome.  This test saved me three doctor appointments and somewhere between two and five thousands dollars.

So Amy, what were you going to do if the test reported a mutation?

Excellent question! My plan was to share that information with my doctors and do what they told me to do, then go home and fix dinner for the family.

I needed to know.

I'm not totally off the cancerous hook. My family history component of cancer is still there. At first, I wondered how something related to family history wouldn't be revealed in my DNA. Then after some reflection, I reasoned that 3.3 billion base pairs is...well…a lot. And we are only starting to understand our genome—there are infinite ways the genes could play against each other. Also, there is a nurture component; if I mimic behaviors that led to my mom's cancer, I elevate my risk factors. So based on my mom and grandma's cancer alone, I will need to continue getting mammograms et. al. even though I am not yet 40 years old. Fine with me. Momentary discomfort is better than being dead.

Also, since all females get two X chromosomes, one from each parent, I have a 50-50 chance of passing a bad one onto my girls, even though it didn't express for me. Luckily they get an X chromosome from their dad too, giving them a 25% risk of inheriting a faulty gene from me. (If I even have one, the only way for me to know would be to test my mom.) When they are grown, it'll be worthwhile for them to get tested too.

To the CEOs of Color:
Thanks Gil.
Thanks Laraki.
You guys rock.

Further Reading:

Press about Color:

Genetics - BreastCancer.org
Excellent breakdown of the genes associated with breast cancer and how they function.

BRCA1 and BRCA2: Cancer Risk and Genetic Testing - Cancer.Gov

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