The good, the bad and the ugly

It seems that each step along the way has yielded both good and not so good news.  
"You have cancer, but the good news is we think we've caught it early".  
"Your cancer is a grade 2 moderately aggressive cancer, but the good news is it's not grade 3 which is the most aggressive."  
"Your cancer was in one of the lymph nodes, but the good news is it wasn't in any of the other 9 we removed".
"You have the breast cancer gene, but the good news is only one of your "copies" is positive for this mutation."


I have the breast cancer gene, known as BRCA.  This was my worst fear, because this means there is a chance I have passed this gene onto my daughter.  What is amazing though is that this testing exists and is there to help us put preventive measures in place.  

Only 10% of all breast cancers are the result of carrying this BRCA mutated gene, but when you have the BRCA mutated gene your chances of getting breast cancer are extremely high.  A company in Utah has figured out how to "read" the BRCA genes and identify any abnormalities within them.  It's truly amazing, to identify a gene, and figure out how to "read" the dna string containing volumes of information, and identify when something, anything, is out of place.  And then, to do something with that knowledge.  If we just "know" that does nothing to reduce the risk; but women identified as carrying a faulty BRCA gene, who do not yet have cancer, are put on a more aggressive screening schedule and approach, beginning at age 25 or earlier if warranted.  MRI is used versus mammograms alone, making it more likely that the breast cancer will be detected early on.  And catching cancer early is the key to survival.  

This is the good.

When I was in high school, the mother of one of my friends developed breast cancer.  Her cancer later metastasized and by the time we graduated she had died.  20 years later, her daughter, my friend, had breast cancer.  There was no genetic testing, no "early detection" rituals beyond sending her in for mammograms at a younger age.  Like me though, she had extremely dense tissue and so mammograms are rarely sufficient for detecting the cancer early.  I was luckier than her, and my cancer was caught early.  She went in for a lump on her breast, they did a mammogram and didn't see anything to be worried about.  She went back in, and back in, and back in... finally she insisted on further testing and they found the cancer.  30 days after finally hitting the 5 year mark and being told she was in remission, the cancer reappeared.  Last year, my friend died; and I wonder if she had had the advantage of genetic testing, and the choices that avails us of, if she would be around today.


And then I think about the choices she would have to make; like whether to do a preemptive mastectomy or hysterectomy, whether to use oral contraceptives, which can increase your chances of breast cancer, but reduce your chances of ovarian cancer.  Is ignorance bliss, or is bliss, when 1 in 8 women will develop breast cancer, just ignorance?   


Each person receives 2 copies of this gene, one from each parent, and it only takes a single faulty version to increase the cancer risk.  Right now, with no further testing, we know that my daughter has a 50% chance of having inherited this faulty gene from me.  And there is breast cancer within her father's family too.  


This is the bad.  


So there are decisions to make.  For me the decisions are easy.  With the faulty BRCA gene, my chances are also increased for developing ovarian cancer, so a full hysterectomy will be in order.  The question is whether or not we do this before chemo or after chemo.  More tests to determine the risk of waiting will drive that decision for me. 


For my daughter there are also decisions: to test or not to test; who to test; what to do if the results are positive.  The hospital has a straight-forward policy, partially based on your psychological health and partially based on the insurance and cost implications.  Insurance may or may not pay for the testing I have already undergone.  With no medical history (I am adopted with no birth family medical information), and already having a breast cancer diagnosis, the only option was a full DNA "read"; about $4000.  For my daughter it is possible for them to test just for the specific mutation that I may have passed on.  This is relatively inexpensive versus the full DNA translation, because they know exactly where in the string to jump to and what to look for.  A few hundred dollars and we have our answer, at least for the gene she received from me.


So why is this test so expensive and exclusive?  Because the firm in Utah that identified and mapped the gene has secured a patent for their findings which makes it impossible for other research firms or hospitals to use the information.  A suit was brought against them, in an effort to overturn the patent rights, but has been rejected.  It is moving up through the courts and will eventually land itself in the supreme court.  


How any company can claim the right to the information contained in a DNA string that is currently in my body is beyond me.  Surely, if possession is 9 tenths of the law, then women with breast cancer would "own" the right to have the hospital of their choice "read" the DNA sequence within their body.  I am appalled that a corporation is allowed to put it's own interests ahead of the common good, basically holding hostage the information that could help detect future cancer risk in many women.   If this was information that would lead to the prevention of a probable bombing or germ "warfare", I have no doubt that the government would step in and seize the information for the public good.  So what's the hang-up? 


Let's run the numbers.  There are over 312 million people in the US, if we figure that 1 in 8 women will be diagnosed with breast cancer, and of those 10% will be caused by the BRCA mutation, that's 1,984,902 women currently in the US population that, in their lifetime, will have breast cancer that could be detected through this testing and who are at risk without it.  


1,984,902.  That's more than 3 times the total casualties of WW1, WW2, the Korean and Vietnam combined.


And that is the ugly.  
                                     Want to read more on the lawsuit?  NY Times article