BRCA testing incomplete?

Anonymous

http://www.cnn.com/2011/10/27/health/brca-genetic-testing-ep/index.html?hpt=hp_c2

unbelievable.  If the link doesn't work you can find the article on CNN.com under the Health link.

cp418

Myriad's business objective is unethical, immoral and they are getting away with it.  Pure sleeze IMO.

otter

patoo, here's a link to an article that was published in August 2011.  It's mentioned in the CNN report.  The journal article concludes that the criteria Myriad uses to predict who might need BART testing are not accurate -- half the BART mutations were found in women who didn't meet Myriad's criteria as high risk for a BART mutation.

http://www.sciencedirect.com/science/article/pii/S2210776211001906

Unfortunately, I haven't been able to retrieve the complete article because it isn't available through my local library.

I was tested in March 2008 for BRCA1 and BRCA2 mutations, and there weren't any detected; but I was not tested for BART mutations.  BART testing was mentioned by the genetic counselor, but nobody thought it was warranted.

otter

Anonymous

Thanks otter.  I agree with cp418 that it's just unethical on Myriad's part.  How can they live with themselves?  I see it as plain evil.  Doctors many times order tests that cost thousands of dollars to cover their butts but one that costs $700. can't be made a part of the normal routine?   If it spares one person the agony it's darn well worth it.

otter

I guess there are two fiscally sound options for Myriad:  continue to charge separately for the BART test, but try to convince insurance companies to pay for it; or bundle BART testing with the standard BRCA testing and increase the total price by the relevant amount. 

Maybe the problem isn't with Myriad -- I'm sure they'd love to do more BART testing, if they got paid for it.  Maybe they aren't charging enough for the standard BRCA testing to cover the BART, too; so they would need to raise the price if they bundled the tests.  But, then they would need to negotiate with insurance companies to cover the higher price.

It seems to me that the problem is with insurance companies, which don't pay for the BART test because they haven't been convinced it's medically necessary.  I was told that, based on my family history, my chances of having a BRCA mutation were only around 5 to 8%, and my insurance probably would not cover the cost of standard BRCA testing if my odds were less than 10%.  They did pay for it, though.

What Myriad needs is more studies like the one described in that link I posted.  If they could show that everybody getting standard BRCA testing should also have BART testing, insurance companies would have to start covering the whole thing.

That's IMHO, of course.

otter

Anonymous

And your HO is invaluable, and down to earth, as usual.  Thanks.  (maybe I'll now stop wishing bad things on Myriad) 

otter

Nah, patoo -- go ahead and wish bad things on Myriad anyway.  I was giving them the benefit of the doubt on the BART issue, but they're involved in a much more serious and broad-reaching controversy.  This is off-topic, but relevant to us:

In March 2010, a U.S. District Court ruled on behalf of the ACLU that the patents Myriad held on the BRCA1 and BRCA2 genes were invalid.  Basically, the court said a natural biological material, such as a gene, cannot be patented.  This was a huge disappointment, not just to Myriad, but to lots of other biotech companies that have been making, or hoping to make, millions of dollars off the genes they had patented. http://scienceblogs.com/geneticfuture/2010/03/jaw-dropping_verdict_against_m.php

Myriad appealed the decision, of course; and in July 2011, a federal appeals court overturned the lower court ruling, reinstating the patents Myriad held on BRCA1 and BRCA2.  http://www.nytimes.com/2011/07/30/business/gene-patent-in-cancer-test-upheld-by-appeals-panel.html

The ACLU and their co-litigant, the Public Patent Foundation, intend to appeal that decision to the U.S. Supreme Court.  http://www.sltrib.com/sltrib/money/52711149-79/court-myriad-genes-aclu.html.csp

Depending on what the Supreme Court says, there could be major changes in the competition and pricing on genetic testing.

otter

Mutd

It's the same issue in Canada too. Only patients with the most severe family histories can get the extention of the standard test (which is called differently but which is pretty much equivalent to the BART in the US). And the Canadian extention test isn't even run concurrently with the regular test ... they first wait for the standard test to come negative, and only then make a decision if the additional test will be run. If the family history isn't strong enough, then it is the end of story.

 Myriad also gives BART add-on for free to the women with very severe histories, but it is run simultaneously, without delays. And the patients who don't get the automatic BART add-on may still request it (not like in Canada).

 So I just don't see how this story can be spinned to be about "a bad lab". All labs want to increase tests, in the US and anywhere else. All insurers (private or national) want to reduce "unnecessary" testing, and sometimes it hurts. And the patents ... the patents are contentious, but aren't they going to start expiring in a year or two anyway?

Anonymous

Ridiculous, how can they hold a patent on a gene found in a person's body?  Wonder who holds the patent on one of my chromosomes? 

Mutd, companies have been known to get extensions on patents and how many of our sisters, daughters, nieces, will find out they have advanced BC  while waiting for the patents to expire.  Don't get me wrong, I fully understand unnecessary testing, cost vs benefit, and such, but I think if you give, say, 10,000 women a $700. test and find out that 100 of them are at risk and give them early treatment, it might be cheaper to do that than to wait and have to pay the full cost of BC treatment for those 100 if they did not have the test and develop BC fully?  (does what I just wrote make sense; not sure how to word it) 

Just thinking out loud.  Lives are at stake.  JMHO

Mutd

Patoo, I'm totally with you! The 10,000 seeking an genetic answer about the BC, it literally happens every month, and dozens of them don't get an answer they need because their genetic test isn't sensitive enough. And not just because of lack of BART! More often, there may be an undiscovered mutation in other risk genes, the likes of ATM, RAD51, BRIP, PALB2 and others (Mary-Claire King, who was the first to home in on the BRCA genes in the 1990s, is pioneering testing for these "lesser genes" in her lab).

Like you say, aggressively treating BC is so expensive, you'd think the insurers and the policymakers will support all these improvements. But in fact they even argue that we use simple mammograms too much, and shouldn't use them like at all in lower-risk women!!! And they also used to say that if a genetic test has less than 10% positive rate, then it means "low risk" and it shouldn't even be considered (they still do in Canada and in the UK, but many US insurers are a bit more open now). It goes so much against my gut feeling, although they probably got a point that testing is really more expensive than the price tag of the test alone. Follow-up surveillance, surgeries, biopsies, counseling all add up, and then there are inconclusive tests too ...

 But my point is, we don't blame mammo labs for the new policy guidelines, or for great difficulties we all face when we need coverage for ultrasound or MRI add-ons to mammograms? Then why do we all blame Myriad alone for the problems with coverage of the BART add-on to the regular BRCA test? If the insurance won't cover it for us, then does it really matter if we have a choice of several competing labs all eager to earn some $$$ by performing this test???

If the patent (which BTW should be impossible to extend, precisely because it is about a "chemical molecule" in a test tube which faithfully matches the real gene inside our bodies... and not something like a drug with a chemical composition which could be tinkered by a shrewd pharma company to extend a patent) ... I repeat, if a patent itself puts public health in danger, then the fed could take it over tomorrow, not waiting for the years of court proceedings. That's because the core BRCA patents belong to a public university, and the discoveries were made with the federal grant. The royalties go back to the university and so the taxpayer gets a return on their investment in research ... but if the greater public good requires un-pateting, then Bayh-Dolyle Act already gives the fed a right to "march in" and cancel the patent. By the time the courts are done, the patents will be naturally expiring anyway, so it just looks like a battle of words to me. They really need to get off their high horse and do something about insurance instead.

Anonymous

Mutd,I  totally agree.  I think I just focused on Myriad because they're right there but, yes, the insurance industry is just as responsible, or shall I say, irresponsible.

msfoti

This exact situation happened in my family not once, but twice. My mother was diagnosed with triple negative breast cancer in 2005 (age 67) and tested negative for BRCA mutations at that time. Two years later, she developed a different type of cancer in the other breast (ER+). When I developed breast cancer last year at 41, I told my surgeon and oncologist this information and they recommended I follow up with a geneticist "just to be sure." After 2 failed lumpectomies (margins weren't clear), a mastectomy and reconstruction, I did see a geneticist with a brain who, after reviewing my atrocious family history (zillions of relatives w/ breast or ovarian cancer going back several generations), recommended that I have the BART testing. He also suspected after looking at my mother's health history/family tree for less than 5 minutes that she probably was in fact positive. Sure enough (after signing several waivers that I would pay the extra $700 -$800 fee for the BART testing if my
insurance wouldn't cover it) the BART test was ordered and I tested positive for a BRCA2 mutation.

My cousin (who's mother died of ovarian cancer and was my aunt/ my mother's sister) had genetic testing back in 2009 and it came up negative; however, like my mother, she didn't have the BART testing either. She and my mother were both re-tested shortly after my results and both were found to have the same BRCA2 mutation as I have. This infuriates me because had I known I was BRCA 2 positive after my mother's two breast cancers, I would have been tested and perhaps had prophylactic surgery BEFORE getting cancer. And now my cousin, who has not yet developed cancer, must somehow process that her first genetic test was worthless and she now must adjust to the scary reality that she is BRCA 2 positive and decide what to do. By the way, my insurance company ultimately paid for all the genetic testing, including the BART test. But many women are not that fortunate - either they are uninsured and can't afford any testing, or they're underinsured with a lousy policy that doesn't cover BART testing. The testing process as it currently stands is inefficient, grossly unfair and inaccurate. As a result of my own testing, I just had my other breast removed (prophylactic mastectomy) and a total hysterectomy on Oct. 19.

Anonymous

msfoti, so sorry you and your family had to go through all that.  How many of our sisters have been diagnosed at Stage IV because of the lack of this test.  I know the studies probably say it's an unnecessary test but put there needs to be some way to alleviate your cousin's (and probably many thouusand others) fears.  You have every right to be angry.