On Angelina Jolie, BRCA1 and BRCA2 genes, cancer risk, and gene testing patents

Posted by Sappho on May 15th, 2013 filed in Health and Medicine

I’m planning to get back to my nature/nurture series sometime soon, with a post about genes and the environment, at which point I’ll also be writing about genes and cancer. But in the meantime, the BRCA genes and breast cancer are in the news, with Angelina Jolie’s decision to have her breasts removed, on learning that she carried a gene that gave her an 85% risk of getting breast cancer if she left them on. As it happens, I already know a bit about the company that offers this genetic testing (not the one I tested with, which is a less expensive consumer genomics company that tests only for a few of the BRCA variants, but one that offers more expensive medical tests), because I got genetic counseling, after I finished treatment for endometrial cancer, to see whether my family history indicated enough risk to refer me for further testing for something called Lynch Syndrome, that dramatically increases the risk of endometrial and colon cancer. The question came up, on the 23andme forums, why the Myriad test was so much more expensive than the 23andme one. I am reproducing, as a blog post, the answer I gave there:

23andme tests some BRCA1 and BRCA2 variants; Myriad tests, to the best of my knowledge, for all known BRCA1 and BRCA2 gene variants. There are two aspects to this. One is that it really is more expensive to test for all variants (whole genome sequencing costs way more than 23andme’s $99 test, and can’t currently be offered at 23andme’s price). The other is that Myriad owns patents on testing for certain important BRCA genes, and 23andme can’t legally do the same BRCA testing that Myriad does, at this time. (I’m not sure exactly how this works legally; will the ability to test for the genes go generic at some point in the future, the way pharmaceuticals do?) Myriad has a number of cancer specific tests, which test for the genes that increase risk most for a particular cancer. There is one for hereditary breast and ovarian cancer, one for hereditary colon and uterine cancer, one for hereditary colorectal polyps and cancer, one for hereditary melanoma, etc. If you have a likelihood of cancer in your family, you see a genetic counselor first, and then get referred for the Myriad test. If your family risk is high enough, and depending on your insurance company, the test may be covered by insurance. Likely, with Angelina Jolie’s family risk, her test was covered (but then, she has the money to pay thousands of dollars for the test anyway). All of the tests cost thousands of dollars.

I didn’t, in this answer, talk about how much of Myriad’s higher cost is due to actual increased cost in looking at all the gene variants for the cancer genes they cover, and how much is due to their being able to charge more because they have patents on certain tests and don’t have competition. The reason is that I don’t know the answer. (Note that the test that I would have gotten from Myriad if I had met Amsterdam criteria for Lynch syndrome also would have cost thousands of dollars, and I don’t know that Myriad has patents on those genes.) Blogs and articles have been debating the matter, though, in the wake of Angelina Jolie’s revelation, as a case regarding the limits of said patents makes its way to the Supreme Court (Association for Molecular Pathology v. Myriad Genetics), so here are a few links:

In case you somehow missed it, here’s Angelina Jolie’s op ed.

23andme’s blog points out that its test only looks at three variations of BRCA1 and BRCA2 (along with some other genes more weakly associated with breast cancer risk), and that the $99 test should not be considered diagnostic.

The blog of the Stanford Center for Law and the Biosciences gave an oral argument recap last month on AMP v. Myriad Genetics.

… To briefly recap the facts: In 1994, researchers at the University of Utah discovered that several mutations in the genes BRCA1 and 2 corresponded to a significantly elevated risk of breast and ovarian cancer. They patented various aspects this discovery, such as methods for using the sequence of these mutations to test for breast cancer, a kit to perform that test, and–now at issue before the Supreme Court–the “genes” themselves. In reality, the claims directed toward the genes were of a variety of types: the genes isolated from chromosome 17, the so called “isolated DNA” claims; the same genes as in the isolated DNA but missing their non-coding portions, or the cDNA (cloned DNA) claims; and primers, or short DNA sequences, 15 nucleotides in length, used to clone BRCA1 and 2. The researchers then exclusively licensed their patents to Myriad Genetics.

Out of concern, a consortium of BRCA researchers, labeled the Association of Molecular Pathology, in conjunction with the ACLU, filed suit against the PTO and Myriad Genetics to invalidate the patents. The district court had concluded that almost all of Myriad’s patents’ claims were invalid, but, on appeal, the Federal Circuit mostly reversed, affirming only the district court’s invalidation of one type of method claim. The parties petitioned the Supreme Court for certiorari in 2011, which, in 2012, the Supreme Court granted, vacated, and remanded in light of Mayo v. Prometheus. On remand, the Federal Circuit issued an almost identical decision, which the parties again appealed, and the Supreme Court again took up…

Here’s the full SCOTUSblog coverage on Association for Molecular Pathology v. Myriad Genetics, Inc.

Jesse Holland at Salon and Joseph E. Stiglitz at Slate argue for limits on patents related to testing for particular human genes.

Jon Healey at the Los Angeles Times discusses the background of the Supreme Court gene patent case.

Kevin E. Noonan at Patent Docs, a Biotech & Pharma Patent Law & News Blog writes on The Myriad Case and “Gene” Patents: Much Ado about Nothing?

Razib Khan asks what geneticists think of the Myriad gene patent case and gets some responses in comments.

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