Angelina Jolie and genetic testing
Kat - Now, the big story this month has been Angelina Jolie - genetics finally hitting the headlines. She announced in a very moving article in the New York Times that she'd had a double mastectomy after learning that she had an apparently 87 per cent chance of developing breast cancer and this is because she carries a faulty BRCA1 gene and she does seem to have some family history of this. I mean, it's quite a big decision to make, isn't it?
Matt - Yeah, absolutely. I mean, as we know, her mother died of ovarian cancer and since then we've learned that her mother's sister, so her aunt, also unfortunately died of cancer. So, it was obviously a very, very difficult decision for her in having that test and being put to high risk of developing breast cancer and ovarian cancer.
Kat - And the figure of 87 per cent, it seems remarkably precise, but I'm guessing there's some kind of computer programme that they've put all sorts of things into.
Matt - Yes, absolutely. I mean, the BRCA11 mutation can increase the lifetime risk for women between 60 and 90 per cent which is quite a broad range.
Kat - That's for breast cancer, isn't it?
Matt - For breast cancer, yes and 40 to 60 per cent for ovarian cancer. The 87 per cent figure comes from sciences working out lots of other different risk factors, so other genetic factors, the particular type of mutation that a person might have - age, environment, and lifestyle factors. So, all these stuff gets thrown into a computer programme and out comes the number of 8 per cent and it sounds so precise, but it's probably not quite as accurate as it first seems.
Kat - I mean, but it is basically very high. I think the average risk for women in the general population is about a 12 per cent chance in your lifetime. So that's, if there are 100 women, 12 of them would get breast cancer at some point whereas this is, we're talking about even up to 80 to 90 per cent risk. So, it is very significant, but there's a wider context here as well because currently, the BRCA1 and BRCA2 - these are breast and ovarian cancer genes - there's a big patent case going on in the US right now and we should be hopefully quite soon expecting an answer on this. What is this case about that?
Matt - Yes, it's a really interesting one. So, there's a company called Myriad Genetics who developed a diagnostic test and this tests for the mutations in BRCA1 and the BRCA2 genes which we know increase the risk of breast and ovarian cancer. Now, they own a patent that was granted in the US for that test and what's interesting is that patent also covers the whole gene as well. So, rather than just the test they can sell, they actually own a patent on the gene which can actually prevent people from working on the gene and developing their own tests. So, they have a bit of a monopoly on this testing for these mutations. Now, to gain a patent, you have to show that there has been some invention and you could argue and perhaps quite sensibly that a gene is not an invention. It's come about by an evolutionary process. It happens in nature.
Kat - And also, everyone's genes are slightly different too.
Matt - Exactly, yes. So, how can you pattern a gene? They claim this when they take out of someone's cells and they break it up and put into their genetic test, that creates a new entity, and that's their invention, and that's where they're patent lies. But it's a bit of a grey area.
Kat - It's a very interesting issue because it is basically who owns your genes on the right to test for them because the BRCA1 and 2 tests are very, very expensive. They're several thousand dollars, I understand, whereas now, the cost of genetic sequencing and genetic testing should be coming right down. I think it could be a landmark case.
Matt - Absolutely. I mean, because they own this monopoly, they can charge vast sums of money and that could prevent some women having access to the test for something that could be done for maybe a couple of hundred dollars. And we'd also wouldn't want researchers who are looking at alternative ways, cheaper ways, perhaps there's new discoveries to be made on the BRCA1 mutation. So, it's really important that doesn't happen.