As the Supreme Court decides whether genes can be patented, one geneticist has taken matters into his own hands. Dr. Robert Nussbaum is less worried about the owning of genes and more concerned about the monopoly that private companies have over genetic intellectual property – specifically what the mutations in a gene might mean for his patient's health. He tells Brooke how he’s challenging the stranglehold on that information one patient at a time.
We contacted Myriad for comment and they responded:
“Nothing is more important to Myriad than helping to save and improve peoples’ lives and more than one million patients have benefitted from Myriad’s BRACAnalysis test for hereditary breast and ovarian cancer. As a result of Myriad’s $500 million investment in R&D, today more than 95 percent of patients in the U.S. have access to the BRACAnalysis test through private insurance or other coverage, and patients’ average out-of-pocket cost is only $100. Myriad also offers financial assistance programs or free testing for uninsured patients or those in need."
Modest Mouse - Here It Comes
BROOKE GLADSTONE: Recently, the Supreme Court also heard a case regarding the patenting of genes, specifically two genes named BRCA1 and BRCA2, related to cancers of the breast, ovaries and the fallopian tubes. The genes have been patented by a company called Myriad and the High Court's decision, expected by midsummer, could end those patents and others like them. But whatever that decision, certain vital genetic information already is privately owned, for instance, information that Myriad has collected for 17 years about BRCA1 and 2
We’re talking about tens of thousands of data points about what mutations in those genes might mean. So, if you're a woman worried about breast cancer and your doctor takes a genetic sample, he pretty much has to send it to Myriad, because only Myriad can draw from the tests of all those other people to give you an informed answer about your odds of getting the disease.
Well, a geneticist named Robert Nussbaum at the University of California, San Francisco wants to break Myriad's monopoly on its information by getting access to those tests and making public Myriad’s interpretations of those tests.
DR. ROBERT NUSSBAUM: When you analyze a gene like BRCA1 and 2, you find variants, and if these variants are found we still don't know whether that difference matters. Was it a difference that put somebody at a eight-fold higher risk for developing breast cancer in their lifetime? And interpreting what a variant means is at the core of doing genetic testing and interpretation.
BROOKE GLADSTONE: And Myriad is in the best position to do that because it has the most information about those variants.
DR. ROBERT NUSSBAUM: Exactly. They’ve been collecting information over many, many years. And then as of approximately 2006, they decided to no longer share the variants and their interpretation of those variants with the public.
BROOKE GLADSTONE: They’ve collected 17 years’ of information. Why did it suddenly take the last seven years of information out of the public domain?
DR. ROBERT NUSSBAUM: They say that they took it out of the public domain because they thought the information was being misused for clinical purposes. And I find that a very difficult explanation, because the information is being not misused, used, all the time in clinics to make very serious decisions about medical care. My interpretation of why they closed it is they started to see the timeline of when their patent would either be overturned or would expire, and they felt that by keeping this as intellectual property, they would still be able to claim that even though you could have the test done in any laboratory, why would you want to have it done anyplace else, because we have the best data to interpret these results?
BROOKE GLADSTONE: And that interpretation led essentially to your “Howard Beale moment” [LAUGHS], and you decided that Myriad's monopoly on this test simply wouldn't do. So you took on a multimillion-dollar-company with a 17-year head start, how?
DR. ROBERT NUSSBAUM: A lot of the testing is being done in large clinics, so I went to these clinics, most of which are run by cancer genetic specialists like myself, and I explained to them all I wanted was Myriad's reading of the sequence. What did they find? Is there a variant or not? And how did they interpret that variant? Put that in the public domain, so that other laboratories can look at that database and say, oh, so they interpreted it that way, well we found the same variant, and we don't think that that's really what that variant means. I wonder who's right? The whole point is to have a community of molecular geneticists analyzing this data and deciding, almost as a crowd-sourced curation, what do we think these variants mean?
BROOKE GLADSTONE: Okay, so these variants in the gene that can indicate possibly one’s potential for developing cancer, how many of them do you think there are?
DR. ROBERT NUSSBAUM: Oh, there are tens of thousands. These two genes are very large.
BROOKE GLADSTONE: So you've been at this now for about a year, and you’ve gotten doctors and clinics –
DR. ROBERT NUSSBAUM: Yeah.
BROOKE GLADSTONE: - to send you how many tests?
DR. ROBERT NUSSBAUM: So, so far we've got about 3,000 reports, of which 1,000 are unique variants, and they are in a public database, a US government website run by the National Library of Medicine, with Myriad's interpretation of those variants.
What will happen now is that I and some of my colleagues will start getting on the telephone and calling some of the largest clinics in the country, places like MD Anderson, Moffitt Cancer Hospital, Sloan-Kettering. They have thousands and thousands and thousands of tests that they've done since 2006. They have all that information in an electronic database. All they need to do is strip the identifier out and send me the Excel spreadsheet. So I think with a couple of dozen more phone calls, I can get another 50,000 variants.
BROOKE GLADSTONE: That's pretty awesome.
DR. ROBERT NUSSBAUM: I have no doubt!
BROOKE GLADSTONE: Give me an example, if you can, of how this sharing yields results. Is there a concrete case you can cite?
DR. ROBERT NUSSBAUM: Sure. Very recently, one of my colleagues had a large family with inherited colon cancer, which looked a lot like a syndrome called Lynch syndrome, due to defects in a set of genes that are called mismatch repair genes. She sent the test off to a company (the company happened to be Myriad), and the result came back negative: no disease-causing mutation found. She looked at the family history and she said, “I don’t believe it.” So she arranged for another member of that same family to go get testing done at another laboratory - they found an abnormality -
BROOKE GLADSTONE: Mm.
DR. ROBERT NUSSBAUM: - then went back to Myriad and said, “Are you sure?” And they went back and they checked and, indeed, the variant was there. The whole idea here is having the ability to have second opinions. Myriad has its own way of interpreting variants. I'm sure it's very good, but it's not as good as all of the minds of the world thinking about what those variants mean.
BROOKE GLADSTONE: Most people look at the Supreme Court hearings as an opportunity for real change, when it comes to the private ownership of what we are made of. Is that what this means to you?
DR. ROBERT NUSSBAUM: Well, I think there is a philosophical or humanist side of this that I think is very important, but my real focus is on delivering medical care. Let me give you an example. Suppose every radiology department in the country took x-rays, interpreted their results and kept them private to themselves? There were no publications showing, you know, this spot on a lung or that spot on a liver and how that was interpreted and what the follow-up was that showed that, indeed, that spot was a this or a that. How much progress would we have made in interpreting CAT scans or MRI scans under that circumstance? I see this being very analogous.
I don't like to sit down across from a patient and say to them, “Well, we tested your gene, we found this variant. I don't know what it means.” And they say, “But [LAUGHS] why did you even bother to do the test?” And my answer is – I didn't know that that was the result we were gonna get before we ran the test. And now I've introduced a huge amount of worry into this patient's mind, without being able to satisfy it one way or the other. I can't tell them what it means. That happens to me pretty much every week. I just don’t think that's the way I want to practice medicine.
BROOKE GLADSTONE: Dr. Nussbaum, thank you very much.
DR. ROBERT NUSSBAUM: You’re welcome. Thanks for having me.
BROOKE GLADSTONE: Geneticist and Dr. Robert Nussbaum.
A confession: We've excoriated other media outlets for not asking doctors about their potential conflicts of interest, but we failed to ask Dr. Nussbaum. Instead, after our interview, he told us. He wrote, quote, “I want to make sure you know that I'm also serving as a paid consultant for Complete Genomics, involved in developing whole genome sequencing. I am paid for my work as a consultant, but the payments are submitted to the University of California and are used by the University to help pay my university salary. I don't garner any additional money for that work. Complete Genomics does not currently provide breast cancer sequencing or any clinical sequencing services at all but could do so in the future.” “There you have it,” he wrote. Don’t say you weren't warned.”
We also got a statement from Myriad, which you can find on our website, onthemedia.org.
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