In 1933, a deadly hurricane and disease outbreak decimated the bay's scallop population. Now, a local oyster company is hoping to resurrect the Chesapeake scallop –one harvest at a time.
Last week, the Supreme Court heard Association for Molecular Pathology v. Myriad Genetics, Inc., a case with questions about the legality of patenting human DNA at its center. Some medical professionals say the bigger issue is Myriad Genetics’ lock on a vast database of test results, essential for analyzing mutations in two sections of genetic code that can indicate increased risk of breast and ovarian cancer. A number of groups are working to replicate that and other genetic testing information in a public database. We explore the legal and ethical issues around patenting DNA.
- Lisa Schlager Vice President, Community Affairs for Facing Our Risk of Cancer Empowered (FORCE)
- Robert Nussbaum Holly Smith Professor of Medicine, Chief of the Division of Genomic Medicine, and Member of the Institute of Human Genetics UCSF School of Medicine
- Jorge Contreras Associate Professor of Law, Washington College of Law, American University
MR. KOJO NNAMDIFrom WAMU 88.5 at American University in Washington welcome to "The Kojo Nnamdi Show," connecting your neighborhood to the world. Last week, the Supreme Court heard arguments in the case of the Association for Molecular Pathology versus Myriad Genetics. It's a potentially landmark case involving patents on human DNA.
MR. KOJO NNAMDIThe company isolated sections of genetic code known as BRCA1 and BRCA2 that indicate an increased risk of breast and ovarian cancer and they received several patents on that discovery. The patents are at the center of the Supreme Court case.
MR. KOJO NNAMDIBut some medical professionals say the issue isn't just about the patents, but also about a private company having a lock on a vast database of test results, information they say is essential for research. In response, a handful of groups are working together to create a public database of genetic information.
MR. KOJO NNAMDIJoining us to discuss this is Jorge Contreras. He is an associate professor of law with the Washington College of Law at American University. He's working on a book due out next year on this case. Jorge Contreras, good to see you again.
MR. JORGE CONTRERASThanks very much for having me. It's a pleasure.
NNAMDIAlso joining us in studio is Lisa Schlager. She is vice president of Community Affairs for the organization Facing Our Risk of Cancer Empowered or what that acronym spells FORCE. It's a national non-profit supporting people and families affected by hereditary breast and ovarian cancer. Lisa Schlager, thank you for joining us.
MS. LISA SCHLAGERThank you for having me, Kojo.
NNAMDIAnd joining us from the studios of KQED in San Francisco is Dr. Robert Nussbaum. He is the Holly Smith Professor of Medicine, chief of the Division of Genomic Medicine and also a member of the Institute of Human Genetics at the University of California, San Francisco School of Medicine. Robert Nussbaum, thank you for joining us.
DR. ROBERT NUSSBAUMIt's a pleasure.
NNAMDIAnd I'll start with you. This is complicated stuff so perhaps we can ask you to start by explaining for us what Myriad Genetics did to identify the risk of hereditary breast and ovarian cancer.
NUSSBAUMThey built upon the findings of researchers such as Dr. Mary-Claire King who had located a region on one chromosome that seemed to contain a gene that, when altered, produced an increased risk for early onset hereditary breast and ovarian cancer.
NUSSBAUMAnd they went into that region and fished around collecting fragments of DNA until they found a gene that was altered in a fraction of these families and thereby recognized that this gene and the alteration in that gene was what was responsible for the increased risk.
NNAMDIJorge Contreras, the Supreme Court heard arguments in this case last week. Can you briefly sum up what the court is weighing?
CONTRERASSure, sure. The court took this case to answer one question and the question that they're purporting to answer in the case is whether human genes are patentable. A patent gives whoever is the inventor of the patented invention 20 years where they are the exclusive person who can exploit the invention.
CONTRERASSo in the case of something like Myriad patents on BRCA1 and 2, if those patents are upheld, then for the remainder of the term of those patents, they will continue to have the exclusive right to exploit those genes for all of the tests that we have heard about.
NNAMDIMyriad Genetics was awarded patents in the 1990s on two isolated genes called BRCA1 and BRCA2 as well as diagnostic methods. Women with mutations in those genes are at much higher risk for breast and ovarian cancer. Because of the patent, Myriad is the only place to go for testing and apparently it sets the $3,340 price tag. Jorge, this is likely to be a landmark case. What's at stake here?
CONTRERASAbsolutely. Well, the court back, in 1980, first ruled that you could patent living organisms and made this very broad statement that anything under the sun made by man is patentable, very broad statement. But we've seen over the recent years that they've been pulling back a little bit on that idea in some of their cases that involved biotechnology, research and development.
CONTRERASThere was a case last year in which they basically said it would be difficult in the future to patent diagnostic methods and that case was responsible for some of Myriad's patents already being invalidated in the lower courts. Now what's at stake is whether it's going to be possible for a company to get a patent on the actual, what's called the composition of matter, the DNA molecules themselves once they're isolated and identified from the body.
NNAMDI800-433-8850 is our number, if you'd like to join the conversation. Do you think a company that's spent millions on isolating genetic code should be able to patent it? 800-433-8850, you can also send email to email@example.com or send us a tweet @kojoshow.
NNAMDILisa Schlager, you're a patient advocate and your organization filed an Amicus brief with the court in this case. Your organization was at the Supreme Court last week when arguments were heard. What is the organization's position?
SCHLAGERYes, so just so we lay out the foundation here, FORCE is a national non-profit that represents the hereditary breast and ovarian cancer community. Most of our constituents are carriers of the BRCA1 and BRCA2 mutation. This community faces very unique risks and burdens.
SCHLAGERThe breast cancer risk is as high as 85 percent if a woman carries the BRCA mutation, that's 85 percent over her lifetime. And the risk of ovarian cancer in a woman's lifetime is as high as 60 percent. So knowledge of this BRCA mutation, whether a person carries it, is critical information for a woman and a man.
SCHLAGERMen are affected by this, too. They show increased risk of prostate cancer and pancreatic cancer and male breast cancer. So knowing that one carries this mutation is crucial information for advocating for one's health care and for taking steps to ensure that one either catches cancer early or to ensure that an individual doesn't get cancer.
SCHLAGERThese cancers often strike earlier and are more aggressive so members of our community need to start screening for cancer at much earlier ages. So it's important to have this information. What we find is that because of the patent and because of the very high cost of testing, many people are not able to access this test.
SCHLAGERThey are not able to get access to the testing that could be so critical to ensuring their health care and making sure that they receive appropriate health care from their doctors. This is very concerning to us.
SCHLAGERWe're also concerned that the patent is hindering research because Myriad is not, as you mentioned, sharing this, these variations and the information, the genetic data that they collect with the databases so that other scientists can be looking at that information and utilizing it to come up with more innovative approaches to working with our community.
NNAMDIYou mentioned the term our community on several occasions. You have a personal connection to this issue. Can you talk about why you got involved?
SCHLAGERI do, thank you. So in 1999, in my early 30s, my aunt was diagnosed, my father's sister was diagnosed with breast cancer and she went to Sloan- Kettering in New York where they were doing a study on Ashkenazi Jewish families and women who had premenopausal breast cancer and they asked if they could test her for this genetic mutation.
SCHLAGERShe agreed and she ultimately tested positive for the BRCA1 mutation. And then the study asked if they could test family members. I'm the next oldest female in my family so my aunt called me and this is 1999 so really very early on in the whole BRCA movement. And I didn't know enough about it to really be concerned at the time.
SCHLAGERWe don't have a glaring history in my family because we really only have one woman in every generation on my father's side. A lot of times men are carriers, but they don't exhibit with cancer. We also know that a lot of Jewish people perished in the Holocaust. Jewish people tend to carry this mutation at much higher rates than the general population.
SCHLAGEROne in 40 Ashkenazi Jewish people versus one in 500 of the general population so the Jewish community is affected more. I do come from Jewish ancestry. Ultimately, I was tested through research.
NNAMDIAnd found out that you were a BRCA1 mutation carrier?
SCHLAGERThat is correct.
NNAMDICan you explain what that means?
SCHLAGERThat means that I have a significantly increased risk of breast cancer and ovarian cancer and I had to start surveillance immediately. Most women are not advised to get mammograms until the age of 40 or 50 depending on which guidelines you follow. For people who carry a BRCA mutation, women should start surveillance at the age of 25 with alternating mammograms and breast MRIs as well as visits with breast surgeons for manual exams.
SCHLAGERIn addition, they have to be screened with very much imperfect screening methods for ovarian cancer.
NNAMDIAnd so until you were in your early 30s, you had no idea that there was any predisposition in your family for this?
SCHLAGERThat is correct. I had no idea.
NNAMDIThese tests aren't simply a matter of a positive or a negative. There's a complex analysis behind it. Can you talk about that?
SCHLAGERSo there are three possibilities in testing. One would be that you test positive for a known mutation. In this case, it's pretty certain that you have that increased risk or it is definitely certain that you have that increased risk. The other possibility is that you have a definite negative, that, you know, especially if there's a known mutation in the family and you test negative for that mutation, you know that your risk of cancer is the same as the rest of the general population.
SCHLAGERWhere it gets a little sticky is with a variant of unknown significance, where they find something is off. There's something different with the DNA, but they don't really understand what that means yet. And that's the tougher situation to be in, in a lot of cases, because we're not sure how to handle people who have variants of unknown significance.
NNAMDIDr. Nussbaum, you describe it or you liken it to a spellcheck, the test that is. Can you explain?
NUSSBAUMYeah, I tend to think of genes as being like a sentence in an instruction manual of 25,000 sentences or so in the human instruction manual. And when you're doing a gene test, what you're doing is running a spellcheck to see whether there's an abnormal spelling, a missing word, a duplicated word or perhaps letters that are reversed in a word, to see whether that would then change the meaning of that sentence.
NUSSBAUMEven better than spellcheck is probably the idea of thinking of it as being a proofreading because in addition to just checking for spelling mistakes, what a molecular geneticist does when he does a molecular genetic test is to see whether he can determine or she can determine whether the change is actually altering the function of that gene or in other words the meaning of that sentence.
NUSSBAUMSo it requires not just some sort of automatic spellcheck there's intelligence behind interpretations of these variants.
NNAMDIOn to the telephones, here is Deborah in Washington, D.C. Deborah, you're on the air. Go ahead, please.
DEBORAHThank you. I just wanted to chime in on greatly appreciating that you're discussing this topic because I think it impacts far more people than the general public realizes. Similar to your panel member from FORCE I was not considered a high risk for breast cancer despite the fact that my paternal grandmother and paternal aunt each had breast cancer, but I was initially diagnosed with breast cancer at the age of 42. And despite my diagnosis, it was $300 just to speak to a genetic counselor. Fortunately, my insurance would consider covering the $3300 price tag for testing, but only after I was diagnosed with breast cancer.
DEBRAAnd because there's one group that covers this, it took weeks to get my results back. And I think about women who are trying to decide surgical options or treatments and having to wait the weeks. And just second to that I have two sisters. And insurance would not consider covering the testing price tag until after I received my diagnosis. So until people are being diagnosed, I think the price tag of this brings up a huge ethical question for the individual, but also an ethical question for research.
NNAMDIDebra, thank you very much for your call. We are going to take a short break in a second, but we are inviting other calls at 800-433-8850. Do you think a company that spent millions on isolating genetic code should be able to patent it? 800-433-8850. We invited Myriad Genetics to participate in this discussion. The company provided the following statement, "Nothing is more important to Myriad then helping to save and improve people's 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 research and development, 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.
NNAMDI"Myriad also offers financial assistance programs or free testing for uninsured patients or those in need. We believe the appropriate use of our test can help reduce illness, hospitalizations and other costly interventions and potentially lower overall costs in the healthcare system." There, we've read the Myriad genetic statement. We're going to take a short break. When we come back, we will continue our conversation on DNA patents, but whether or not you approve, you can still call us. 800-433-8850. If the lines are busy, you can shoot us a tweet @kojoshow or email to firstname.lastname@example.org. I'm Kojo Nnamdi.
NNAMDIWelcome back to our conversation on DNA patents. Last week, the Supreme Court heard arguments in the case of Association for Molecular Pathology versus Myriad Genetics. And joining us to discuss this issue is Dr. Robert Nussbaum. He is the Holly Smith professor of medicine and chief of the Division of Genomic Medicine and a member of the Institute of Human Genetics at the University of California, San Francisco. He joins us from studios at KQED in San Francisco.
NNAMDIJoining us in our Washington studio is Lisa Schlager. She is vice president of Community Affairs for the organization Facing Our Risk of Cancer Empowered or FORCE. That's a national non-profit supporting people and families affected by hereditary breast and ovarian cancer. And Jorge Contreras is professor of law with the Washington College of Law at American University. He's working on a book due out next year on this case. We've been inviting your calls at 800-433-8850, but before we took that break, Lisa Schlager, we read a statement from Myriad Genetics. I'd like to hear your response to that statement in general, but specifically the company points to how much its research has helped patients, you would, I think, agree with that.
SCHLAGERThere's no question that this test is crucial to our community. I mean it's actually what defines the BRCA mutation carrier community. And we're not belittling the amount of money that's been invested in this. That said, Myriad was not the only entity involved in the discovery of the BRCA gene. Mary-Claire King and some universities were involved. Myriad just happened to end up investing the money to purchase the rights to this and have further developed it.
NNAMDIAnother issue that...
NUSSBAUMKojo, could I make a comment on that?
NNAMDIPlease do, Dr. Nussbaum.
NUSSBAUMYeah, so first of all, I think that the argument of the amount of money they spent is really quite off the point. I do a lot of genetic testing for -- I run the hereditary cancer clinic, as well as hereditary heart, cardiovascular clinic here at UCSF. There are many, many gene tests that I send off to excellent laboratories that provide very, very good results, without them having to have invested that much money or to have had any patent protection at all. GeneDx, which is an excellent company just up in Gaithersburg started with $25,000 and in one year was profitable, offering gene tests for 10 different genetic disorders. So I don't accept the argument of the amount of investment required to do this.
NNAMDILisa, another issue, is that the test doesn't necessarily pick up all cases. What does that mean for patients?
SCHLAGERWell, what it means is that there are different levels of testing. So the lowest level of testing, which is a little over $500, basically searches for the three most-common genes found in the Jewish community, what's known as the Founder's mutations. And frequently what will happen, especially if somebody is from Ashkenazi Jewish heritage, is they will do that test first. And if a person tests negative for a mutation with that initial screening, then they will go ahead and do what they call a comprehensive panel. The comprehensive panel is much more expensive, as you've indicated. Almost $3500. And that looks for many more mutations that fall under the BRCA1 and BRCA2 genes.
SCHLAGERHistorically, that was the end-all, be-all. But now we're discovering that there are other mutations that are not picked up with this particular comprehensive panel. And so Myriad introduced what they call the BART rearrangement panel, which initially was an additional $700 on top of the comprehensive panel. So obviously what was comprehensive or what they were deeming comprehensive was, in fact, not comprehensive. What's scary is that one company is controlling all of this and there are no systems of checks and balances. Nobody else is able to look at this genetic information and say, hey, you missed something. Or hey, we think that this is being interpreted the wrong way. And that's what's concerning to us as a community affected by these gene mutations.
NNAMDIJorge Contreras, one argument that's been made against these patents is that a person's DNA belongs to him or her, not to a private company that analyzed it, but it seems Myriad Genetics would not agree that it owns anyone's genetic code.
CONTRERASRight, right. So Myriad's patents do not necessarily cover any particular person's DNA. I think that's a little bit of a misconception that might be out there. What their patents cover are the DNA sequences that exist in segments of the BRCA1 and 2 genes, particularly some of the mutations that give rise to the higher incidences of breast and ovarian cancer that we've talked about. The law gets very fuzzy here, though, because of course those sequences occur inside of people. They haven't just discovered something that's outside. And the real patent law question here is whether Myriad has invented something or whether they've simply discovered something that exists in nature.
CONTRERASSo analogies are terrible in the law and if you look at the Supreme Court argument you see everything from chocolate chip cookies to baseball bats being used to describe these different concepts. But you think of a telescope, right, if you use a telescope and look up in the sky and discover a new constellation that no one ever saw before, you can't get a patent on that constellation, even though you were the first one to see it. No one ever saw it before. You can certainly patent the telescope because that's an instrument. It was invented by you. But not the thing you discover with it. And so many people analogize what Myriad has done -- although it's much more complicated than looking through a telescope -- to something like that, using technology that is patented by others to discover a genetic sequence that exists in people.
CONTRERASAnd the argument that patent lawyers will make is well, they did more than that because the DNA that's isolated and purified that we use in these tests is not exactly the same as it is sitting in the nucleus of your cells. In the nucleus of your cell it's attached to a bunch of other molecules, it's inside of a very long chromosome that has hundreds or thousands of other genes on it and it does other things. So the question is whether isolating, purifying that DNA is inventive enough to warrant giving patent protection. And that's what the Supreme Court will decide, hopefully very soon.
NNAMDIDr. Nussbaum, patents expire, including, in this case, Myriad Genetics' patents will begin expiring in 2014. But it's not only about the individual patent, it's about the information in each test that Myriad has run. Can you explain?
NUSSBAUMYeah, Ms. Schlager really explained this very well. And that is that there isn't just one or two or three mutations in the population general, although of course among Ashkenazi Jews there's three very prominent mutations in BRCA1 and 2, but in the general population, in the world's population there are hundreds of thousands of different mutations. And it's often difficult to interpret it. And you get what Ms. Schlager described as a variant of unknown significance. This is a problem not only in BRCA1 and 2, but in all gene testing. And it takes a lot of work to figure out whether a variant of unknown significance causes disease or is just an irrelevant variant, like having blue eyes versus brown eyes.
NUSSBAUMAnd Myriad, up until 2006, was sharing their interpretation of those variants with the research and general community, but then closed their database in 2006 and have not been sharing it after that.
NNAMDIThere are a lot of people who would like to talk about this so if you're trying to join the conversation my advice would be to shoot us an email to email@example.com, send us a tweet @kojoshow or go to our website, kojoshow.org because for the time being the telephone lines are filled. So we'll start with Arthur in Alexandria, Va. Arthur, your turn.
ARTHURThank you, Kojo. My website, koshergoldfish.com discusses the ethics of gene patenting from a Jewish point of view. A panel of rabbis issued a decision saying that they were uncomfortable with gene patenting and would reject that concept. The statement said, "Gene patenting leads us in a direction not conducive to respect for life. The Holocaust has made us aware of the danger of dehumanization."
NNAMDIArthur, do you have a question with that or would you prefer if I made a question out of it?
ARTHURYes, Kojo, the latter.
NNAMDIWell, it seems, Lisa Schlager, in this case that what Arthur's saying is that both from a scientific and in his case, religious point of view, that the case that is being made by Myriad is well, too use a moral term, just plain wrong.
SCHLAGERIt is from my perspective and actually as a Jewish person. And knowing that the Jewish community is affected by this in greater numbers, it is disturbing and it's very much a Jewish issue. It's not only affecting Jewish people, but a larger proportion. And this topic frequently comes up in the Jewish community. In some ways it's concerning because in more traditional and more orthodox communities a BRCA mutation is seen almost as a scarlet letter. It's something that is not desirable and people don't want to talk about, but it's such an important thing for people to be able to be aware of and to share for their own health and the health of their families.
SCHLAGERAnd so I agree with the speaker that this is something that, as a Jewish community, we're to look at it I think I wouldn't necessarily equate it to the Holocaust, but is something of great concern religiously and ethically.
NNAMDIArthur, thank you very much for your call. We move on to Brenda in Ellicott City, Md. Brenda, you're on the air. Go ahead, please.
BRENDAHi. Yes, I'm a retired physician and I, myself, am awaiting testing for MEN type I. I happen to be Jewish, too. And I'd just like to say that unfortunately, although I disagree with it, that's the entrepreneurial approach in this country. It's just the way it is. And I would rather have the testing, even though, you know, I think it should be available to everyone. I wish it were available and it should be made available, but you've got to let people make money or they're not going to do it. It won't be available, unfortunately.
NNAMDIIf there were no profit motive, Dr. Nussbaum, Brenda makes the argument that no test would even exist in the first place. What do you say?
NUSSBAUMWell, there has to be some kind of profit, at least so that people can pay for the work that they do. But for example, hereditary colon cancer, the Lynch syndrome genes that are tested for are not under patent. It's not exclusive to any one company. We can get the testing done very, very well by a number of companies, including Myriad. So I think we should make a distinction between charging for a test and patenting and having exclusive right to offer the test. These are two very different things.
NNAMDIBrenda, thank you very much for your call. On to Polly in Arlington, Va. Hi, Polly.
POLLYHi, Kojo. Thank you. And I'm just following up what a couple of your other people have said. I have the BRCA mutation. I was 63 years old when I first was diagnosed with breast cancer. And I didn't fit any of the criteria. My mother didn't have it, sisters didn't have it. I was too old. I wasn't Jewish. Part of my heritage is southern Italian. I just had an inkling that I might have it and I don't know why. My oncologist didn't think I was BRCA positive, my breast surgeon didn't. I had a second opinion by another oncologist who took a family history and said there is a lot of other cancers in your family, so perhaps you have BRCA.
POLLYAnd with that in mind I pursued this. It took me three years to get any geneticist to actually do the testing. That was with Fairfax Hospital in Georgetown. They all said, well, you're less than 1 percent. I finally said, you know what, let's do it. So it turns out I was positive and went ahead and had, you know, all the things done that are supposed to be done, the mastectomies and the oophorectomies, ovaries out and so forth. But my point is, I think there probably are a lot more people out there that have this then realize it.
POLLYAnd secondly, since that time there have been children of a couple of cousins who have very, very devastating, significant breast cancer and they are not positive for BRCA, but they do have these variants. So that's where we are. I guess my thing to say is I'm happy that Myriad is doing this, but I think the more scientists that can get involved and share their points of view and their insights and skills and so forth the better. So I'd like to see it opened up a bit.
NNAMDIPolly, here is Lisa Schlager.
SCHLAGERThank you so much for sharing that story, Polly. So you're right. Many, many people who carry this do not know it at this point. The estimate is that about 950,000 Americans carry a BRCA mutation and only about 10 percent know it to date. What I want to point out about what you brought up is while there are certain guidelines and certain criteria for who definitely should qualify for testing or for at least seeing a genetic counselor, there are more than one hereditary syndrome out there. As Dr. Nussbaum mentioned, Lynch Syndrome is another one.
SCHLAGERThere's also cowden syndrome. And so I want to emphasize how important it is for individuals not to go and talk to their primary care doctor and just say please test me for the BRCA thing. That's not the way to handle this. This is really important crucial information, and the only people truly trained in analyzing what tests should be done, are folks that have training specifically in genetics. So a certified genetic counselor or somebody that's had extensive training in genetics is the right person to look at family tree, to look at the different cancers in the family, to determine what genetic testing is appropriate because there is more than just the BRCA mutation.
SCHLAGERAnd it would be a shame for an individual to get tested for BRCA when in fact they should be tested for a different hereditary syndrome. And I do want to point out also that it's so important to look at both sides of the family, both and mother and father. I inherited by BRCA mutation from my father. Many people don't think that you could inherit a predisposition to female cancers from a father, but it happens. You are 50 percent of each of your parents, so you have a 50/50 shot of inheriting the genes from either parent, and you have to look at all the cancers on both sides of the family, ovarian, pancreatic, lung.
SCHLAGERThere are so many different types of cancers that have different implications as far hereditary cancer syndromes, so a trained genetic specialist is really the first stop in figuring out what testing, if any testing, is appropriate.
NNAMDIPolly, thank you very much for your call. We're going to take a short break. When we come back, we'll talk with Robert Nussbaum about his sharing clinical research project, and take your calls at 800-433-8850, or you can still send email to firstname.lastname@example.org. Have you had any genetic testing? What was your experience? Give us a call. 800-433-8850. I'm Kojo Nnamdi.
NNAMDIWelcome back to our conversation about DNA patents and the Supreme Court case involving the Association for Molecular Pathology v. Myriad Genetics. We're talking with Dr. Robert Nussbaum. He is the Holly Smith professor of medicine, and chief of the Division of Genomic Medicine, and a member of the Institute of Human Genetics University of California San Francisco. Lisa Schlager is vice president of community affairs for the organization Facing Our Risk of Cancer Empowered, or FORCE, a national nonprofit supporting people and families affected by hereditary breast and ovarian cancer.
NNAMDIAnd George Contreras is a professor of law with the Washington College of Law at American University. He is working on a book due out next year on this case. Robert Nussbaum, over nearly 20 years and having processed millions of tests, Myriad has amassed a huge database of test results. Can you talk about why that information is so important and why you liken it right now to a black box?
NUSSBAUMThe problem is that because of the large number of variants that are present in the BRCA1 and 2 genes, it's sometimes difficult to determine whether a variant really is disease causing or not, and that takes a fair amount of work to figure that out. And that variants differ from different ethnic groups. And so for example, there are populations that have not had very much access to BRCA1 and 2 testing. I just had a patient a little while ago from Eritrea who had BRCA1 testing, and she had four variants, all of them variants of unknown significance, because we didn't know very much about the variability of the DNA sequence in that particular ethnic group.
NUSSBAUMThis is not just a problem of BRCA1 and 2. This is a problem in all genetic testing, and the NIH, through the Genome Institute, as well as the NLM, National Library of Medicine, have now instituted a project which they are going to be funding, to collect variants for all gene tests out of the laboratories where they're being done, connect them up with some clinical information and put it into the public domain so that different laboratories who may see the same variant can now easily find out, whoa, did someone else see that variant?
NUSSBAUMHow did they interpret it? What's their evidence for interpreting it as being pathogenic or being benign or being a variant of unknown significance? It's a way of trying to, in a sense, use the wisdom of the crowdsourcing to try to get better idea of what these variants mean. The problem with BRCA1 and 2 is that the laboratory -- the one laboratory in this country that does the test is not releasing that information. So I decided to start a grass roots project called the Sharing Clinic Reports project, where we are going to the clinics that have ordered these Myriad tests for BRCA1 and 2 and asking them very simply in a de-identified way, so we have no idea who the patient is, to provide us with what variant was found, and how was it interpreted by Myriad, and put that in the public domain so that we can try to begin to share this information and allow researchers and clinicians to compare how they would interpret these different variants.
NNAMDIThere's another movement of patients voluntarily making their own information available. Can you talk about that?
NUSSBAUMYeah. So this is a major effort by a number of different patient care groups, including some of the breast cancer groups, and I think it's an excellent example of patient empowerment and of patients simply saying look, we want the research to go forward. We want this information shared. It's our information, we want people to have it and we want researchers to have it, and so we are developing portals as well as other groups are developing portals to make it possible for patients to submit their data in a de-identified and confidential way.
NNAMDIGeorge Contreras, a legal opinion here. What are the legal implications of recreating a database along the lines of what Robert Nussbaum is talking about?
CONTRERASWell, simply creating the database is a wonderful idea and should not be terribly problematic. If Myriad Genetics decided that this was a bad idea and that it was going to hurt their business, there are things that they could do that legally could make it difficult for these public databases. For example, in Myriad's contracts with the laboratories that do the testing and that Myriad shares its results with that are providing data to the public database, Myriad theoretically could put a contractual clause in its agreement that says this information is all confidential and you can't share it with anyone, and that would prevent -- theoretically legally prevent the labs from sharing the data with the public project.
CONTRERASThey theoretically could even do that with individual patients who received the test as part of the agreement that sign up with -- to take the test. I'm not aware that Myriad has done any of those things or if it has any intention of doing those things, but it's certainly possible.
NNAMDIWell, you may have just placed the thought in their heads, but here is Robert Nussbaum.
NUSSBAUMYeah. I think most -- I've reviewed 50 state law review of genetic information of this kind, and who owns it, and it actually belongs to the clinic that ordered that test and the patient for who the test was done. It doesn't belong to the laboratory that did the test. It was -- the test was bought and paid for. I would be very surprised if Myriad attempted such a contractual arrangement, and if they did, that it would ever, ever stand up.
NNAMDIOne more question, George Contreras. We got an email from Nigesh (ph) . He says, "As a patent professional, and ex-research scientist, I understand both sides of the fight on the Myriad case. What about employing the rights under the Hatch Waxman Act for allowing fair use of the patented claim invention?" Fair use heath exemptions?
CONTRERASSo Hatch Waxman applies to pharmaceutical projects which is this is not diagnostic tests or not pharmaceuticals. But if we -- but the logic may apply and it's something that Congress could certainly decide it wants to do, and Hatch Waxman allows genetic -- not genetic, generic drug competitors to come into the market earlier and to take advantage of some of the regulatory filings made by patented pharmaceuticals before their patents expire to allow generics to enter the market faster and reduce prices for drugs.
CONTRERASUnclear, and certainly Congress could do anything it wants to help the situation with this sort of testing. I'm not sure a Hatch Waxman type approach would be that helpful because frankly the tests that Myriad provides is not something that requires nearly the level of regulatory approval as a therapeutic that's actually going into somebody's body with all the clinical trials and so forth that are needed. It's done in a lab. So it's certainly a nice idea, and there are many things Congress could do.
NNAMDILisa Schlager, after your test results came back positive for the BRCA1 mutation. What came next for you?
SCHLAGERA lot of doctor appointments. Actually, I met with the genetic counselor to receive my results, and she explained the implications at that time. Now, of course in 1999, this was still relatively in its infancy, and a lot of the research out was done on very small groups of individuals. I'd like to point out that so much more has been done to date, but there are still a lot of questions about the implications of these mutations. So for me at the time, it meant much more vigilance with my personal health. Twice a year visits with a breast surgeon, mammograms, breast MRIs, transvaginal sonograms, CA125 lab tests, and that continued for quite some time.
NNAMDIUntil ultimately you made a pretty tough decision.
SCHLAGERI made a very difficult decision.
NNAMDICan you walk us through how and why you opted for preemptive surgery?
SCHLAGERAbsolutely. So surgery is not something that I would push on anybody. It is one of the options though for individuals who carry a BRCA mutation. And for me, I never thought that I would possibly even go down that route, but as I approached the age of 40, all of the research was pointing to the fact that women with BRCA mutations needs to have a prophylactic salpingo oophroectomy which is removal of the ovaries and fallopian tubes. Reason being is ovarian cancer is very difficult to detect, and is very fatal.
SCHLAGERFrequently it's not diagnosed until it's pretty advanced, and unfortunately, the prognosis for individuals diagnosed with ovarian cancer is not good. So with that in mind, I embarked on a fact-finding mission and met with several professionals here in the D.C. area, and even got a leading researcher who was willing to speak with me on the phone, and ultimately asked them all the same question. Do I need to remove my ovaries. The implications of doing that would be putting myself into surgical menopause at the age of 40, which has a whole host of implications in and of itself.
SCHLAGERNot something that I wanted to do. Not something my husband necessarily wanted to see me go through, but they all had the same answer, and the answer was yes, you have to remove your ovaries and fallopian tubes because the risk is simply too high and our screening methods are not good. So I went ahead and decided to go forward with that, and then within the next year or two, ultimately had a prophylactic mastectomy which was a very, very difficult decision because we do have pretty good screening for breast cancer these days.
SCHLAGERBut for me, my mammograms and MRIs were starting to find problematic things and I started feeling like it wasn't an if I was going to get a cancer, but when. And I had two young children at home, and I tend to be a worrier personally, and I decided I needed to take the bull by the horns and be proactive with my health.
NNAMDIWhat do you think sharing information would mean for patients?
SCHLAGERSharing information with other individuals, with family members? Oh. Sharing information with family members is so critical because entire families are affected by this. Aunts, uncles...
NNAMDINo. I mean, Myriad sharing information, not sharing information with family members, but if the Supreme Court rules says against Myriad and the information is allowed to be shared with other researchers.
SCHLAGEROh, my goodness. We think this is going to open up the floodgates. We think that it will basically open the doors to a lot more options for testing, better options, less expensive options, more access. We also think that there are going to be more therapies that are going to make progress and be introduced at a faster pace, and I think George has a comment here.
CONTRERASOh, yeah. I didn't meant to cut off at all.
CONTRERASI just wanted for people to be very clear that even in Myriad loses every point in the Supreme Court case, it would still not be required to make its database public. The data that Dr. Nussbaum has been talking about could still be maintained proprietary by Myriad. The patents being invalidated would mean other labs could start to offer test.
SCHLAGERThat's right. But Myriad is going to have an advantage for some time, because they have been collecting this information and they will build on that. And so in a way it's been somewhat of disincentive for companies that are considering entering the marketplace, but eventually other companies will catch up.
NNAMDIRobert Nussbaum, we're running out of time very quickly, but there's another broader issue with our health system that goes beyond this one case. You point out that we could be analyzing much more with any given test, but doctors and labs simply don't have the time or resources to do that.
NUSSBAUMYeah. That's part of what NIH is trying to overcome, and that's develop simpler methods for laboratories and doctors to be able to share this information and make it available so that we can really have a national consensus on what variants mean. I think it's important for people to recognize that when you detect a variant in a family that has a lot of breast cancer in it for example, the risk from that variant may not be the same as when that same variant is found in an individual who has absolutely no family history at all of breast cancer.
NUSSBAUMWe don't really fully understand what controls what we call the penetrance, how likely it is someone's going to develop a disorder just because they're carrying a variant. We absolutely have to share this information. The way it's currently working, if Myriad does not open up its database, I think the need for things like the Sharing Clinical Reports project will become even greater. We have to open up the...
NNAMDIAnd I'm afraid we're out of time. Dr. Robert Nussbaum is the Holly Smith professor of medicine, and chief of the Division of Genomic Medicine, and a member of the Institute of Human Genetics University of California San Francisco School of Medicine. George Contreras is a professor of law with the Washington College of Law at American University. And Lisa Schlager is vice president of community affairs for the organization Facing Our Risk of Cancer Empowered, or FORCE. Thank you all for joining us, and thank you all for listening. I'm Kojo Nnamdi.
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