Nature vs Myriad Genetics
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talkpoliticsEven without Angelina Jolie, BRCA1 and BRCA2 genes were already destined to become world-famous. By the time the Hollywood celebrity announced her double mastectomy after a test that had found a mutation carrying a lethal risk of cancer, those two genes had already been subject of super-lucrative business, and the centerpoint of a protracted four-year court case that eventually reached the SCOTUS.
After the court decision in the middle of this month, neither naturally occurring human genes nor the method of isolating them could be patented any more. Thus, BRCA1 and BRCA2 turned into a discovery of great importance for the life of hundreds of thousands of people around the world, and possibly a symbol of the lifting of artificial and useless barriers to scientific progress.
Despite the initial reactions of immense jubilation by women in urgent need of tests for these two particular genes, and the joy of the molecular biologists in general, the precedent has left a lot of unresolved questions. Starting with the purely economic ones (like, whether gene tests would keep being a profitable business at this point), to the specifics of financing scientific discovery, to the more fundamental questions (like, how are new discoveries being made in the information age). Although at least nominally the decision only applies to the US territory, due to America's position of a global leader in scientific research (with a budget for the so-called R&D worth $366 billion in 2001, against "just" 275 billion of all 27 EU member states), the debate about what's next is now gaining a global context.
Indeed, the timing between the publication of the daring and heartwarming account of the Hollywood celebrity in NYT, and the SCOTUS contemplation on the court case against Myriad Genetics may've been more like a coincidence. But still, it provided the issue with a name of its own (now colloquially known as the "Angelina Jolie case" around the mainstream media), and has added immense publicity to the problem of striking discrepancy between the scientific realities of today and the way they're being handled legally.
For example, any American would soon be able to get a full map of their genes for $1000. Since scientists estimate their number at roughly 22 thousand, this means that the gene mapping would cost about 5 cents per gene. But, until a couple of weeks ago, discovering the rare mutation of BRCA1 and BRCA2 that leads to high risk of breast and ovary cancer required over $3000. The reason was that, as incredible as it may sound, isolating those two genes used to be patented by the Myriad Genetics corporation. Or, as the tabloids summarized it, technically, Angelina Jolie did not really "own" her genes - the ones which were potentially on their way to killing her. For thousands of other women, the unreasonably high cost of this test (which most health-care institutions understandably refuse to cover), has often turned out to be an insurmountable obstacle.
In this sense, the SCOTUS decision to abolish the right on patenting human genes was as long overdue as it was necessary and logical. The defense of Myriad Genetics argued that isolating the genes by itself constitutes an innovation, which was actually a notion that had gained mainstream status three decades ago. Since 1984 almost 1/4 of the human genes have been registered at the US Patent and Trademark Office by various universities and pharmaceutical companies. This situation largely reflected the realities of the 80s and 90s, when these technologies were still at a rudimentary level, and localizing a gene within the entire human genome was a painstaking and arduous process. But in the meantime, scientific discoveries were gaining momentum, and as the SCOTUS has now unanimously postulated, the very idea that something created by nature could ever be patented, now looks preposterous.
To most molecular biologists and geneticists, the significant lagging of legislation behind scientific progress had already created a serious imbalance. Although initially the idea was that the patenting process would create incentives for business to invest into costly and profit-risky research, in the last decade it has led the scientific community to a point that developing alternative tests was rendered virtually impossible, and the experimentation field was narrowed down almost to a standstill. Most scientists are interested in retaining broad access to the data. And indeed they do need the industry to be on their side. But, as soon as patents turned into something that was blocking the possibility for research rather than enhancing it, the majority of scientists felt they'd rather quit trying than continuously bump their heads against a wall.
In this dispute, Myriad Genetics was not just part of the medicine industry, but a very eloquent example of all the flaws in the system. The company was not only fiercely defending its exclusive rights on those genes, but as a monopolist it was imposing prices that were incomparable to anything else in the business. As the famous oncologist David B Agus wrote in a NYT column in May, while a mutation test for BRCA1 and BRCA2 could cost up to $3400, another leading company in the field, 23andMe, charges only $99 for genetic testing for high risk of 120 hereditary diseases, plus mutations related to another 50 diseases.
Witnessing the aggressive protection of these patents in the US and the extremely high prices leaves a particularly bad taste in the mouth, especially given the way the BRCA1 and BRCA2 genes were discovered. The existence of these genes had been actually discovered by a team led by prof. Mary-Claire King back in 1990 at the labs of Berkeley (the story became the central plot for the new movie Decoding Annie Parker starring Helen Hunt which is to enter the theaters this fall). The research was sponsored by the National Health Institute, i.e. the American taxpayers. Based on her work, in 1994 King and a group of other scientists, again partly state-funded, managed to completely isolate and decode the DNA sequence of BRCA1, and later of BRCA2. Both genes are responsible for "repairing" DNA defects in the cells that increase the risk of breast and ovary cancer by 80% and 50%, respectively (this mutation occurs in one of 400 women).
One of the scientists who were working on the project, biologist Mark Skolnick was at the time among the creators of the Myriad Genetics company. Based on the isolated genes a patent was registered on behalf of the company, and then a method for analyzing the hereditary mutation leading to higher cancer risk was developed. King and her team have got exactly zero dollars point zero cents out of all the revenue from more than 250 thousand tests that have been carried out since then.
That's why for many researchers the SCOTUS decision is not really the end of the case, but more like a step in the larger debate on the relations between business, science and the state. As a rule, the riskiest projects are partially or completely funded with state money, but the scientists are seldom able to turn their innovations into mass products - that's the role of the private industry. But in the case with the expensive BRCA1 and BRCA2 tests a situation emerged where the patent has metaphorically bit the hand of the taxpayer who had fed it in the first place. So if there's government participation in a given research, it should be coupled with explicitly stipulated requirements against monopolizing the data and innovations in favor of a separate company.
Although this debate is only now gaining momentum, after the SCOTUS decision there's been a wave of relief among the US scientific community. A number of geneticists have been cited saying they'll finally be able to commence work on projects that had remained blocked for years. As prof. Lori Andrews, the director of the Institute for Science, Law and Technology of Chicago commented, until now more than half of the genetic labs across America had rejected research projects due to concerns of legal claims for breaching patent rights. And now there's a chance that the scientific processes in genetics could start following a more natural pattern, because in the 21st century more and more discoveries are born not in isolated labs, but through gradually upgrading prior knowledge and cooperation between scientists, involving the sharing of vast massifs of information.
Ultimately, the big winners from this decision are the patients. In the last couple of weeks several companies have announced that they're prepared to provide new tests for BRCA1 and BRCA2. One of them, DNATraits, even promises a $955 price, and their competitor Ambry Genetics is offering a $330 package including analyses of four more additional genes that are also related to higher breast cancer risk. This dynamic development is ultimately the very best news possible for the world beyond America. Granted, in most developed countries patent law does not reach that far, and the aggressive attempts of Myriad Genetics throughout the years to step into the EU market and in other countries has been met with fierce resistance (similar to Monsanto's failed EU-incursion attempts regarding GMOs). After long debates, Myriad Genetics has actually quit its claims in the UK and Canada. But despite that, the stagnation at the largest and most dynamic health market, the US one, was indirectly stifling global development in the field.
The news is really not particularly devastating for Myriad Genetics, though, because they still practically remain a monopolist. Genetic testing is yet to gain popularity, and the long experience gives the company a huge advantage in front of its rivals (the more complicated cases will still be redirected to them for a second opinion, anyway). And the second part of the SCOTUS decision has also allowed patenting man-made so-called "synthetic DNA", which of course makes a lot of sense. This legal protection promises to additionally reinforce the interest in the field.
Meanwhile, given the expected boom in the genetic industry, many voices are now predicting that patenting could eventually become obsolete altogether. For example, in the dynamic computer software industry no one seriously bothers to waste time and effort for all that long bureaucratic process any more. And since this SCOTUS decision has opened the gates to the genetic industry, things are going to start developing real fast there, too.
After the court decision in the middle of this month, neither naturally occurring human genes nor the method of isolating them could be patented any more. Thus, BRCA1 and BRCA2 turned into a discovery of great importance for the life of hundreds of thousands of people around the world, and possibly a symbol of the lifting of artificial and useless barriers to scientific progress.
Despite the initial reactions of immense jubilation by women in urgent need of tests for these two particular genes, and the joy of the molecular biologists in general, the precedent has left a lot of unresolved questions. Starting with the purely economic ones (like, whether gene tests would keep being a profitable business at this point), to the specifics of financing scientific discovery, to the more fundamental questions (like, how are new discoveries being made in the information age). Although at least nominally the decision only applies to the US territory, due to America's position of a global leader in scientific research (with a budget for the so-called R&D worth $366 billion in 2001, against "just" 275 billion of all 27 EU member states), the debate about what's next is now gaining a global context.
Indeed, the timing between the publication of the daring and heartwarming account of the Hollywood celebrity in NYT, and the SCOTUS contemplation on the court case against Myriad Genetics may've been more like a coincidence. But still, it provided the issue with a name of its own (now colloquially known as the "Angelina Jolie case" around the mainstream media), and has added immense publicity to the problem of striking discrepancy between the scientific realities of today and the way they're being handled legally.
For example, any American would soon be able to get a full map of their genes for $1000. Since scientists estimate their number at roughly 22 thousand, this means that the gene mapping would cost about 5 cents per gene. But, until a couple of weeks ago, discovering the rare mutation of BRCA1 and BRCA2 that leads to high risk of breast and ovary cancer required over $3000. The reason was that, as incredible as it may sound, isolating those two genes used to be patented by the Myriad Genetics corporation. Or, as the tabloids summarized it, technically, Angelina Jolie did not really "own" her genes - the ones which were potentially on their way to killing her. For thousands of other women, the unreasonably high cost of this test (which most health-care institutions understandably refuse to cover), has often turned out to be an insurmountable obstacle.
In this sense, the SCOTUS decision to abolish the right on patenting human genes was as long overdue as it was necessary and logical. The defense of Myriad Genetics argued that isolating the genes by itself constitutes an innovation, which was actually a notion that had gained mainstream status three decades ago. Since 1984 almost 1/4 of the human genes have been registered at the US Patent and Trademark Office by various universities and pharmaceutical companies. This situation largely reflected the realities of the 80s and 90s, when these technologies were still at a rudimentary level, and localizing a gene within the entire human genome was a painstaking and arduous process. But in the meantime, scientific discoveries were gaining momentum, and as the SCOTUS has now unanimously postulated, the very idea that something created by nature could ever be patented, now looks preposterous.
To most molecular biologists and geneticists, the significant lagging of legislation behind scientific progress had already created a serious imbalance. Although initially the idea was that the patenting process would create incentives for business to invest into costly and profit-risky research, in the last decade it has led the scientific community to a point that developing alternative tests was rendered virtually impossible, and the experimentation field was narrowed down almost to a standstill. Most scientists are interested in retaining broad access to the data. And indeed they do need the industry to be on their side. But, as soon as patents turned into something that was blocking the possibility for research rather than enhancing it, the majority of scientists felt they'd rather quit trying than continuously bump their heads against a wall.
In this dispute, Myriad Genetics was not just part of the medicine industry, but a very eloquent example of all the flaws in the system. The company was not only fiercely defending its exclusive rights on those genes, but as a monopolist it was imposing prices that were incomparable to anything else in the business. As the famous oncologist David B Agus wrote in a NYT column in May, while a mutation test for BRCA1 and BRCA2 could cost up to $3400, another leading company in the field, 23andMe, charges only $99 for genetic testing for high risk of 120 hereditary diseases, plus mutations related to another 50 diseases.
Witnessing the aggressive protection of these patents in the US and the extremely high prices leaves a particularly bad taste in the mouth, especially given the way the BRCA1 and BRCA2 genes were discovered. The existence of these genes had been actually discovered by a team led by prof. Mary-Claire King back in 1990 at the labs of Berkeley (the story became the central plot for the new movie Decoding Annie Parker starring Helen Hunt which is to enter the theaters this fall). The research was sponsored by the National Health Institute, i.e. the American taxpayers. Based on her work, in 1994 King and a group of other scientists, again partly state-funded, managed to completely isolate and decode the DNA sequence of BRCA1, and later of BRCA2. Both genes are responsible for "repairing" DNA defects in the cells that increase the risk of breast and ovary cancer by 80% and 50%, respectively (this mutation occurs in one of 400 women).
One of the scientists who were working on the project, biologist Mark Skolnick was at the time among the creators of the Myriad Genetics company. Based on the isolated genes a patent was registered on behalf of the company, and then a method for analyzing the hereditary mutation leading to higher cancer risk was developed. King and her team have got exactly zero dollars point zero cents out of all the revenue from more than 250 thousand tests that have been carried out since then.
That's why for many researchers the SCOTUS decision is not really the end of the case, but more like a step in the larger debate on the relations between business, science and the state. As a rule, the riskiest projects are partially or completely funded with state money, but the scientists are seldom able to turn their innovations into mass products - that's the role of the private industry. But in the case with the expensive BRCA1 and BRCA2 tests a situation emerged where the patent has metaphorically bit the hand of the taxpayer who had fed it in the first place. So if there's government participation in a given research, it should be coupled with explicitly stipulated requirements against monopolizing the data and innovations in favor of a separate company.
Although this debate is only now gaining momentum, after the SCOTUS decision there's been a wave of relief among the US scientific community. A number of geneticists have been cited saying they'll finally be able to commence work on projects that had remained blocked for years. As prof. Lori Andrews, the director of the Institute for Science, Law and Technology of Chicago commented, until now more than half of the genetic labs across America had rejected research projects due to concerns of legal claims for breaching patent rights. And now there's a chance that the scientific processes in genetics could start following a more natural pattern, because in the 21st century more and more discoveries are born not in isolated labs, but through gradually upgrading prior knowledge and cooperation between scientists, involving the sharing of vast massifs of information.
Ultimately, the big winners from this decision are the patients. In the last couple of weeks several companies have announced that they're prepared to provide new tests for BRCA1 and BRCA2. One of them, DNATraits, even promises a $955 price, and their competitor Ambry Genetics is offering a $330 package including analyses of four more additional genes that are also related to higher breast cancer risk. This dynamic development is ultimately the very best news possible for the world beyond America. Granted, in most developed countries patent law does not reach that far, and the aggressive attempts of Myriad Genetics throughout the years to step into the EU market and in other countries has been met with fierce resistance (similar to Monsanto's failed EU-incursion attempts regarding GMOs). After long debates, Myriad Genetics has actually quit its claims in the UK and Canada. But despite that, the stagnation at the largest and most dynamic health market, the US one, was indirectly stifling global development in the field.
The news is really not particularly devastating for Myriad Genetics, though, because they still practically remain a monopolist. Genetic testing is yet to gain popularity, and the long experience gives the company a huge advantage in front of its rivals (the more complicated cases will still be redirected to them for a second opinion, anyway). And the second part of the SCOTUS decision has also allowed patenting man-made so-called "synthetic DNA", which of course makes a lot of sense. This legal protection promises to additionally reinforce the interest in the field.
Meanwhile, given the expected boom in the genetic industry, many voices are now predicting that patenting could eventually become obsolete altogether. For example, in the dynamic computer software industry no one seriously bothers to waste time and effort for all that long bureaucratic process any more. And since this SCOTUS decision has opened the gates to the genetic industry, things are going to start developing real fast there, too.
(no subject)
Date: 26/6/13 15:05 (UTC)(no subject)
Date: 26/6/13 16:39 (UTC)Computer software is usually protected by copyright law rather than patent law. I invented a process a number of years ago that would have been rendered useless by any attempt to assert propriety. Its true value could only be realized when it was freely available for general use. This is sometimes the case with computer software, especially open source software.
(no subject)
Date: 26/6/13 16:46 (UTC)There's already an argument brewing against this among some researchers. What SCOTUS decided is that synthetic DNA, specifically DNA stripped of all non-coding sections (called cDNA) is patentable subject matter. Under US patent law, that falls under §101. However, it's not the last hurdle. §103 requires, among other things, non-obviousness. To quote from this post (http://www.patentlyo.com/patent/2013/06/myriad.html), "if I were a biotech patent owner I wouldn't be celebrating just yet. cDNA patents are easier to design around, and under Prometheus v. Mayo they are probably obvious once we assume knowledge of the naturally-occurring gene sequence." So whether cDNA can, in fact, be patented in most cases will likely be the subject of further litigation.
(no subject)
Date: 26/6/13 17:29 (UTC)(no subject)
Date: 26/6/13 18:39 (UTC)We hear about "obesity gene", "homosexuality gene", "cancer gene", even "intelligence gene". Various sci-fi scenarios paint a picture of a utopian (or dystopian?) society where humans will be able to manipulate their own genes to make themselves superhuman. Conversely, if someone gets sick, "something must be wrong with the genes of their immune system". And so on and so forth. One would've thought a disease is mostly triggered by having an unhealthy lifestyle, eating junk food, not doing physical exercise, not taking vitamins and drinking a lot of alcohol and smoking a lot, etc. But even for that some are blaming the genes now. The genes, you see, are at the bottom of everything!
Take the FTO gene for example, the so called "obesity gene". One'd get the impression we're at the brink of curing obesity if we manage to understand exactly how the insufficient amount of the biomolecule originating from FTO causes obesity. But as it turns out, this gene is just one among a horde of genes that are somewhat related to this condition, and only 8 of them have been found so far. Same about the "diabetes gene", which is actually a whole crowd of genes, 19 of which have been identified. And neither of them alone is sufficient for explaining diabetes, let alone forecasting it and treating it.
It's clear that not only is it not possible to have a medicine that would restore the normal functioning of a single gene, but even a sophisticated combination of molecules normalizing the functioning of 10 problematic genes or more would still be insufficient to completely cure a disease. The scientists have stopped having such illusions at this point. If the calories intake exceeds the burnt ones manifold, then sure we'll have obesity problems, even if we regularly took 100 genetic medicines! Add constant stress as a trigger for many diseases, and genes are pushed somewhere into the back of the queue of factors.
And that's kind of fascinating, because it means that once more, just when we thought we had found the ultimate solution to a problem (i.e. "genes cause most diseases, hence they could also treat them"), turns out that what we thought was a peak is just another corner before the next slope up Mount Science. Reminds me of a great physicist who told a Nobel-laureate-to-be to quit physics, since everything had already been discovered in that part of science. That happened before relativity and quantum mechanics were discovered.
You should be proud of this post and the issue it has put forward.
(no subject)
Date: 26/6/13 18:45 (UTC)Not only that, but the assertion that without patenting scientific discovery all incentive for research would disappear, is manipulative and absurd.