Human genes can’t be patented. So said the Supreme Court in their June 13 decision in Association for Molecular Pathology v. Myriad Genetics, Inc. I heard the news that morning on NPR and cheered aloud, even though I was alone. Then I paused. Myriad Genetics had patents on the genes BRCA1 and BRCA2, which are associated with breast and ovarian cancer. The value of these genes, for now at least, rests mostly in the information they contain (that is, they are not drug targets). People with a strong family history of breast or ovarian cancer can have samples of their own DNA tested by Myriad to determine if they have inherited particular mutations in these genes that put them at risk for developing cancer themselves. The stakes of this testing are high: many people who test positive for cancer-causing BRCA mutations opt for radical surgical procedures like double mastectomies and ovariectomies. Yet Myriad’s tests are quite expensive and, until the Supreme Court decision, only Myriad could legally run them – no shopping around, no second opinions.
Myriad Genetics (along with various partners, including, notably, publicly-funded scientists at the University of Utah, the University of Pennsylvania and the National Institute of Environmental Health Sciences) cloned, sequenced, and identified key mutations in BRCA1 and BRCA2 in the 1990s. The research was costly (though again, it is important to note that some of that cost was born by the American taxpayer), so Myriad wanted to patent the BRCA genes in order to profit from their discoveries. Without patent protection, anyone could have come along and provided low-cost BRCA testing. That’s because the techniques involved in BRCA testing are not actually that complicated. The valuable discoveries that Myriad and its collaborators made didn’t have to do with developing the testing process (i.e. gene sequencing), but with telling testers where and what to test for. Once those things were known, anyone could run a test, or rather, anyone could have run a test had Myriad not been granted gene patents.
Depending on your perspective, competition in the BRCA testing market could have been good or bad. Low-cost testing would have been better for patients and insurance companies. But if competition had been allowed, would Myriad have even bothered with the investments necessary to develop the test in the first place? Probably not. Why put in all that money and effort and risk of failure when you won’t be able to reap the profits? Why not wait around and see if some other sucker will try it? In the absence of patent guarantees, the private sector will not make risky investments in nascent biotechnologies. That’s not to say no test would ever have come along. There were probably some selfless science heroes out there who would have done it without a profit motive (Jonas Salk, inventor of the polio vaccine, famously refused to patent his invention, lest that limit its availability), but it would have taken longer. It also would likely have required government funding of the Salk-esque scientists who would be willing to do it.
For a stark illustration of public vs. private approaches to science, look no further than the Human Genome Project. The public Human Genome Project, which officially began in 1990 and was led primarily by the current director of the NIH Francis Collins, was plugging along slowly but surely on sequencing a human genome, dumping its sequences into a giant open-access database called GenBank as it went, every 24 hours. Then, in 1998, along came Celera, Craig Venter’s company, which was using “shotgun sequencing” techniques to piece together genetic information much more rapidly and cheaply than the government project had been doing. Celera’s work on the Human Genome Project accelerated its progress substantially. The final Human Genome Project came in several years ahead of time and under budget. But Celera also changed the nature of the project by delaying the release of its data (it agreed to release data yearly instead of daily), refusing to release data into the government’s open-access database, and seeking to patent the genes it had sequenced first, sometimes without knowing anything about what they did (in total, it filed 6500 preliminary “placeholder” gene patents).
In summary, Celera was good for genomics in that it accelerated progress toward a specific goal, but bad for science in that it impeded the efforts of others to make use of and build on Celera’s achievements. So, the question for us, as citizens, taxpayers, consumers and patients, is this: do you want specific projects done fast and cheap? Or do you want to pay, with your tax dollars, for open academic exchanges of information that will drive further innovation? Do you want the private sector to pay for research to develop new genetic tests and pharmaceuticals, in exchange for which we will grant them temporary monopolies? Or do you want to pay, with your tax dollars, for the research, which will permit the immediate availability of generics from a variety of competing companies?
Perhaps there is a middle ground between these two extremes. For one thing, it is unrealistic to think that all science could be government funded. It’s too expensive and a complete lack of competition would lead to profound inefficiencies. On the other hand, gene patents are too broad and cause too much restriction (thus my happiness and relief on hearing they are gone). A gene is not so much a material thing as it is information, and granting one entity the exclusive legal right to make use of information restricts intellectual freedom and scientific progress. What might make sense is to issue patents only for specific applications. We do currently allow patents on ideas in the form of “inhibit protein X to treat disease Y.” We can do the same for genes, allowing companies to pursue gene therapies under patent protection without allowing them to own the actual genes they’re seeking to manipulate.
Another idea percolating in the background is to offer monetary rewards for specific discoveries. If the rewards offered are sufficient, such a system could provide incentives for individuals or companies to pursue worthy goals independently of offering them patent protection. The XPrize Foundation has incentivized some amazing inventions, including the design of commercially viable passenger space shuttles. A new prize, the Archon Genomics XPrize, is offering $10 million for the complete, accurate whole-genome sequencing of 100 centenarians. The XPrize model is interesting, but there are still issues simmering in the background over the issue of who will retain intellectual property rights on the inventions made by XPrize competitors and how that will affect participation in the competitions. Another issue is the prize money. $10 million is a lot, but probably not enough to cover the costs of the eventual winner of the prize, so the XPrize as it is can’t replace patent rights as the sole incentive to achieve this feat.
As we consider pragmatically what can be done to reform biological patent law, it is impossible to ignore the fact that we are talking about biology, the study of life. The question of whether human genes, or living organisms, or any parts of living organisms are patentable is not just a pragmatic question, but also an ethical one. The Myriad case notwithstanding, we are trending more and more towards granting patents on life. There are patents on genetically engineered viruses, bacteria, plants, animals, and even human stem cells. It sounds very creepy, but I still can’t help questioning whether some of those patents really are justified in the name of promoting innovation. As scientists develop more and more ways to use biomolecules as machines (e.g. to make computers), we are blurring the lines between invention and discovery, between innovation and information, between synthetic and natural. As a result, we are going to need to think long and hard about how to handle biological patents in the future. Preferably, we would do this as a society, through open debate and clear legislation, rather than waiting for the courts to do it for us.