The idea of patenting a gene seems strange, and it's a practice that's made weirder by virtue of the fact that the genes of living humans can also be patented. How is this possible? And what are the potential pitfalls? Here's what you need to know about the current state of human gene patents — and why the current laws need to be reconsidered.
Patents are typically granted for something that's tangible, like a mechanical device. It's done to protect inventors and companies from being ripped-off by their competitors; they're the ones who put the time and work into developing the technology, so they should be protected from those looking to copy their ideas. It's a process that works, and it makes sense.
Recently, the system has been expanded to keep pace with developments in technology, including advances that have been brought about by the biotech revolution. Subsequently, patents have been granted for less tangible things — including "inventions" that are connected to fragments of genetic code.
Specifically, a gene patent can be granted for a claim on a nucleic acid, or for a method of diagnosing a genetic condition. Claims can be made over a DNA or RNA sequence, or a method of identifying the existence of a DNA or RNA sequence in an individual. This can include both coding and non-coding DNA. So, for example, a patent can be taken out on the gene sequence responsible for a predisposition to Alzheimer's.
Product and process claims tend to fall within four broad categories, namely isolated DNA or RNA molecules, diagnostic kit tests, methods of diagnosis through genetic testing, and gene chips and microarrays. Consequently, by patenting human genes that can be associated with these potential products, companies stand to make a lot of money — hence the intense demand for human gene patent claims.
And indeed, once the practice of gene sequencing began in the late 1990s, there was a mad rush to patent human genes. As far back as 2005, a study showed that over 4,000 genes — about 10-20% of the human genome — were claimed in some way by U.S. patents (it's worth noting that a more recent study has taken exception to this claim). A similar number of patent claims appeared in both Canada and Europe. The wild west era of human gene patenting had begun.
The flurry of human gene patenting sparked a furious debate in legal, political, health, and philosophical circles. Since the practice began, a flurry of questions have been raised in regards to the sensibility of human gene patenting, and whether or not it's in the public's best interest.
A common argument was that the human genome — and all its inner workings — was part of the commons, and that no one should be able to own or patent it.
But of all the issues, the one that clearly stood out was the logic behind declaring a gene patent as an invention or a discovery — which to this very day qualifies it for patentability. According to the key statutory provision (Section 101 of Title 35) of the U.S. Code:
Whoever invents or discovers any new and useful process, machine, manufacture, or composition of matter, or any new and useful improvement thereof, may obtain a patent therefore, subject to the conditions and requirements of this title.
This complex and open-ended wording is what has allowed companies to patent human genes — a practice that came under scrutiny in an important case that began back in 2009.
Several years ago, a U.S. company called Myriad Genetics was granted a patent for two human genes: BRCA1 and BRCA2. Both of these genes are linked to an increased risk of breast and ovarian cancer — which would be of great interest to women wanting to know if their DNA carried this mutation.
Not surprisingly, Myriad Genetics was criticized for charging costly fees for its diagnostic services. Many people condemned the practice, arguing that women have the right to look at their own DNA without having to pay a license fee.
Even the ACLU chimed in, saying that the patents stifled diagnostic testing and research that could lead to cures, and that it limited women's options regarding their medical care. The ACLU also declared patents on these two human genes as being unconstitutional and invalid.
The case went to court. In 2010, a federal judge overturned Myriad's patents, arguing that genes are a "product of nature," and that they should not be patentable. The U.S. Justice Department noted that, "genomic DNA that has merely been isolated from the human body, without further alteration or manipulation, is not patent-eligible" and added that "the unique chain of chemical base pairs that induces a human cell to express a BRCA protein is not a "human-made invention."
However, the case went to appeal — and Myriad won its patents back. A three-judge panel decided that "isolated DNA" was somehow different than "naturally occurring" DNA — and that this distinction could allow fragments of human genes to be patented.
This decision prompted geneticist S.L. Salzberg to write a scathing commentary in Nature in which he pointed out what he saw as an absurdity: "By this argument, a blood sample or even an amputated limb is not 'naturally occurring' and is therefore patentable." Genes, said Salzberg, are not inventions. "This simple fact, which no serious scientist would dispute, should be enough to rule them out as the subject of patents," he wrote.
But by virtue of their decision, the judges had declared human DNA fragments to be something new, and hence, an invention.
To get a better sense of the nuances behind the court's decision, and the ensuing opposition to it, I spoke to attorney Russell Blackford. As we learned from him, it's not as black-and-white as many proponents and opponents of the practice make it out to appear.
"From my viewpoint, many of these patents seem like legal contrivances to get around the fact that we're not supposed to be able to patent things that are the products of nature, rather than the products of human invention," he told io9. That contrivance, says Blackford, may not be a bad thing in every case that we could imagine.
"Think, for example, of a new drug that is essentially the refinement of a naturally occurring substance, such as a chemical found in a particular variety of plant," he says. "It's a product of nature, but it might nonetheless be expensive and difficult to identify it and then demonstrate its medical value. The process of clinical trials alone can involve much expense and effort. Perhaps in a case like this we'd think that a patent is deserved, even though a certain amount of contrivance might be needed to bring it within the law."
And indeed, Myriad was able to patent isolated and purified DNA segments, which they claimed were different from naturally-occurring DNA because of their increased amenability for use in medical tests.
Consequently, Russell argues, these so-called "contrived" patents might not always be a bad thing. And in fact, he says that there could be cases where it's in the public's interest that they be granted.
At the same time — and for better or worse — gene patenting is a driver of big business. Advocates of the practice include biotech firms, Big Pharma, patent attorneys, and university intellectual property offices — virtually all of whom have strong financial interest in upholding the present system. More philosophically, some libertarians and freedom of speech advocates also support the current system who, along with the groups aforementioned, tend to oppose any limits on human gene patents.
But while recognizing the practical efficacy of contrived patents, Russell is not completely convinced that it makes sense.
‘"I question whether patents on short segments of human DNA can be justified along those lines," he says. "It's even possible that research into new therapies will be hindered if we end up with many different companies holding rights to different parts of the human genome."
Indeed, Russell is not the only one who has expressed this concern.
One vocal opponent to human gene patenting is Fiona Murray, who argues that gene patents are detrimental to scientific research. Her evidence has shown that basic research is being hindered by the existence of patents on genes.
Similarly, S.L. Salzberg contends that gene patents are antithetical to scientific progress. Specifically, he worries that patent holders hide their work, keeping their "invention" out of the hands of competitors until their claims can be more properly protected. This, he says, goes against scientific principles and the open dissemination and disclosure of important health information.
He also argues that human gene patenting discourages further work on genes. Given that there are well over 4,000 gene patents and 1,100 different claimants, it's extremely onerous for scientists to work on certain genes. It forces them to have to navigate through a costly and bureaucratic process of negotiating licenses and paying for these licenses. Consequently, says Salzberg, many would rather spend their time and resources working on other genes — including less important ones. Salzberg calls it an "indirect threat to human health."
David Koepsell, author of Who Owns You: The Corporate Gold Rush to Patent Your Genes, contends that it is inefficient to grant what he calls "government-sponsored monopolies," and that biotech companies and other corporations need to be made to compete with the actual values of their products. "Even setting this radical argument aside," he writes, "gene patents are not the most economically efficient way to exploit publicly-funded science, nor necessary to spur useful innovation in drugs."
Stephan Kinsella has made a similar case, arguing that patents do not encourage innovation.
Biotech pioneer Craig Venter agrees, saying that he generally opposes gene patents (except in certain cases) noting that, "There were a couple of gene patents that were worth a lot of money, so all of a sudden every university and every biotech company spent a fortune on patenting genes. I think only the patent lawyers got rich."
Interestingly, there's also the issue of enforceability — or lack thereof. A recently study in the U.K. revealed that there was little to no impact on the practice of developing genetic tests in the public sector in that country — and it was because the gene patents were essentially ignored.
Unfortunately, ignoring the problem will not solve these issues or make it any more sensible. Current patent laws are clearly insufficient and need to be reconsidered. That's not to suggest that innovations in genetics cannot be patented, and that companies shouldn't be rewarded for their efforts. What needs to be put into place is something more logical and sensible — a patent policy that works to defend the rights of biotech innovators, but not at the expense of scientific inquiry and the public interest.
Update: As some readers have pointed out, there was a recent court ruling that could have important implications to the Myriad case. Earlier this year, Prometheus Laboratories was told that they cannot patent a medical test that relies on correlations between drug dosages and treatment — a decision that could challenge the patentability of human genes. Writing in News and Insight, Alison Frankel explains:
The plaintiffs in both cases have relied on the same argument: that the patents in dispute are naturally occurring phenomena that do not qualify for patent protection. The Supreme Court bought that argument wholeheartedly in Mayo's case.
"We conclude that the patent claims at issue here effectively claim the underlying laws of nature themselves. Those claims are consequently invalid," wrote Justice Stephen Breyer. Just as Einstein could not have patented E=mc2 and Newton could not have laid claim to the law of gravity, Breyer wrote, so Prometheus cannot patent a test kit that correlates a patient's blood chemistry with the best drug dosages for treatment. The decision overturned a ruling by the U.S. Court of Appeals for the Federal Circuit upholding Prometheus's patents.
"We were really pleased with the Prometheus decision," said Sandra Park, an ACLU attorney fighting on behalf of a host of researchers and breast cancer patients to invalidate Myriad Genetics' right to patent isolated breast cancer genes. "The decision bodes well for the ultimate outcome of the Myriad case," she said.
Top image by zentilia, via Shutterstock. Inset images via Shutterstock.com/Nikita G. Sidorov.