Human Genes: Patents Paid for with Patients

The growing gene patenting industry is costing the world its well-being.

A small, pink-eared mouse runs on her wheel at the Jackson Laboratory in Bar Harbour, USA. That mouse, or more specifically, the genes she carries, almost cost the nationally-funded research laboratory millions until the Alzheimer’s Institute of America (AIA) dropped its lawsuit against them in August of last year. The institute holds the patent on human DNA sequences used in the mice. The AIA gracefully allows academic research on its patented human genes, but the institute had originally accused Jackson Laboratory of selling the DNA for commercial purposes.

The issue of gene patents sparked many international debates in the health sciences last year as the world waited for an American court’s ruling on the patents of the BRCA1 and BRCA2 human genes. Mutations in those two genes are linked to a predisposition to breast and ovarian cancer. Myriad Genetics holds the patents on those genes and on the only test that can screen for mutations in them. In July of 2011, a U.S. federal appeals court reaffirmed the right of researchers and their supporting organizations to patent human genes in isolation from the body.

The decision has wide-reaching implications. With a few exceptions, the 173 member states of the Paris Convention for the Protection of Industrial Property will honor patents filed within the other members’ borders as long as those patents are also filled domestically within a certain time frame. In addition to the U.S. Patent Office, Myriad Genetics holds its patents for BRCA1 and BRCA2 with the European Patent Office and the Australia Patent Office among others.

Gene patenting has a thirty-year history dating back to a patent brought before the U.S. Supreme Court in 1980 for a genetically modified bacteria that could help clean up oil spills. Patent offices around the world have been issuing patents for genes—even human ones—ever since with little challenge. At present, over 20 percent of human genes have been patented by various research groups.

Many have argued that patenting something that exists in nature and, in particular, something that exists in humans is unethical. They claim that no one should own the rights to what exists inside everyone. Patent offices respond that discoveries as well as inventions can be patented as long the patent application meets all the normal requirements. They insist genes in isolation when extracted from a sample are patentable, but the patents do not apply to a gene’s state in nature.

It was with exactly that kind of analysis into the guidelines of the U.S. Patent Office that the judges in the U.S. Court of Appeals ruled when they reviewed the Myriad Genetics case last year.

Myriad Genetics’ patents include two genes linked to cancer and the tests used to screen for them. When the genes in question mutate within a woman, she has “as much as an 85 percent chance of developing breast cancer and a 50 percent chance of developing ovarian cancer” the AARP reported in a friend-of-the-court brief. Screened early and using preventative treatments, however, women with the genetic mutation can reduce the risk of developing life-threatening cancer.

With its patents in place, Myriad and the companies it licenses were the sole providers of the screening tests. When the patents for BRCA1 and BRCA2 were first introduced in Europe in 2001, Myriad insisted that all samples be sent to its laboratories in the U.S. for the patented tests to be carried out. Myriad currently charges over $3,400 for the test when, according to the New York Times, the actual procedures could be carried out for as little as $1,000.

In 2010, the American Civil Liberties Union filed a lawsuit against Myriad to have the patents revoked. A judge ruled that the patents were invalid. The reason he gave was that DNA isolated from the body was not different from naturally occurring DNA, and so it was not patentable. When the case then came before the appeals court in 2011, the judges instead sided two-to-one that the patents should be upheld. The dissenting judge agreed with the ruling of the judge a year earlier.

The two judges that voted to maintain the patents argued simply that the molecules of the isolated DNA are “markedly different” when in isolation and therefore are a legitimate discovery. One of the two, Judge Kimberly A. Moore, admitted that only the U.S. Congress should change the U.S. Patent Office policy, and so she could only rule on whether or not it was acceptable to patent human genes following the guidelines set out by the patent office. Instead of evaluating the implications of allowing gene patenting to continue, the judges’ rulings in all cases were based on the wording of the guidelines set out by the patent office as to whether or not isolated human DNA was considered a suitable enough discovery to be patented.

During the 2011 appeal, the judges did rule against Myriad’s patent on the screening process used to test for mutations in the two genes. The argument they gave, however, was that the test involved “patent-ineligible abstract mental steps.” If the test had involved a more technical procedure, the patent on the test for the mutation would have been upheld as well.

During the appeal proceeding, the Obama administration offered an unsolicited friend-of-the-court brief attempting to sway the judges to reject the patents. The brief argued that “genomic DNA that has merely been isolated from the human body without further alteration or manipulation is not patent-eligible.” It did not discuss the broader issue of whether or not something as essential to research as human genes should be patented. The debate about the patent process’ suitability for something so critical to the health sciences was set aside by the judges and all those involved.

 

The patenting of genes is at the core of a multibillion-dollar industry, and, even more importantly, it is central to today’s biomedical advancements. The decision of whether or not to allow genes to be patented shouldn’t be made simply on the established wording in the guidelines of a patent office. The U.S. Patent Office admits that in offering patents for genes, it only needs to ensure that typical patentability requirements are met. It passes the responsibility of making a special exception for genes onto the U.S. Congress, which has yet to intervene. In the debate to allow gene patents, however, lawmakers should not look to the guidelines of patent offices but to the implications of their decisions.

The debate of whether or not gene patenting is beneficial to advances in the health sciences is a complicated one. Patents typically promote innovation, but genes may be a special case.

Some people have argued that the decision to allow patents on genes has created a form of ‘anticommons’ effect in which the scientific community avoids undertaking research on already discovered genes that would require drawn-out and expensive patent negotiations. This does not appear to be wholly true, however, as “surveys of scientists in academia and industry have not shown a powerful anticommons effect or blocking effect in research” as a result of gene patents, as reported by The Hastings Center.

In a U.S. court case in 2002, it was stated that even academic institutions performing nonprofit research in the United States could be held liable for breaching gene patents. In actuality, very few patent holders have sued institutions carrying out purely academic research, but it is still disconcerting that the threat of being sued looms over scientists. This causes many researches to seek out permission before working with patented genes, but a study carried out in 2005 for the National Academy of Sciences reported that only one percent of the scientists surveyed suffered a delay in their project of more than one month due to patents. In general, nonprofit laboratories are encouraged by patent holders to study their discoveries because further innovations will often add to a gene’s profitability.

The U.S. Patent Office argues that the patent system also promotes progress “by securing a complete disclosure of an invention to the public,” and this “provides new opportunities for further development.” As a discovery, however, the information being disclosed to the public is the patented gene itself, and there is no substitution for a given gene. A researcher cannot compete by patenting a different discovery that accomplishes the same thing as a gene, and there is no way to build on the discovery of a gene without first getting permission of the patent holder. In the case of Myriad patents, for instance, there is no alternative to the BRCA1 and BRCA2 genes when researching that cause of cancer.

While the published details of gene patents may aid researchers in patenting other genes, DNA—by its very nature—is the key building block in what it relates to. Further innovations into a specific gene can only be accomplished by research that a patent holding company has the right to restrict.

Patenting, however, certainly encourages competition to discover new genes. Whoever patents a gene first stands to profit from that discovery, recoup its costs, and in turn, fund research to patent more genes. This benefit cannot be ignored. But once a gene has been patented, private competition to do research on it dwindles out because only one company stands to profit. Only the patent holders and nonprofit organizations that operate with their permission are encouraged to continue research into a gene after it has been patented. Future breakthroughs are delayed by a lack of private competition to continue studying discovered genes. As discovered genes make up the very foundation of genetic medical research, it seems the current patent system is not the best fit to encourage innovation.

In addition to stifling advancements into patented genes, the current patent system also imposes limitations on gene diagnostics that more immediately threaten human health. A group of doctors and scientists issued a statement in protest of gene patenting in 1999 saying, “The use of patents or exorbitant licensing fees to prevent physicians and clinical laboratories from performing genetic tests limits access to medical care”. Gene patenting companies need to cover their costs, but they typically charge two-to-three times more for gene testing than it would cost another laboratory. This expense hinders even publically-funded research that sometimes needs to screen thousands of samples.

Excessive costs for gene testing also limit the public’s access to the tests. As reported in The New York Times, the 1993 patenting of the gene that causes Canavan disease is a perfect example. Canavan disease is a hereditary condition that could not previously be screened for. All over the world, families donated tissue samples and funds so the gene that causes the disorder could be discovered. When the gene was singled out in 1993, the test to screen for it was so cheap that a hospital in New York offered it for free to the public so couples could find out if their future children would be at risk. The institute responsible for the innovation, however, patented the gene and refused to allow any hospital to perform the test without paying a $195 royalty. Certainly, the company needed to recoup its costs, but though the research was in part publicly funded, there was no public oversight into the decision to demand a royalty for performing the patented test.

In 2001, When Myriad first introduced to Europe its patent on the tests to screen for the genes BRCA1 and BRCA2, the U.S. patent date was honored, and French scientists performing a later-patented screening test on the same genes were issued a cease and desist order. They were encouraged instead to pay to submit their samples to be tested in Myriad’s laboratories in the United States. In a report published in the Journal of Medical Genetics, the lead French geneticist argued that the screening process they had been using was in fact more effective than Myriad’s at the time, which missed 10 to 20 percent of expected mutations. Even though the two screening processes were different, Myriad’s patents covered all methods of testing for mutations in its genes. Until Myriad could later update its methods, general public health suffered because the French team’s diagnostic method could not be used. Thanks to its superseding patents, however, Myriad paid no royalties to benefit from the advances the French team had made researching the genes.

Seeing the gene patenting situation as a threat to public health, the French government quickly intervened. They began to fund screening for breast cancer at the national level and passed legislation that clearly exempted both research and diagnostics of patented genes from infringement liability. This meant that French scientists could freely compete with Myriad to offer their own screening tests for patients. Further, the French government created a law to force owners to license out their patents if their refusal to do so would threaten public health.

The French government’s reaction to the situation was not unique. Belgium and Switzerland now have similar legislation that makes gene discoveries a unique case in their patent laws. They designed their policies so that public healthcare would be held to a higher priority than the rights-based system of the Patent Office. These countries did not eliminate gene patents all together, recognizing that the motivation to innovate that is central to the patent system is useful in the discovery of new genes, but they specified that gene patents should not restrict medical advancements and treatments that are central to human health.

Deciding whether or not genes are patent-eligible does not need to be an all-or-nothing decision as the U.S. judges were debating last year. The staggering number of genes that have already been discovered shows that the current patent system has positive applications to the health sciences. The genetics industry grew thanks to the security that patents offer companies investing in expensive gene research. This industry has weaknesses, however; it has grown in some cases at the expense of public health. If the centuries-old patent system is not be the best fit for genetic research, can the gene industry actually be considered a success? Are the discoveries truly advancing human well-being or just profiting private investors? If issues of public health are held to be of the upmost priority, genes should be a special case in patent laws to ensure the best possible gains for the health sciences and for healthcare in general.

Advertisements