On February 16, 2012, the USPTO held a public hearing on genetic diagnostic testing, pursuant to a Congressional mandate that was part of the America Invents Act. This mandate directed the USPTO to evaluate several questions related to genetic diagnostic testing, particularly with regard to second opinion or confirmatory genetic testing. USPTO will deliver its final report to Congress in June. Notes from the public hearing are available in a separate blog post.
KEI will be filing written comments on this topic which are due by March 26, 2012. Additional information regarding the scope of the report and how to submit written comments can be found at the Federal Register notice. Although KEI has not yet filed its written comments, I delivered the following statement at the public hearing:
Public Hearing on Genetic Diagnostic Testing
Thursday, February 16, 2012Statement of Knowledge Ecology International
Krista L. Cox, Staff AttorneyKnowledge Ecology International (KEI) is a non-profit, non-governmental organization that searches for better outcomes and new solutions to the management of knowledge resources, particularly in the social justice context. Among other areas, KEI has expertise in access to knowledge as well as access to medicines and medical technologies.
We have strong concerns regarding the USPTO practice of granting patents on human DNA. The patenting of DNA leads to a decrease in further scientific development and progress. Additionally, patents or exclusive rights over human DNA detrimentally affects patients who either cannot afford the monopoly price over a diagnostic test or cannot receive a second opinion on the test even when the rightholder’s test has a known error rate.
The currently litigated case, American Molecular Pathology, et. al. v. Myriad Genetics, et. al. highlights these problems. In this case, patents were filed on the BRCA1 and BRCA2 genes which are associated with an individual’s susceptibility to breast cancer. These genes were isolated and discovered at the University of Utah, using federal funding from the National Institute for Environmental Health Sciences, a subdivision of the National Institutes of Health (NIH), before being patented by the University of Utah and then exclusively licensed to Myriad Genetics. Women who have a mutation on the BRCA1 or BRCA2 genes are approximately eighty percent more likely to develop breast cancer.
Myriad Genetics developed a diagnostic test to identify mutations of the BRCA1 and BRCA2 genes and have prevented other researchers from developing their own tests and clinics from providing second opinions. The exclusive rights on these genes has allowed Myriad Genetics to price their test at a monopoly price that is often out of reach for patients and not covered by many insurance companies because of the high price. Also of great concern is that Myriad’s test was found to have a high error rate. A study published in the Journal of the National Cancer Institute reported that Myriad’s test failed to find up to twenty percent of known BRCA1 mutations. Additionally, another study found that the test had a twelve percent error rate in correctly finding the mutations it was tasked to find. The error rate is even higher for minority women than for women of Caucasian descent.
It is highly concerning that these patents over genetic material prevent patients from accessing the diagnostic tests they need and create further harm by prohibiting further development. Such results go against the constitutional rationale to “promote the Progress of Science and useful Arts,” permitting what Thomas Jefferson called the “embarrassment of an exclusive patent” only because it serves the “benefit of society.” We must remember that while the Constitution does explicitly provide for intellectual property, the Constitutional rationale also represents a limit on what can and should be protected.
The rationale for patents is to induce investments and promote future progress. However, a report done by the Department of Heath and Human Services Advisory Committee on Genetics, Health, and Society concluded that DNA patents were not necessary to provide incentives for research or development of clinical testing. Nearly two-thirds of all existing DNA patents have resulted from publicly funded research. Francis Collins noted that “the supposed need to provide an incentive for companies to develop DNA diagnostics is unconvincing. Researchers and companies do not need additional incentives to commercialize genetic knowledge.” The cost of developing a diagnostic test has been shown to be several orders of magnitude less than the cost of developing a new drug. With the majority of identification and isolation of DNA occurring as a result of federal funds and the low cost of creating a diagnostic test, monopoly rights over the DNA is unnecessary in this field.
As the Myriad case illustrates, patents on DNA do not serve the benefit of society or promote the progress of science. Instead, it removes the gene from the public domain and stifles research, innovation, improved genetic testing and development of treatment. One study on the effects of gene patents on the disease haemochromatosis found that further development on a genetic disease dropped thirty percent when a patent was granted on the gene. DNA patents are blocking patents, creating patent thickets and preventing further research thereby decreasing knowledge and information on targeted genes. Such blocking patents may harm the future of genomic testing and personalized medicines.
The highly detrimental effect patents have on diagnostic testing, future research and development, and the public health demonstrate that they are not an appropriate reward for the isolation or identification of DNA. Numerous non-patent mechanisms exist to induce and reward research and development and represent a superior alternative to the current practice of patenting DNA. Trade secrets, for example, may be used to protect investments in medical diagnostic technologies and biotechnology drugs. Although trade secrets are not without their own shortcomings, they represent an alternative.
Cash innovation inducement prizes may also be a more appropriate mechanism to stimulate investments in this area. Prizes can provide a more efficient way to promote innovation without creating the barrier of a patent. Because DNA patents represent basic information, these patents can be impossible to invent around and preempt all other uses of the DNA thereby foreclosing additional research and development. Exclusive rights therefore represent an inefficient, burdensome and inappropriate reward.
The United States currently provides for other sui generis forms of intellectual property, often where patent protection is not available. For example, exclusive rights on regulatory test data used to register new drugs or vaccines is available. Marketing exclusivity for development of drugs for “orphan diseases” and tax credits in clinical trials for these drugs may be granted. An FDA “priority review voucher” exists to reward research and development for rare tropical diseases. Such sui generis systems demonstrate that patents are not the sole means of reward and that other ways to induce research and development are often necessary.
Patenting of DNA negatively impacts the progress of science, further research and development, the availability of primary genetic diagnostic testing, and second opinions. Patents eliminate competition and give the exclusive right holder no incentive to ensure that their tests are of high quality that effectively and accurately identifies genetic mutations. They are therefore harmful to patients. It has been estimated that one of every eight women in the United States will develop invasive breast cancer during her lifetime; patents over the BRCA1 and BRCA2 genes may block many of these women from the opportunity to have testing done because of the high monopoly price which is cost-prohibitive and many insurance companies do not cover. It is extremely unfortunate that women are being denied access to critical information about their own genes and that those who can afford the testing cannot be assured of their accuracy. We therefore recommend that USPTO evaluate and look at alternate forms of rewards that may be used to reward research and development in the field of genetic diagnostic testing.