Should Human Genes be the Subject of Patent Protection?

By Eunji C.

    The mapping of the human genome was a huge innovation that had great possibilities for early detection of diseases. For some patients and doctors, however, this has been disappointing to put it mildly. While the United States Patent and Trademark Office (USPTO) does not grant patents over the actual genes in the human body, it grants patents for the purified and isolated gene sequences and genetic tests which correlate the genetic sequences and medical conditions. This has led to a monopoly on genetic testing for certain diseases such as breast cancer.

    The Constitution grants the Congress with the power to grant patents to "promote the Progress of Science and useful Arts." U.S. Const. art. I, § 8, cl. 8. The idea of the patent system is quid pro quo. The patent owner is granted the right to exclude others from making, using, or selling the patented invention for 20 years. This right provides an incentive for inventors to invest their time and effort on new innovations and recoup the cost as well as award them for their contribution to the progress of science. In exchange, the public receives benefits from new inventions and developments. Additionally, inventors are required to provide a full disclosure of the invention, making the invention public knowledge once the period of exclusivity is over. This must be a careful balancing because too much patent protection can impede rather than promote the objective of patent protection. Lab. Corp. of Am. Holdings v. Metabolite Labs,. Inc., 548 U.S. 124, 126-127 (2006).

   In order to be granted a patent, the invention must meet the requirements set out in the Patent Act: patentable subject matter, utility, novelty, and nonobviousness. The subject matter requirement has been interpreted very broadly as “anything under the sun that is made by man.” Diamond v. Chakrabarty, 447 U.S. 303, 309 (1980). This, however, is not without limits. The Supreme Court stated that “laws of nature, physical phenomena, and abstract ideas” are not patentable. Id.  at 309. These are not inventions which were meant to be protected because they are naturally occurring phenomenon.

    The USPTO has been granting patents on purified and isolated human genes based on the idea that purified DNA should be treated as any other chemical compound. The word "isolated" has become very powerful in distinguishing a claimed gene from its naturally occurring counter parts. Currently, about 20% of human genes are patented.

    In the case Association for Molecular Pathology v. United States Patent and Trademark Office, Seven patents relating to BRCA1 and BRCA2 genes have been challenged as invalid. 702 F.Supp. 2d 181 (S.D.N.Y. 2010).  These genes correlate to increased risk of breast and ovarian cancer. Myriad Genetics Inc. owns the patents at issue and sells BRCA screening tests at about $3000 per test. Myriad stopped other companies and researchers from BRCA screening through cease and desist letters and lawsuits.

    The opponents of human gene patents argue that gene sequences are products of nature and thus are not patentable subject matter. Additionally, they argue that these patents are unconstitutional because they impede rather than promote the progress of science. Many researchers have ceased their work on the BRCA genes due to fear of a lawsuit, which impedes the development of improved genetic testing. Patent owners can block alternative tests and research that could lead to better and cheaper testing. In the worst case scenario, patent owners could prohibit others from conducting research while not even practicing the research themselves. Researchers and doctors have become infringers, subject to harsh monetary penalties. Myriad also does not permit researchers to tell the results of the tests to the patients involved, which makes them unable to meet their ethical obligations to the people in the research.

    More importantly, the gene patents are having negative impact on the patients. Many of the plaintiffs in the case are patients who could not afford the tests. The testing is not covered by a number of insurers. Also, patients are unable to get a secondary test from another lab to confirm their results before having to make difficult decisions. This violates the patient's right to bodily integrity and health and the idea that a person should be able to look at their own genome and see if there is a mutation without paying a license fee to someone else. In Ontario, Canada, where the patents are ignored, the testing costs about one third of the cost in the United States.

    There is also an increasing tendency to patent upstream inventions such as research tools instead of the products of research, as a way to make money on license agreements.

    Proponents of the gene patents argue that patent protection has been given to other innovations that are also derived from nature. Myriad argued that the patents are on the purified form of naturally occurring compounds. They argued that since the genes do not exist in nature in pure form, this satisfies the difference needed for the patent protection. Proponents of gene patents also argue that patents allow for the much needed investment. Researchers might be deterred from developing innovative tests and drugs if they can't protect the fruits of their labor. Myriad argued that substantial private investing went into their search on the BRCA genes since it takes about 5-15 years and $100 million to bring a new biologic drug to market. Myriad also pointed out that they are constantly improving the testing process and that they will do a second interpretation of the results.

    The District Court denied Myriad's argument and said patentable subject matter must be markedly different from a product of nature; there must be a transformation which leads to a distinctive name, character, or use. The court’s decision is based on the idea that there has been too much focus on the term "isolated" when the entire utility of the isolated gene lies in the fact that it is functionally indistinguishable from the natural version of the gene. This is because the purified form has the exact same information as the gene in the human body that the purified form can be used as a diagnostic tool. The court’s opinion concluded that that purification of a natural product, without more, is insufficient to transform the product into a patentable subject matter. The District Court recognized that this was a valuable scientific achievement for which Myriad deserves recognition, but said that that is not the same as being entitled to a patent. The case is now in the Court of Appeals.

    The outcome of this decision could have significant impact on the health care and biotechnology industry. One major factor is the patient's right to information and health care concerning their own body. With breast cancer being the second cause of death for women in the United States, this issue has impact over a major population. Another consideration is the biotechnology industry. Unlike the technology industry with lower development costs, biotechnology industry has huge regulatory and expense hurdles. This could make it impractical without the patent protection to recoup the cost needed. Additionally, while the decision of a District Court may not have strong value as precedent, if the Court of Appeals decides to uphold the District Court's decision, this will have an impact for all of the human gene patents. Companies that have filed their human gene patent applications, have already disclosed their innovation. If these patents become invalid, the innovation could become public knowledge without the patent applicants being rewarded for their innovation, and investments in the company would probably lose value.

    There are other possible solutions to address concerns of both sides of this question. For example, the current research exception is very narrow.  If there was an expanded exception for research, the gene patents would not impair the progress of science. Combined with a limited patent which excludes research and diagnostic tests, or a mandated compulsive licensing, patent owners could continue to benefit from the patent protection while research and personal health rights would not be affected.

    Considering the far reaching consequences of the BRCA genes decision, it is especially critical to ensure that these patents truly serve the goal of the patent system. With a creative approach, it is possible to promote innovation in the science industry while preserving the personal right to access and make informed decisions over one's own body.