Unlocking the genome: the legal case against genetic diagnostic patents.

• Author: Russell, Tiana Leia

1. INTRODUCTION II. PATENTING PROCESSES III. PATENTS ON GENETIC DIAGNOSTIC METHODS A. Science of Genes B. The History of Gene Patents C. Association for Molecular Pathology v. USPTO D. Patents on Mixed Diagnostic-Therapeutic IV. POLICY ARGUMENTS AGAINST DIAGNOSTIC GENETIC PATENTS A. Advanced Diagnostics Patents Are Unnecessary to Motivate Innovation B. Upstream and Downstream Effects of Genetic Diagnostic Patents C. A Lower Standard of Care V. CONCLUSION I. INTRODUCTION

   We are on the leading edge of a true revolution in medicine, one that promises to transform the traditional 'one size fits all' approach into a much more powerful strategy that considers each individual as unique and as having special characteristics that should guide an approach to staying healthy. Although the scientific details to back up these broad claims are still evolving, the outline of a dramatic paradigm shift is coming into focus. (1)

   Francis S. Collins, Director of National Institutes of Health

   The growth of personalized medicine, which aims to better customize and target treatments to patients through the use of information about an individual's genes, proteins, and environment, is changing the healthcare industry and holds tremendous potential to improve patients' lives. The medical diagnostics field is a key attribute of personalized medicine, as simple tests measuring levels of proteins, genes, or mutations can be performed on patients to optimize specific therapies for that individual's condition. In many cases, this individualized treatment avoids costly, unnecessary, and potentially dangerous procedures.

   Within the medical diagnostics field, genetic diagnostic methods are rapidly changing the way diseases are diagnosed, prevented, and treated. The ability to link genetic mutations to specific diseases can lead to improved diagnostics, higher quality health care and, in some instances, life-saving treatments. Current estimates place the number of inheritable diseases stemming from mutated genes at four thousand. (2) Thus far, genetic information has been used to assist physicians in individualizing treatments for their patients in a variety of contexts. And, "most of the promise offered by the sequencing of the human genome still lies ahead." (3)

   Although personalized medicine remains in its early stages, its potential to improve patients' lives cannot be overstated. However, translating this seemingly limitless scientific revolution into tangible benefits for patients and ensuring that these discoveries are accessible on reasonable and fair terms to patients promises to be a difficult challenge. As our understanding of the linkages between genetic mutations and diseases has grown, so has a heated debate over whether patents on genes are deserving of patent protection. Currently, genetic diagnostic methods can be broadly claimed in a patent. (4) These diagnostic gene patents typically involve the process of comparing a particular portion of a patient's genetic sequence to a wild-type or mutation sequence in order to diagnose a genetic predisposition or disease. These patents oftentimes claim every single known and possible method for looking at the DNA sequence, including many of the standard processes regularly employed in the field. Over the past few decades, the U.S. Patent and Trademark Office (PTO) has granted thousands of patents on human genes, many of these directed towards diagnostic methods. Presently, patents are held on diagnostic tests tied to a wide array of diseases including prostate cancer, (5) HIV/AIDS, (6) breast cancer, (7) ovarian cancer, (8) and vitamin B deficiencies. (9) Half of the genes known to be connected to cancer are already patented, and one company alone holds patents on approximately ten percent of the human genome. Whether such advanced diagnostic methods should be afforded patent protection is of increasing significance as our understanding of the makeup of the human genome grows.

   The wisdom of patenting genetic diagnostic methods, particularly whether or not such patents promote or prevent medical and scientific advancements, is a hotly debated issue. Supporters of such patents argue that they are deserving of patent protection because they accelerate scientific discoveries and improve medical care by incentivizing investment into research. Critics of patents held on diagnostic methods argue that many of these patents actually fall within the judicial exceptions to patentable subject matter because they claim such patents are laws of nature, natural phenomena, or abstract ideas. They advance numerous policy arguments against them as well, namely that they are unnecessary to motivate innovation and commercialization, that they have a chilling effect on medical and scientific research, and that they result in a lower standard of medical care. Because patents provide the ability to extract monopoly rent, in cases where those rents are beyond what is necessary to encourage innovation, overbroad patent protection comes with very real costs both to consumers and innovation.

   This paper examines whether genetic diagnostic patents constitute patentable subject matter under 35 U.S.C. [section] 101. Part II examines the jurisprudence surrounding the boundaries of patentable subject matter. Part III presents a brief background on the science of genetics and the history of gene patents. Part III also traces the litigation in Association for Molecular Pathology v. United States Patent and Trademark Office, and concludes by arguing that diagnostic genetic patents, as well as other advanced diagnostic method patents, constitute non-patentable subject matter under 35 U.S.C. [section] 101. Part IV presents several policy arguments against granting patents on diagnostic methods.

2. PATENTING PROCESSES

   The courts have struggled in determining the proper boundaries for patentable subject matter, particularly when applied to process patents. The Constitution grants Congress broad power to legislate to "promote the [p]rogress of [s]cience and useful [a]rts, by securing for limited [t]imes to [a]uthors and [i]nventors the exclusive [r]ight to their respective [w]ritings and [d]iscoveries." (10) Patents promote scientific progress by offering inventors a monopoly for a limited period of time in order to incentivize innovation. (11) Patents can be obtained for several types of inventions, including a process, machine, manufacture, or composition of matter. (12) Patent-holders have the absolute right to exclude others from making, using, or selling their invention for twenty years after the application for the patent is filed. (13) Properly employed, patents incentivize innovation, promote the disclosure of information, and offer protection for commercialization. However, patent law necessitates a careful balancing between promoting innovation while not stifling scientific research and development. In some cases, "too much patent protection can impede rather than 'promote the Progress of Science and useful Arts,' the constitutional objective of patent and copyright protection." (14)

   Thus, in order to receive the Patent Act's protection, a claimed invention must be novel, (15) nonobvious, (16) and fully and particularly described. (17) However, before a court may even turn to these requirements, it must first determine the threshold issue of whether the invention for which patent protection is sought is patentable subject matter under 35 U.S.C. [section] 101. (18) While patent protection may be applied to "anything under the sun that is made by man," (19) this expansive reading is not without its limits. The Supreme Court has recognized three categories of subject matter that fall outside of [section] 101 and are not patentable: the laws of nature, physical phenomena, and abstract ideas. (20) In explaining the reasoning behind these exceptions, the Supreme Court has noted as follows:

   [A] new mineral discovered in the earth or a new plant found in the wild is not patentable subject matter. Likewise, Einstein could not patent his celebrated law that E=mc2; nor could Newton have patented the law of gravity. Such discoveries are "manifestations of ... nature, free to all men and reserved exclusively to none." (21) The rule that the discovery of a law of nature is unpatentable rests on the understanding that they are not the type of discovery that the patent laws were enacted to protect. (22) These fundamental principles "even when for the first time discovered, have existed throughout time, define the relationship of man to his environment, and, as a consequence, ought not to be the subject of exclusive rights to any one person." (23) They "are part of the storehouse of knowledge of all men ... free to all men and reserved exclusively to none." (24) As Justice Breyer eloquently observed the reasoning behind these exceptions:

   The justification for the principle does not lie in any claim that 'laws of nature' are obvious, or that their discovery is easy, or that they are not useful. To the contrary, research into such matters may be costly and time consuming; monetary incentives may matter; and the fruits of those incentives and that research may prove of great benefit to the human race. Rather, the reason for this exclusion is that sometimes too much patent protection can impede rather than 'promote the Progress of Science and useful Arts,' the constitutional objective of patent and copyright protection. (25) Unfortunately, the fundamental principles exception can be a difficult standard to apply particularly when assessing the patentability of process claims. A process claim involves any series of steps "to produce a given result." (26) The prohibition against patenting fundamental principles does not necessitate that all processes which incorporate fundamental principles necessarily fall outside the scope of patent protection. (27) The application of a law of nature in a new and useful way may very well be...