Unlocking the Genome: The Legal Case Against Genetic Diagnostic Patents

I. 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. …