The Supreme Court in early December agreed to hear a case challenging Myriad Genetics’ (Salt Lake City) patent of two genes linked to hereditary breast and ovarian cancer. In agreeing to hear the case, the court limited the appeal to a single question—are human genes patentable? Despite the attention the case has garnered over the past three years, there are questions over how great of an impact the decision will have on the diagnostics industry. The question of patentability of genes stirs great passion. Some, like the American Civil Liberties Union in this case, say gene patents interfere with scientific progress by slowing research, increasing clinical and research costs, and impeding access to diagnostic tests. Meanwhile, the biotech industry argues exclusive patent rights are imperative to the in vitro diagnostics industry’s success by allowing companies to recoup initial research and development costs. In 2001 the U.S. Patent and Trademark Office established utility guidelines that allowed patenting of a “genetic composition isolated from its natural state” as long as the patent applicant “discloses a specific, substantial, and credible utility for the claimed isolated and purified gene.” But as molecular diagnostics has evolved, technologies like next-generation sequencing may be making isolated gene patents irrelevant. “In my mind diagnostics [methods] patents are always more important and restrictive than patents on isolated DNA,” says Daniel Vorhaus, a lawyer at Robinson Bradshaw in Chapel Hill, N.C., and editor of the online Genomics Law Report
. “A gene sequence by itself is not that valuable; it’s the informational content in the diagnostics method patents [that’s significant].”
“Companies can work around the types of patents going to the Supreme Court.” —Daniel Vorhaus
Legal experts say that the claims of Myriad’s CEO Peter Meldrum that “this case has great importance for the hundreds of millions of patients whose lives are saved and enhanced by the life science industry’s products” may be hyperbole. Myriad is a unique business and legal case, as few diagnostics companies have built successful monopolies around isolated DNA patents. “Companies can work around the types of patents going to the Supreme Court,” Vorhaus tells DTTR
. “Plus, there is the significant cost and consequences of asserting gene patents, as Myriad has seen. I wouldn’t expect to see follow-on litigation. . . . The case has driven significant policy discussion, but I don’t buy into the rhetoric that it will be broadly detrimental to the biotech industry.” Proprietary Data Outlives Patents
Myriad may not even be too affected by the court’s ultimate decision, say experts. With its BRCA-related patents expiring over the next five years the company will rely upon the added insulation it has built around its testing monopoly in the form of its proprietary database of DNA sequence variants (including variants of uncertain significance [VUS]) and associated clinical information relating to the breast cancer genes BRCA1 and BRCA2. “Myriad clearly sees its proprietary database as a source of competitive advantage, one that will persist after its underlying patents expire or are invalidated in court,” writes lead author Robert Cook-Deegan, M.D., from Duke University in Durham, N.C., in a case study published online Nov. 14 in the European Journal of Human Genetics
. Myriad deliberately retains the data as a trade secret, he argues, while the majority of clinical testing services do provide their data to public databases. “In an environment in which new technologies, including whole-genome and whole-exome sequencing, are already beginning to change clinical practices in genetic testing, a proprietary database gives Myriad indefinite exclusivity independent of patent protection,” writes Cook-Deegan. “Until the data and interpretive algorithms are re-created in publicly accessible form, competing services will be able to manage VUS results in only two ways: by having samples analyzed at Myriad . . . or by rendering inadequate interpretations based upon incomplete public data and algorithms. . . . Current practice permits the privatization of valuable clinical data obtained from patients.” Cook-Deegan and colleagues call for payers, regulators, and providers to enact policies to bring such clinical data into publicly available resources. A similar call was issued in November by the American College of Medical Genetics and Genomics (ACMG) in its position statement Public Disclosure of Clinically Relevant Genome Variants
. “The next phase of the human genome project, which is to annotate the human genome sequence with the clinical and biological meaning of the sequences and variants, will require capturing information from a very large number of people from diverse populations,” said ACMG’s executive director Michael S. Watson, Ph.D., in a statement. “Information that informs us about the meaning of genome sequences should be in the public domain where it can be used for the benefit of all.” As the industry awaits the Supreme Court’s decision, there is growing consensus that proprietary genetic data, protected by patents or not, is what poses the greatest challenge to advancing genomic medicine.