This past Thursday marked the 60th anniversary of the publication of Francis Crick and James Watson’s discovery of the double-helical structure of DNA. Looking back, though the initial scientific implications of their finding may have been evident, it is unlikely that the two men could ever have foreseen the extent to which the knowledge generated by their work would one day provoke scientific controversy and ethical and legal debate—debate that would even make its way all the way to the Supreme Court.
I refer to the case Association for Molecular Pathology v. Myriad Genetics, Inc., for which the Supreme Court heard oral arguments on April 15th. It is the most high-profile genetics case in history, and it concerns the ability of private corporations to patent human genes. For the past 20 years, the molecular diagnostic company Myriad Genetics has held the patents for BRCA1 and BRCA2, the two genes that are highly associated with hereditary breast cancer, and as such the company has held a monopoly over the diagnostic test that allows women to determine whether or not they are at increased risk for the disease. Of course, this “diagnostic test” is simply the process of sequencing these two genes and reading the code to determine if a patient has one of the disease variants, a general practice that is common in diagnostics and research around the country. Yet Myriad holds the exclusive rights to sequencing the coding regions of BRCA1 and BRCA2—and as a consequence owns and controls the knowledge of which letters are important and relevant in that code.
These patents, granted in 1998 after Myriad was the first in a race to identify and isolate the BRCA genes, have since frustrated scientists, doctors, and breast cancer patients alike for a variety of reasons. Patients suffer a $3000 price tag on a test that experts have estimated to cost only $200, and lament their inability to get a second opinion. Doctors resent the fact that they are unable to administer the test to poorer patients or those whose insurance does not cover it. And of primary concern to researchers is the fact that the patent puts obvious restrictions on the ability of the research community to advance public understanding of the genes and their mutations. Dr. Eric Topol, director of the Scripps Translational Science Institute at La Jolla, echoed this when he told the L.A. Times that Myriad’s monopoly over the genes has “really held back the field”—especially as the company issues cease-and-desist warnings to those who try to study the genes.
The Supreme Court must now decide if this patent is valid—generally, if the act of isolating a gene constitutes a patentable invention. According to patent law, a patent cannot be obtained for something that is a product of nature, such as a mineral, the sun, a species of tree, etc. While the plaintiffs argued that Myriad’s patent of the BRCA genes is invalid under this law, Myriad’s lawyers insisted that they have the right to a patent on the “synthetic molecules based on the genes”—namely, the cDNA—that allows them to run the genetic testing. Considering the complexities of the legal questions surrounding the issue, it remains to be seen how the Supreme Court will rule, but in the meantime, there is something relevant to recognize about this situation.
While the ruling will hold serious ramifications for future patent-eligibility determinations, its true impact will come from reaction to the case—both from the public and from policymakers. It may be time for Congress to reconsider the way DNA is viewed—perhaps to specify that DNA is unique as a chemical entity because it is the carrier of genetic information, and therefore should be treated differently by the law. Policymakers also need to address another core issue at stake—the need for private companies to be reimbursed for their investments in medical research, which is what makes invalidating Myriad’s patent so controversial.
And as far as the case’s impact on research, I will only note that some scientists, like Dr. Richard Nussbaum of UCSF, are determined to find a way around the patent regardless of the ruling. Dr. Nussbaum has launched a non-profit effort called the Sharing Clinical Reports Project, which is asking women who have had their BRCA genes sequenced by Myriad to submit their fully de-identified genotype and phenotype information to an international, open-access database. This project hopes that if it can collect enough patient sequences, it may generate sufficient data for the research community to re-create the genetic knowledge that Myriad currently safeguards.
It is possible that such research efforts in opposition to Myriad’s monopoly may succeed with or without the desired Supreme Court ruling. But the decision, which is expected by this June, will no-doubt be of immense interest to both the legal and scientific community—and in the long-term, it will hopefully generate new discourse to reshape and redefine the way we think about genetics research in relationship to intellectual property.