US Supreme Court Hears Arguments in BRCA1/2 Patenting Case

The question of whether it should be legal to patent genes, with two breast cancer genes at the center of the argument, has reached the US Supreme Court, and the impending decision by the highest federal court in the country could significantly transform the current research landscape.

The company on the defensive end of the case is Salt Lake City, Utah-based Myriad Genetics, a molecular diagnostic company that was responsible for the development of the BRACAnalysis test. Myriad holds the patent on the BRCA1 and BRCA2 genes, which are associated with a greater risk of development of breast and ovarian cancer. Because Myriad holds the patent, all testing for the two genes must be done with the company’s test. Before any insurance coverage, the test costs approximately $3340.

The patent, which will expire in approximately two years, has prevented other companies from developing tests that identify BRCA1 and BRCA2 mutations. In a statement from the Association for Molecular Pathology (AMP), one of the plaintiffs in the case, patents on genes have the potential to cause monopolies and allow companies to restrict access to databases containing genetic information acquired through these tests, thus preventing the medical community at large from using any of that information.

“Gene patents prevent pathologists from reading their patients’ DNA sequences to assess their risks for disease, their prognoses, or their potential responsiveness to therapy,” said Iris Schrijver, MD, director of the Molecular Pathology laboratory at Stanford University and president of AMP, in a statement released when the association appealed a ruling in favor of the patent in September. “The result of this lack of competition is increased test costs, decreased patient access, reduced innovation in the development of new test methods, and dramatically reduced knowledge dissemination.”

The appeal to the high court was filed by the American Civil Liberties Union and the Public Patent Foundation on behalf of AMP and other medical and professional organizations representing more than 150,000 physicians and scientists. Other plaintiffs in the suit include individual physicians and scientists, genetic counselors, women’s groups and patients. The plaintiffs are challenging the patent held by Myriad and the University of Utah, and also the US Patent and Trademark Office, which has been awarding patents on genes for about 30 years. According to a study published earlier this year in the journal Genome Medicine by Jeffrey A Rosenfeld and Christopher E Mason, there are patents on approximately 41% of the genes that have been identified in the human genome.

However, not all physicians who use the test feel as though the patent is harmful to patients or researchers. In an interview at the 30th Annual Miami Breast Cancer Conference in March, Patrick I. Borgen, MD, chair of the department of Surgery at Maimonides Breast Cancer Center at Maimonides Medical Center in Brooklyn, New York, said that in his personal experience with frequent use of the test for research, Myriad Genetics has not impeded his ability to get work done. Likewise, he said that there have not been arbitrary price increases on the test.

“This is an expensive test that generates 30,000 pieces of information per patient, and it’s about a $3,000 test,” Borgen said. “So if there had been what I would perceive as cost price gouging or blocking of research, I would feel very strongly that that was the wrong thing to do. The fact is that we’re sort of lucky that we have a single reference lab that we can trust. We’ve gone back and repeated a lot of tests on patients who were positive with something called an allele-specific oligonucleotide. We have not found a single case where they were wrong, and so having that reference laboratory in some ways is reassuring.”