Can human genes be patented? The Supreme Court is set to decide just that later this summer in a decision that could have a deep and lasting effect on medical research.
In Association for Molecular Pathology, et al. v. Myriad Genetics, the high court is considering the validity of patents held by Utah-based Myriad Genetics for the BRCA1 and BRCA2 genes, which are associated with an increased risk of breast and ovarian cancer.
Dr. Arthur Caplan
Scientists at Myriad Genetics uncovered the link between the BRCA1 and BRCA2 genes and the increased risk for cancer and patented the discovery in the mid-1990s. Since then, they have held the exclusive rights to the diagnostic testing for the mutations.
The company, however, has been criticized for setting the price of its BRACAnalysis, which tests for mutations on both genes, too high. Also, critics say that, since no one else can run the test, it’s impossible to get a second opinion.
So in 2009, the Association for Molecular Pathology, the American Civil Liberties Union, and several women’s health groups filed suit against Myriad in an effort to invalidate the company’s patents. In the most recent court ruling, a federal appeals court sided with Myriad and upheld the patents.
The Supreme Court recently heard oral arguments in the case and is expected to release its decision at the end of June.
Opponents of gene patenting, including the American Medical Association, contend that Myriad doesn’t have the right to patent human genes because these are products of nature and have not been altered. The AMA, which filed an amicus brief in the case, is also opposed to the patents on ethical grounds.
"Medical innovations that provide insight into natural human biology must remain freely accessible and widely disseminated, not hidden behind a vast thicket of exclusive rights," Dr. Jeremy Lazarus, AMA president, said in a statement. "Blocking this information interferes with diagnosis and treatment of patients and inhibits new medical discoveries."
Myriad argues that its patents aren’t for the genes themselves but for the synthetic molecules based on the genes, which are created in the lab. These molecules are different from what is found in nature or the human body, according to Myriad.
On a practical level, invalidating the patents would "chill" future biomedical research, according to the Biotechnology Industry Organization (BIO). In an amicus brief in support of Myriad, the organization warned that the chilling effect would apply to nondiagnostic uses for isolated human DNA, the untapped potential of isolated nonhuman DNA, the use of RNA molecules such as microRNA, and other isolated molecules such as therapeutic proteins and antibiotics. BIO said that future advances in vaccination also could be threatened if the Myriad patent case failed. For example, without the hope of patent protection, companies might not continue to work toward making vaccines that use small pieces of DNA to trigger antibody production. This area of research, which is in the early stages, holds the potential to produce vaccines for diseases such as HIV and cancer, according to BIO.
But bioethicist Arthur Caplan, Ph.D., said that the idea that research would be stifled if patents on genes were overturned is "sheer nonsense."
"Most of the money to understand human genes came from the taxpayer, through the form of the genome mapping project," said Dr. Caplan, who is the director of the division of medical ethics at the New York University Langone Medical Center. "It wasn’t funded by private companies."
No matter what the court decides, there isn’t likely to be a major practical impact, Dr. Caplan said. Since Myriad’s 20-year patent exclusivity is about to expire, diagnostic testing on BRCA1 and BRCA2 will soon open up. So in terms of a fight about cost and access, the case is a little late, he said.
"I don’t think the case is momentous if you’re someone thinking about getting a breast cancer test because the situation is going to likely change pretty soon no matter what the court says," Dr. Caplan said.
Dr. James P. Evans, professor of genetics and medicine at the University of North Carolina at Chapel Hill, agreed.
"This is a classic example of the science having outstripped the legislative and judicial arenas," Dr. Evans said.
For starters, genome sequencing has become so routine that there is patent infringement going on "right and left," he said, which is likely to continue regardless of what the Supreme Court rules in the case. "I think the horse is out of the barn," he said.