Christopher Mason felt euphoric. On the morning of 13 June 2013 Mason, a geneticist at Weill Cornell Medical College in New York, had just heard news of the Supreme Court's opinion in the case Association for Molecular Pathology et al. v. Myriad Genetics, Inc., et al. The Court had decided that "a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated."
"I was ecstatic," Mason says. "This was a huge victory for patients, scientists, and clinicians; the genome is finally free, your genes are finally yours." For 15 years Myriad's patents had given it a monopoly on BRCA gene testing in the United States, limiting the availability of the test and making it impossible for some patients to obtain a second opinion on their results. Concerned that gene patents put him and other researchers at risk of expensive lawsuits, Mason had worked as an expert witness in the case and coauthored a paper in Genome Medicine exploring the ways in which patents like Myriad's clashed with basic concepts in genetics and could stifle genetic research.
After the June ruling, many news outlets reported that the Supreme Court had ruled that "human genes cannot be patented." But much of the coverage missed the ambiguity in the decision and the divide between legal doctrine and scientific understanding reflected in the case. And although the Court's decision settled some vexing problems, many questions remain.
BRCA1 and BRCA2, the genes at the center of the Myriad decision, have been highly conserved throughout millions of years of evolution. The genes exist not just in humans but also many other creatures, down to invertebrates and yeasts. These tumor suppressor genes code for proteins that work to repair double-stranded breaks in DNA. Mutations of the BRCA genes can lead to improper formation of the associated proteins, which in turn may play a role in cancers of all kinds, not just breast and ovarian cancers.