Even at a young age, Dr. Christopher Mason was struck by the idea of spending the rest of his life unraveling the mysteries of the human genome.
"By the time I was in eighth grade, I knew I wanted to be a geneticist," said Dr. Mason, an assistant professor of physiology and biophysics and an assistant professor of computational genomics in computation biomedicine at the HRH Prince Alwaleed Bin Talal Bin Abdulaziz Al-Saud Institute for Computational Biomedicine at Weill Cornell Medical College. "I was fascinated by how you start life as a single cell, and that in that one cell there is a complete genetic, dynamic recipe to create an entire human being that eventually is composed of trillions of cells. But, we do not yet understand the grammar of life's molecular code, even if we can see the letters in the book."
Dr. Mason has spent his career looking for genetic mutations that are responsible for aggressive diseases. It was while he was a postdoctoral fellow at Yale University that he made a discovery that would lead him down an unexpected path to the U.S. Supreme Court.
"I was looking for specific genes that were associated with brain malformations," he said. "It became clear that you often don't know the cause of the disease, so you'll look at five or 20 genes at a time; sometimes you'll have a list of 100. And I came across a study indicating that as many as 19 percent of human genes were patented. That was surprising. For one, I didn't realize that you could patent genes; and two, it meant that just by doing my normal research in the lab I would have a one in five chance of infringing on a patent."
Concerned that these patents could debilitate research, Dr. Mason started approaching members of the U.S. House of Representatives and U.S. Senate, supporting a bipartisan bill introduced in early 2007 called the "Genomic Research and Accessibility Act" that would have prevented further gene patents. While making his rounds on Capitol Hill, he found likeminded individuals from the American Civil Liberties Union, the Public Patent Foundation, the American Medical Association and the Association for Molecular Pathologists. Together, they filed a lawsuit in 2009 to challenge the patents.
In March, Dr. Mason published a study in Genome Medicine that showed that as much as 100 percent of human DNA could be considered off-limits to researchers due to the broad scope of many patents that companies hold on genes.
"Just as we enter the era of personalized medicine, we are ironically living in the most restrictive age of genomics," Dr. Mason said. "You have to ask, how is it possible that my doctor cannot look at my DNA without being concerned about patent infringement?"
Three months later, the Supreme Court answered that question in the case Association for Molecular Pathology vs. Myriad Genetics, which had the patents to the BRCA1 and BRCA2 genes. Mutations in the BRCA1 and BRCA2 have been linked to markedly increased chances of hereditary breast and ovarian cancer. And since Myriad had the patents, they also had a monopoly on genetic testing for the BRCA1 and BRCA2 genes.
The nine justices ruled unanimously that human genes can't be patented, saying in their brief: "A naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated..."
"This is the fulfillment of a seven-year long struggle and dream that we can liberate the genome, as I like to say," Dr. Mason said. "It's a clear, gigantic win for patients. It means if you want to have additional research, cutting edge research, second opinions on any of your breast cancer associated or other disease related genes, you now have that freedom. It opens the floodgates of research for other people who want to work on these genes."
The Supreme Court, however, also decided that a synthetic version of DNA created in a laboratory called complementary DNA, or cDNA, is eligible for patents because it does not occur organically in nature. But Dr. Mason doesn't think the fight is over just yet. In fact, a new round of patent lawsuits have already been launched against companies that wanted to offer independent testing of the genes, both for work on DNA and also cDNA.
However, Dr. Mason suspects that these other methods and even cDNA will be ruled ineligible for patents because of the ease with which cDNA is developed. Simply adding an enzyme to DNA essentially creates synthetic DNA, which Dr. Mason and many other geneticists think isn't a distinct enough difference to be considered patent-eligible.
Regardless of what happens with cDNA, Dr. Mason's advocacy for genetic liberty has helped bring a breath of fresh air to an area of medicine that was suffocating under patent burdens, and this should help expedite the use of genomics for personalized medicine.