The issue arises in a challenge to patents held by Myriad Genetics, a Utah-based diagnostic testing and research firm that developed a way to detect genetic mutations (called BRCA1 and BRCA2) that scientists associate with a higher risk of breast and ovarian cancer.
The process is described by the company’s lawyers as akin to locating a particular grain of sand in a space the size of the Empire State Building. The tests have helped over a million patients identify risks and develop treatment strategies.
But the American Civil Liberties Union and the Public Patent Foundation charge that Myriad Genetics is actually hindering scientific innovation and undercutting access to medical care for patients who need it.
They charge that the company is using its patents to prevent other researchers from developing new tests and that the company has prevented thousands of women from obtaining more accurate screening tests.
Kathleen Maxian is a patient undergoing treatment for Stage-4 ovarian cancer. Her doctors told her after surgery that she had a 20 percent chance of living for five years.
She said two years earlier her sister was diagnosed with breast cancer. At the time, the sister went to Myriad to determine whether the disease might be genetically-based. The results suggested it was not.
What Maxian and her sister did not understand was that Myriad only performed one test. There is a second test that can be performed, but Myriad only performs it on women with a family history of breast or ovarian cancer. Since no one in Maxian’s family had that history, her sister did not receive that test.
Later, after Maxian’s own diagnosis, the sister qualified for the second test and was identified as positive for the genetic mutations.
Maxian told her story to reporters during a recent ACLU teleconference. She said if her sister had been tested more thoroughly by Myriad, her own cancer might have been prevented.
Other laboratories are willing and able to provide the extra testing, but Myriad threatened them with patent-infringement lawsuits, she said.
“I can’t stand up to take my genes back,” she said. “I stand up to help you take your genes back. And until my last breath I will tell this story for all the other women and families like me who want to be able… to make lifesaving decisions based on the best scientific information available.”
ACLU lawyers said it was improper for the government to issue patents that allow Myriad exclusive control over the mutated genes.
Since Myriad Genetics did not invent the genes, the company should not enjoy monopoly power over them by virtue of a patent, they argue.
“Myriad has a monopoly on clinical testing of its genes in the US, dictating the type and terms of BRCA genetic testing,” wrote ACLU lawyer Christopher Hansen in his brief to the court.
Mr. Hansen says the patents allow Myriad to block avenues of scientific research and stop the development of new types of clinical testing of BRCA genes that seek to utilize newer innovations.
“Myriad can even prevent scientists from looking at their own genes,” Hansen said.
At the center of the case is whether the process developed by Myriad is a man-made invention or just recognition of a natural process, a law of nature.
Patent protection is authorized by federal law and the US Constitution. Article I, Section 8 empowers Congress to “promote the progress of science and useful arts, by securing for limited times to authors and inventors the exclusive right to their respective writings and discoveries.”
The idea is to offer a strong incentive for individuals or companies to undertake the difficult work of innovation and discovery.
Modern research firms must convince investors that their labor will eventually bear fruit – and profits.
But to qualify for patent protection, the innovation must be a product of human ingenuity rather than merely a product of nature.
That’s the essence of the dispute in Association for Molecular Pathology v. Myriad Genetics (12-398).
Myriad says its process uses a newly-created chemical composition that does not occur in the natural world. The company “isolates” the targeted DNA molecule in a way that permits the identification of the mutation on the gene that researchers say is predictive of a higher incidence of breast or ovarian cancer.
Hansen disputes this. “Myriad defends its [patent] claims on the grounds that a gene becomes a human invention when removed from the human body (‘isolated’),” he said.
“Under this rationale, a kidney ‘isolated’ from the body would be patentable, gold ‘isolated’ from a stream would be patentable, and leaves ‘isolated’ from trees would be patentable,” he said in his brief.
He said the company’s argument defied common sense and violated the prohibition on issuing patents to protect claimed innovations demonstrating nothing more than the laws of nature.
In a friend of the court brief, a research scientist at the University of Illinois, Ananda Mohan Chakrabarty, argued that there was a substantial difference between “isolated” kidneys, gold, and leaves and Myriad’s system of molecular diagnostics.
“A human kidney that has been removed (isolated) from the body does not have any utility apart from that which existed in nature,” Mr. Chakrabarty said in his brief. “Neither does a polished diamond, nor gold taken from a stream, nor a leaf snapped from a tree.”
“But the Myriad patents… allow for genetic testing and drug screening for a permanent cure for cancer that would be impossible with non-isolated mutation-harboring DNA as it exists in the genome of a vulnerable woman,” he said. “For that reason, they should be patent-eligible.”
Chakrabarty said courts examining patents granted for gene research should weigh whether the innovation provides “specific, substantial, and credible utility” different from what is found in nature.
Chakrabarty speaks from experience. In 1980, the US Supreme Court upheld the patent for his discovery of how to increase the ability of a bacterium to help degrade crude oil. The innovation held great promise to speed cleanup after environmentally-devastating oil spills.
“Even though I had used natural materials to build my invention, the court found it patent-eligible based on its new, significant utility,” he said.
Hansen of the ACLU said in his brief that offering patent protection for Myriad’s process of isolating DNA “ties up all basic uses of the BRCA1 and BRCA2 genes, foreclosing more future innovation than the underlying discovery could reasonably justify.”
“The patents exclude using the genes for research, clinical genetic testing, and the development of therapies,” he said. “And these fears are not hypothetical; in practice, Myriad has used it patents to shut down clinical care and impede research.”
Hansen added that unjustified patent protection raises First Amendment issues. “Such restrictions on an entire field of knowledge give control over thought and pure information, in violation of the Constitution,” he said.