The question before the U.S. Supreme Court today – should human genes be patented? – sounds complex and legalistic.
But for cancer patients such as Kathleen Maxian of Pendleton, it’s a matter of life and death.
“Everyone has genetic predispositions that put them at greater risk for some disease. If a patent limits access to that information, you are making a decision about someone’s life,” she said.
Maxian suffers from the late stages of ovarian cancer, and she wonders if it’s all because of the policy of Myriad Genetics, which controls the patents behind two genetic tests that can detect a family propensity for breast and ovarian cancer.
Maxian didn’t receive the second of those two tests. If she had had that test, she might have had her ovaries removed before they became cancerous.
“I shouldn’t have this cancer,” says Maxian, whose story goes to the heart of the concern over patenting genes. “If this can happen to me, it can happen to thousands of people.”
Myriad’s monopoly over such tests is at issue now before the Supreme Court in a case that could have huge ramifications for the multi-billion-dollar biotech industry, medical researchers, health care providers and patients.
“The implications of this case could be broad,” said Randolph Clower, a patent law attorney with Phillips Lytle. “Will biotech companies be able to attract the investment needed for medical advances if there are restrictions on patents? Will the quality of health care decline if you can’t protect certain inventions? What will this imply for other things isolated from natural products like those used in agribusiness?”
It’s a case that finds the Supreme Court parsing established law to find the legal boundaries that will govern some of the world’s most important medical research.
Not the real thing
It’s unlawful to patent products of nature, and human genes are products of nature. But the biotech industry uses isolated fragments of human genes or constructs versions of human DNA in the laboratory, and it considers these to be inventions different enough from the real thing to be eligible for a patent.
Biotech firms argue that it’s only fair that they get the monopoly benefits of a patent for any medical invention that’s rightfully theirs. As a result, more than 40,000 DNA-related patents have been issued over the last 30 years for all sorts of medical tests, therapies and research tools.
It has become accepted practice to give companies exclusive rights for diagnostic tests and therapies they develop based on natural substances. But what should the law say when the information contained in those substances – genes – tells patients their risk of living or dying?
For Maxian, the answer is simple.
“Companies and their investors have a goal of making money,” she said. “Our laws need to make sure that we have policies that look out for the people.”
That’s the argument being brought to the high court by the American Civil Liberties Union and the Public Patent Foundation on behalf of an assortment of national organizations of doctors, scientists, genetic counselors and other health care professionals. Women’s health and breast cancer organizations and patients at risk of or diagnosed with hereditary breast or ovarian cancer are also involved in the case.
Dictating terms of tests
Myriad’s patents give it the exclusive right to perform diagnostic tests for two genes that everyone carries known as BRCA1 and BRCA2. A woman with mutations in these genes has a much higher risk of breast or ovarian cancer.
The legal challenge contends Myriad’s monopoly on the BRCA genes allows it to dictate the terms of testing and bars other laboratories from testing the genes to verify the accuracy of Myriad’s results. Though Myriad has not exercised its authority to block all research, the legal challengers say the company’s claims also have had a chilling effect by dissuading researchers from using the patented genes for scientific studies.
Myriad and others in the biotech industry argue that isolating the gene fragments used in constructing the tests ought to be patent-eligible. Without patent protection, Myriad and its allies say, it will be much more difficult for companies to bring innovations to market, a process that can take many years and tens of millions of dollars.
In the shadow of those legal arguments stand women like Maxian.
The hereditary link
Maxian’s sister, Eileen Kelly, developed breast cancer at age 40 in 2007 and underwent the Myriad test to see if she carried a BRCA mutation. The result came back negative.
BRCA testing at that time detected most, but not all, possible mutations with a link to hereditary breast and ovarian cancer.
Myriad offered a supplemental test known as BART for the remaining mutations to high-risk patients who met certain criteria, such as a strong family history of cancer. Critics of Myriad, which has since combined the tests, say the criteria were too narrow.
Maxian, 52, developed ovarian cancer in 2009, and her doctors gave her a 20 percent chance of living five more years. That prompted her sister to go back and get the BART test, which picked up the genetic abnormalities.
Maxian said that, had her sister been given the BART test initially, the family would have learned that she, Kelly and others carry a mutation that placed them at high risk. Maxian could have had her breasts or ovaries surgically removed, procedures some women choose to have to prevent disease.
Maxian’s sister is in remission. But Maxian is in her third round of chemotherapy and has gone through several surgeries, including a hysterectomy and the removal this year of lymph nodes around her liver. Her spirits are good, but the ordeal has taken a physical and emotional toll.
And all of that, she said, could have been avoided if the BART test, which costs about $3,000, had been made available to her sister.
Meeting the criteria
Myriad offered BART at an additional cost but also provided it free of charge to some women with a strong family history of breast or ovarian cancer.
However, Mollie Hutton, Maxian’s genetic counselor at Roswell Park Cancer Institute, said the BART test was not always recommended, because of the professional consensus then about who should get the test based on the Myriad criteria.
At the time, women who did not meet the BART criteria could get the test for a fee, but most insurance companies did not cover it.
“We had a handful of cancer cases that were not picked up. It happened more frequently than people then believed it would,” she said.
Now, though, the Supreme Court will decide whether Myriad should have that kind of monopoly control over such tests. In doing so, it will resolve a conflict between two court decisions in the case.
The U.S. District Court for the Southern District of New York ruled in 2010 that genes could not be patented.
But the Court of Appeals for the Federal Circuit reversed that ruling in 2011.
It’s unclear what the Supreme Court will do.
A question of ethics
Historically, courts have been fairly generous to patent-holders. But there is something bothersome to people about the ethics of patenting genes, said Mark Bartholomew, a University at Buffalo law professor.
Clower, of Phillips Lytle, said that by accepting the broad question – should human genes be patented? – the court has likely set the stage for rebalancing the interests of patent-seekers and the public.
”We assume there will be some limits. It’s going to have a chilling effect on industry. We just don’t know the degree,” he said.
To Maxian and others, current law gives private companies control over an essential part of the body and will impede doctors’ ability to examine patients’ DNA to treat diseases with a genetic link.
That life-and-death power, she notes, has an effect on medical care.
“If you are going to patent something and limit access, you are making a decision about someone’s life,” she said.