The Supreme Court is poised to take up the highly charged question of whether human genes can be pa.0.
tented. But another question could trump it: Has the field of genetics moved so far so fast that whatever the court decides, it has come too late to the issue?
The case, which will come before the court on Monday, involves patents held by Myriad Genetics on two human genes, which, when mutated, give a woman a high risk of getting breast or ovarian cancer. The patents give Myriad a monopoly on testing for these mutations, a highly lucrative business.
The hearing comes as rapid scientific advances are producing an explosion of new information about human genes, as well as those of animals, plants and microbes, yielding new approaches to detecting and combating diseases.
Opponents of gene patents say no company should have rights to what is essentially part of the human body. They contend that Myriad’s monopoly has impeded medical progress and access to testing — in some cases denying patients their own genetic information.
Myriad and its allies in the biotechnology industry counter that a ruling that invalidates gene patents would upend three decades of patenting practice and undermine billions of dollars of investments to develop not only genetic tests but also biotech drugs, DNA-based vaccines and genetically modified crops.
“It would chill a wide range of important activities that benefit society,” the Biotechnology Industry Organization said in a friend of the court brief, one of about 50 such briefs filed in a sign of the case’s potentially far-reaching consequences.
But while the debate continues, some experts say patents on human genes are actually fading in importance.
“Events on the ground have overtaken the law,” said Dr. James P. Evans, a professor of genetics and medicine at the University of North Carolina. He said the impact of the Supreme Court’s decision “will be much more ideological than it will be practical.”
For one thing, the Myriad patents at issue are due to expire over the next two years. And experts say a relatively small number of other diagnostic tests or drugs are protected by patents on single genes.
“I don’t think this affects many patents that really matter to companies,” said Robert Cook-Deegan, a professor at Duke University’s Institute for Genome Sciences and Policy.
It is often said that one-fifth of the roughly 20,000 human genes are patented. But in a study, Christopher Holman, a professor of law at the University of Missouri, Kansas City, found that many of those patents merely mentioned genes but would not block genetic testing, and many patents had been allowed to lapse.
Moreover, it will soon be possible to sequence a person’s entire genome for less than the $4,000 that Myriad charges to analyze just two genes, which are called BRCA1 and BRCA2. And whole genome sequencing might not infringe patents on isolated genes.
The case before the Supreme Court was filed in 2009 by the American Civil Liberties Union and the Public Patent Foundation on behalf of some medical societies, researchers and patients.
The question before the court is whether isolated human genes are products of nature, and therefore ineligible for patents, or are sufficiently different from the genes found inside the body’s cells.
The plaintiffs won the first round when Judge Robert W. Sweet of Federal District Court in Manhattan said that isolated DNA was the same as DNA in the body in what really mattered — the genetic information it carries.
But Myriad prevailed at the United States Court of Appeals for the Federal Circuit, twice, by 2-to-1 decisions. One of the majority opinions said that DNA was a chemical, not an information medium, and that disconnecting DNA from the chromosome changed it enough structurally to qualify for patenting.
The plaintiffs, appealing to the Supreme Court, are challenging this. “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,” they say in their brief.
Myriad and allies argue that patents can and have been granted on products derived from nature — like the immune-suppressing drug rapamycin, which comes from a bacterium — as long as sufficient inventiveness is involved.
Briefs in support of the plaintiffs were submitted by the American Medical Association, AARP, and various consumer and patient advocacy groups. Supporters of Myriad include drug companies, biotech seed companies and venture capitalists. Diagnostic companies appear split.
The Obama administration, breaking with longstanding policy of the Patent and Trademark Office, says isolated genes should not be patentable. They are medically useful, it says in its brief, “precisely because isolated DNA operates in exactly the same way in a laboratory as it does in its natural environment.”
If the Supreme Court, which has shown a recent tendency to rein in patenting, were to say genes cannot be patented, the impact could depend on how the opinion was worded. Drugs, vaccines or crops might still be protectable even without patents on genes because other steps are involved in their creation.
An advisory committee to the Health and Human Services Department said in a 2010 report that gene patents were not necessary to spur development of genetic tests. There are about 50 tests offered for mutations that cause cystic fibrosis, for instance, despite the lack of the exclusivity that patents provide.
The committee did find instances in which patents inhibited patients’ access to testing.
Ellen T. Matloff, director of cancer genetic counseling at the Yale Cancer Center and a plaintiff in the case, described a woman with a history of breast and ovarian cancer who tested negative for BRCA mutations on Myriad’s test in early 2006. Ms. Matloff said Myriad refused to let Yale researchers look for mutations, in this patient or others, that they suspected the test missed.
Myriad later introduced a supplemental test to detect genetic changes missed by its main test, but the woman’s insurer would not pay for it until last October. By then, the woman’s daughter had developed breast cancer that might have been detected at a more treatable stage had the women known about the mutation.
Ms. Matloff did not identify the woman and her daughter to protect their privacy.
Mark C. Capone, the president of Myriad Genetic Laboratories, said the company had no knowledge of any discussion with Yale.
He said Myriad had invested $500 million to make a success of BRCA testing. He said 18,000 researchers had published 10,000 papers on those genes, a sign that research was not being hindered.
Myriad made $405.5 million from BRCA testing in its last fiscal year, accounting for more than 80 percent of its revenue.
One concern going forward is that a thicket of patents on individual genes will impede development of newer tests that look at multiple genes or of whole genome sequencing.
InVitae, a start-up developing a single test for all rare inherited diseases, filed a brief arguing against gene patents for this reason. Ambry Genetics already offers a test for 14 genes that raise the risk of breast cancer, but it leaves out the two most important genes because they are patented by Myriad.
But Dr. Evans said that in general, whole genome sequencing is taking off, apparently unimpeded by patents. And cancer centers are already sequencing many genes from patients’ tumors to help determine the best drugs to use.
Dr. Cook-Deegan of Duke, along with Timothy Caulfield of the University of Alberta and some other researchers, argued in a recent essay that the Myriad case “stands as an example of the power of an anecdote or outlier case rather than definitive proof of systemic problems” with gene patents.
“In total,” they wrote in the journal Genome Medicine, “the available evidence tells us that the alleged harms (and, for that matter, the suggested benefits) of human gene patenting have been overstated and oversimplified.”