It took 30 years for a successful challenge in the Supreme Court to gene patents
WHO owns your genes? You do, the US Supreme Court has finally declared. In June the court overturned a 30-year legal precedent that had granted companies the right to patent genes. In their unanimous ruling, the judges declared: “A naturally occurring DNA segment is a product of nature and not patent-eligible merely because it has been isolated.”
The ruling concluded a long-running case, the Association for Molecular Pathology v Myriad Genetics. Myriad is a Utah-based company offering a genetic test for two deadly cancer genes — BRCA1 and BRCA2. A positive result gives a woman up to an 80% chance of developing breast cancer and a 50% chance of ovarian cancer.
The new ruling stops anyone monopolising a genetic test, as Myriad had largely done in the US. It comes just in the nick of time. Gene patents were starting to stifle the medical revolution that cheap human genome sequencing should be driving. “We were fearing a scenario that patents would tie up our ability to exploit the human genome,” says Robert Nussbaum, director of genomic medicine at the University of California, San Francisco. With 8,000 genes — 40% of our genome — already under patent, the dreamed-of $100 genome-reading was in danger of becoming a costly nightmare if gene owners decided to charge licence fees. Worse, there might not have been much point in reading your genome, because geneticists would not have understood what they were reading without data on the health ramifications of particular gene variants — data that companies like Myriad had decided not to share.
The Supreme Court’s decision seems a no brainer, so why did it take 30 years to successfully challenge gene patents? Probably because, for most of that time, gene patents were not too bothersome, suggests Hank Greely, director of the Stanford Center for Law and Biosciences in California. “Most patent challenges involve one biotech company acting against another. It’s not been in either of their interests to challenge the principle of gene patents,” he says.
For a while, the public benefited too. Before the days of cheap genome sequencing, biotech firms generally patented genes for making medicines. By slotting the relevant gene into a bacterium, they could churn out useful human proteins such as insulin and growth hormone. With the advent of genetic testing, the significance of gene patents changed. The combination of a commercially aggressive gene-testing company and a deadly form of breast cancer brought the matter to a head, leading the Association for Molecular Pathology, representing pathologists, geneticists and patients, to take action.
Myriad’s virtual US monopoly allowed it to charge $4,000 for the test. With no other test available, women could not get a second opinion to confirm their result, a galling scenario given the error-prone history of genetic testing.
But perhaps the worst consequence was that Myriad did not share the data it was accruing on gene mutations and cancer outcomes, which is bad for all of us.
The BRCA1 gene is some 126,000 letters long and “misspellings” can occur anywhere. If, like Angelina Jolie, a woman has a deadly family history and the same misspelling
as her deceased mother and aunt, her odds of developing the cancer are extremely high. But women without a family history are also tested, and 10-15% of the time the geneticist cannot tell the woman whether the particular mutation they carry is deadly or not: it is a so-called “variant of uncertain significance” or VUS. Women receiving this result are left to agonise over what it means. As we enter the era of widespread genetic testing, the problem is mushrooming. “This is the number one question facing us in advancing whole genome sequencing,” says Nussbaum.
The only way to make progress on VUS is to pool data on gene tests that show just which misspellings are associated with breast cancer. Where Myriad did women a great disservice was by keeping such data to itself.
With the Supreme Court’s decision, researchers can now investigate the genes without fear of litigation. The very day the court made its ruling also saw the launch of “Free the Data”, a movement to gather the existing gene test results currently languishing in clinics, kept private out of fear of legal threats. Nussbaum, one of the drivers of the movement, estimates that there must be hundreds of thousands
of existing test results. When it comes to BRCA1 and BRCA2, he says they have already accrued 6,000 entries and are shooting for 60,000. “Once we’re there we’ll be in good shape to inform women what their VUS means,” says Nussbaum.
So what does the ruling mean for biotechnology companies? Probably not much, says Greely. The Supreme Court ruling only overturns the patentability of naturally occurring gene sequences. The court upheld some aspects of the Myriad patent, crucially that a synthetic “spliced” copy of the gene known as cDNA is patentable. That decision protects biotech companies relying on cDNA to produce gene-based medicines.
It also offers comfort to Myriad, which has issued a lawsuit against Ambry Genetics and Gene by Gene for infringing the cDNA part of its patent. In other words, rivals can not simply copy Myriad’s BRCA1 and BRCA2 test, but they are now free to develop their own. Given the slew of companies developing novel, low-cost methods for reading DNA, those new tests shouldn’t be far away.
