Navigating a Patent Minefield

Navigating a Patent Minefield

Navigating a Patent Minefield

Researchers in Iowa have come up with a plan to get critical genetic tests to patients at risk for rare but devastating eye diseases. It's working now, but they worry their plan could be a legal time bomb.


Most of the genes are linked to diseases that affect a small number of people, too few to make tests based on the genes commercially viable. So Stone and Sheffield had an idea: Why not just ask the patent holders for permission to test patients?

So far, no one has said no. The Iowa clinic is now offering 22 genetic tests at around $200 per gene (complete tests can cost up to $1,000). But it's not always clear who might own intellectual property associated with one of their tests, and Stone and Sheffield worry that without legislation to protect them, their good luck could run out.

"Fortunately, it doesn't appear that we're in a lot of danger," Stone said. "We've (been) doing this for a year and have not encountered a problem. But not encountering a problem in a year doesn't mean there will be no problems forever. Even a single problem that would require legal representation is just incredibly expensive for a completely non-moneymaking operation."

The ultimate answer, Stone believes, is to amend the Rare Diseases Act of 2002 to include patent freedom for nonprofit organizations that want to provide gene-testing services to patients with or at risk for rare diseases.

The law currently gives financial incentives to pharmaceutical companies to develop drugs for diseases that affect fewer than 200,000 people in the United States and would not otherwise make much revenue. But the law does not address genetic testing.

"(You could) white out the word drug and write in genetic testing," Stone said. "There might be a disease that would affect just a few hundred families in the United States. There's no way that's ever going to make someone a lot of money."

A law exempting nonprofit researchers would not only protect them from unforeseen patent infringement, but it would also save them the trouble of spending the tens of thousands of dollars iit can cost for lawyers to investigate who might own intellectual property on a gene, a portion of a gene, or a protein associated with a gene.

As long as they're not making any money, Stone and Sheffield are likely safe continuing their program as is, patent experts seem to agree. Researchers studying virtually any rare disease could adopt the model for creating tests.

"The minute they go to market they're going to hear about it big time," said Kate Murashige, a life-sciences patent lawyer at Morrison & Foerster. "I would question what would happen if they just ignored the patents. You never know, but nobody in their right mind is going to come after them."

A representative from the U.S. Patent and Trademark Office said that while it's true patent holders rarely enforce their intellectual property when it comes to nonprofit efforts, researchers need to at least ask permission before creating tests. "They wouldn't steal a lab coat from the store and they shouldn't be using someone else's intellectual property without working out an arrangement with them," said Brigid Quinn, a spokeswoman for the patent office.

Some companies, like Athena Diagnostics of Worcester, Massachusetts, do in fact make money by selling genetic tests for rare diseases. Although the individual diseases are rare, they include 6,000 disorders that effect 25 million Americans, according to the National Organization for Rare Disorders. Athena and others might worry about broadening interpretations of a law that grants research exemptions for patents on genetic testing.

"(Stone and Sheffield) are going to catch a lot of blowback as a matter of law because a company like Myriad (which offers genetic tests for a specific type of breast cancer) would have no business if they do that. Companies like Athena Diagnostics are also going to have no business if that exemption goes through," said Robert Cook-Deegan, director of the Center for Genome Ethics, Law, and Policy at Duke University.

Representatives from Athena did not reply to requests for comment.

Stone said he has no interest in competing with companies like Athena. In fact, he'd prefer that companies make genetic tests for rare diseases profitable.

"If a company can figure out how to do that for $200 and make a profit, I say great, please do that, and we'll send all of our (patients) to you," Stone said.

But if the alternative is an exorbitantly expensive test, the reality is that no patients will get it, he said. It's important for the tests to be available, he added, because early diagnosis could lead to better treatment, some gene mutations are more amenable to treatment, and results when interpreted properly can give patients peace of mind.

Another consideration when it comes to rare diseases, especially those that strike, say, just 150 people, is the fact that only the researchers who have intimately studied the families affected by the disease fully understand what it means to carry the gene.

For example, 1 in 10 million people might carry a gene associated with a particular eye disorder. But 95 percent of the people who carry the gene will never manifest the disease, Stone said. If two brothers carry the gene, but just one becomes blind, it's a complicated matter that might best be handled by the world's foremost authorities on the subject.

Some diseases would likely never reach the threshold for commercial viability. Retinitis pigmentosa, for example, affects about 65,000 people in the United States, and 50 different genes are likely responsible for those cases. A few thousand people might carry the gene associated with the most common form of the disease.

When companies can get genetic tests to patients and make money at the same time, that's the best way to serve the patients, Stone said.

"But when the thing isn't working and we find we aren't delivering to patients," he said, "it's time to ask ourselves does this fall below the threshold of the capitalistic strategy?"

Stone and Sheffield presented their case for amending the Rare Diseases Act on Capitol Hill in December. No one jumped to take on the cause. Stone realizes that his case may seem like a non-issue, since no one has sued him yet. He doesn't have the bandwidth to continue trying to persuade someone in Congress to take on the issue, he said.

"But it would be great if someone saw the value in this from the point of view of just making this intellectual property accessible to the population," he said. "Implicit in this whole conversation is that the vast majority of these discoveries were funded by the National Institutes of Health. From my point of view, it is at some level the property of the American people."