Trying to simplify science

The justices of the U.S. Supreme Court talked of baseball bats and chocolate chip cookies Monday during arguments in a case challenging patents for human genes. The bats and cookies served as helpful analogies as the justices questioned lawyers about complicated science. The questions suggested the court might strike down some, but not all, gene patents.

In the case, the American Civil Liberties Union—representing several cancer patients, doctors, and medical groups—is asking the high court to void gene patents held by Myriad Genetics, a Salt Lake City-based biopharmaceutical company. Myriad is the current or former co-owner of patents covering BRCA (“breast cancer susceptibility”) genes—DNA segments that can indicate whether a woman has a higher-than-average risk of developing breast and ovarian cancers.

The question at the heart of the case is whether companies should be able to patent a portion of human DNA isolated from the body, thereby barring other researchers from analyzing the gene without permission. If the justices rule Myriad’s patents invalid, the decision—depending on how broadly it is written—could have implications for biotech companies with patents involving personalized drugs, genetically modified crops, or “green” biofuels made by modified organisms.

But on Monday some justices seemed to struggle with the idea that a sequence of human genetic code, even if isolated from the body, could be considered a human invention rather than a product of nature, which is not patentable.

“I can bake a chocolate chip cookie using natural ingredients—salt, flour, eggs, butter—and I create my chocolate chip cookie. And if I combust those in some new way, I can get a patent on that,” said Justice Sonia Sotomayor. “But I can’t imagine getting a patent simply on the basic items of salt, flour, and eggs, simply because I’ve created a new use or a new product from those ingredients.”

The attorney for Myriad, Gregory Castanias, called the cookie analogy “really simplistic,” and offered another: baseball bats.

“A baseball bat doesn’t exist until it’s isolated from a tree,” he said. “But that’s still the product of human invention to decide where to begin the bat and where to end the bat.”

Chief Justice John Roberts didn’t quite buy the illustration: “The baseball bat is quite different. You don’t look at a tree and say, well, I’ve cut the branch here and cut it here and all of a sudden I’ve got a baseball bat. You have to invent it.”

In contrast, Roberts said, gene patents seemed to allow someone to “snip” a segment of DNA and claim it as an invention, without changing the segment itself.

The U.S. Patent and Trademark Office has awarded more than 50,000 gene patents to researchers since 1970, covering genes from humans, plants, and animals. By the count of one study published in Genome Medicine last month, 41 percent of the human genome is claimed by U.S. patents. Advocates of DNA-based patents say they give researchers a financial incentive for innovation.

Sales of BRCA tests generated four-fifths of Myriad’s income in the last fiscal year, worth $406 million. Several biotechnology companies filed court briefs in support of Myriad.

“To create tests for hereditary breast cancer and ovarian cancer, our company and its investors spent more than $500 million over 17 years before we were able to recoup this investment,” said Myriad president Peter Meldrum in a USA Today op-ed posted online Sunday. “We think it is right for a company to be able to own its findings, just as pharmaceutical and other companies do all the time.”

Patients’ rights advocates disagree, and argue a person owns his or her genes and therefore has the right to ask a doctor to look for harmful mutations, patent or not.

“Patents on human genes interfere with physicians’ ability to provide appropriate care to their patients,” wrote the American Medical Association and several doctors’ groups in a brief.

Even James Watson, one of the two men who discovered the double-helix structure of DNA in 1953, chimed in with a court filing: “Life’s instructions ought not be controlled by legal monopolies created at the whim of Congress or the courts.”

“To patent genes is essentially commodification of parts of the human body,” said Barrett Duke, the vice president for public policy and research at the Ethics and Religious Liberty Commission, the public policy arm of the Southern Baptist Convention. Although Myriad claims it only patents gene sequences once they are isolated from the body, Duke asked me over the phone Monday, “What’s the difference between doing that and taking a bone out of your leg and patenting it?”

Women who inherit a mutated BRCA gene have a 36 to 85 percent lifetime risk of developing breast cancer, and a 16 to 60 percent chance of developing ovarian cancer. For some women, learning they have a BRCA mutation and a family history of cancer is reason enough to ask a doctor to remove breasts or ovaries as a preventative measure, even if no tumor has been found in their body.

But to have their BRCA genes checked, women can use only one company, Myriad, which charges a hefty $3,340 for its test. Critics say Myriad’s patents prevent other companies from developing their own tests for the BRCA genes and perhaps lowering the cost.

Women who want a second opinion before deciding on a mastectomy can’t get one without Myriad’s permission, because the company controls a private database indicating which mutations carry a cancer risk.

Myriad had been sharing risk data with the National Institutes of Health until 2004, when it withdrew because, according to Myriad, other researchers were using the data inappropriately. Myriad claims it allows women to seek an independent second opinion through LabCorp. But in the end LabCorp’s test results are interpreted by Myriad.

One researcher from the University of California, San Francisco, has already decided to take matters into his own hands: Since Myriad won’t release its risk data, Robert Nussbaum launched a project to pay researchers and doctors to submit individual Myriad test results (there are millions of them) for a small payment. By compiling the test results, the project will attempt to replicate Myriad’s secret database. The “Sharing Clinical Reports Project” has catalogued hundreds of BRCA mutations since it began a year ago.

In deciding the case, the Supreme Court could try to take a balanced approach by striking down gene patents that apply to unaltered, isolated genes, and leaving untouched patents of genetic material that have been manipulated in certain ways.

The case, Association for Molecular Pathology v. Myriad Genetics, was originally filed in 2009 and has bounced around in lower courts, where federal judges have alternately struck down and upheld the BRCA patents. Since Myriad’s 20-year patents on the BRCA genes will expire within two years, some observers say the Supreme Court’s ruling—expected in June—will come too late to have much of an effect on the availability of BRCA testing.