Ownership stakes

Single mom Lisbeth Ceriani lives just outside of Boston with her 8-year-old daughter. When Ceriani discovered in May 2008 that she had cancer in both breasts, she agreed to a double mastectomy. Because some women who develop breast cancer also have a propensity for ovarian cancer, Ceriani's oncologist advised her to have her DNA tested-specifically, her BRCA1 and BRCA2 genes, telltale markers for cancer susceptibility. But the company that provided the testing, Myriad Genetics, wouldn't accept her Medicaid insurance. At around $3,000, the test was too expensive for Ceriani to pay up front.

Genae Girard, 39, was diagnosed with breast cancer in 2006 and subsequently had her BRCA genes tested by Myriad. The results showed she had a harmful mutation on her BRCA2 gene, multiplying her ovarian cancer risk. Before taking preventive action, perhaps by having her ovaries surgically removed, Girard wanted a second opinion. She found she couldn't get one: Her BRCA genes-just like everyone else's-have been patented, and Myriad holds an exclusive right to test them.

Now Ceriani and Girard are plaintiffs in a lawsuit challenging the constitutionality of gene patents. Organized by the American Civil Liberties Union (ACLU), the suit names as defendants Myriad Genetics and the U.S. Patent and Trademark Office, which has awarded over 50,000 DNA-based patents since 1970, including patents covering human genes. Today, about 20 percent of the human genome is claimed by patents. Advocates of such patents argue they create a financial incentive for innovation, while critics say they create monopolies that stifle scientific progress and raise health care prices.

Defendant Myriad is a Utah-based biopharmaceutical research company that is the current or former co-owner of various BRCA ("breast cancer susceptibility") gene patents. Myriad was co-founded in 1991 by University of Utah geneticist Mark Skolnick and during its infant years raced other scientists to identify the gene involved in hereditary breast cancer. (Inherited BRCA mutations give a woman a 36 to 85 percent lifetime risk of developing breast cancer, and a 16 to 60 percent chance of ovarian cancer.) Skolnick's team won the race, and was granted patents for the BRCA1 gene, and, after a legal dispute, BRCA2. The two patents effectively give Myriad exclusive U.S. rights to test or conduct research on the BRCA genes.

That means that a woman who wants to have her breast cancer susceptibility genes tested must have her doctor mail her DNA sample to Myriad. Although many gene patent owners issue licenses for outside labs to work with the DNA in question for a nominal fee, Myriad allows full sequencing of the BRCA1 and BRCA2 genes only at its private lab. The company has sent cease-and-desist letters to several scientists who have tried to conduct research on the BRCA genes (some of them are now plaintiffs in the ACLU case).

According to the ACLU, Myriad's patents have inhibited breast cancer research. They've kept patients from obtaining second opinions, and kept outside labs from developing their own forms of BRCA testing at a cost possibly lower than the $3,120 Myriad charges. (Myriad does, however, offer free testing to qualifying low-income patients who have no form of insurance.)

Arthur Caplan, director of the Center for Bioethics at the University of Pennsylvania, believes Myriad helped bring the lawsuit upon itself by being "less than cooperative" with efforts to reduce testing costs and improve accuracy. "The prices are monopolistic," he said. "In that sense I think Myriad has been a hindrance to the development of breast cancer testing as much as it's been a help."

Like many other biopharmaceutical companies, however, Myriad obtained its patent rights in a perfectly legal way. U.S. patent office policy states that "DNA compounds having naturally occurring sequences are eligible for patenting when isolated from their natural state and purified." This means that a fragment of human DNA need only be removed from the body and stripped of any non-coding elements to be patentable for 20 years. The patent office also requires patent applications to describe a gene's "utility"-a biological function that has practical application.

"I think [where] the patent office has gone wrong is in giving patents where people haven't shown clear utility," said Caplan. He believes patenting genes can be a good idea if the sequences are part of a test or a drug, but he thinks the patent office should be more willing to revoke patents if the owner is using them to stifle medical progress.

In Europe, opponents to Myriad's gene patents have met with success. In 2004 and 2005 the European Patent Office revoked several of Myriad's BRCA gene patents for various reasons, including the determination that one of the patents wasn't "inventive" enough.

Taking that theme to its legal extreme, the ACLU is arguing that gene patents violate the Constitution, which otherwise allows "inventors" rights over their "discoveries." Because Myriad's patents cover naturally occurring genes and mutations-and even govern the act of looking at two genes and comparing differences-the lawsuit claims the U.S. patent office's policy is unconstitutional and restricts freedom of speech by permitting "the patenting of products of nature, natural phenomena, abstract ideas, and basic human knowledge and thought."

The University of Utah Research Foundation is owner or part owner of the BRCA patents. The foundation's directors are named as co-defendants in the suit, including Thomas N. Parks, the vice president for research at the university. Parks told me that technology developed at the University of Utah was the basis for Myriad's BRCA1 and BRCA2 licenses: "The university is contractually obligated under these licenses to permit Myriad to use them commercially."

Myriad declined to comment on the pending litigation. However, in a PBS documentary that aired last October, In the Family, Myriad co-founder Skolnick defended his company to the film's director Joanna Rudnick, herself a BRCA1 mutation carrier: "If we make this huge multi-tens-of-million-dollars investment in educating the market, don't we have a right to deliver the tests? The facts are that women are getting tested, and their lives are getting saved, and I guarantee you they would not be being tested if it weren't for Myriad. . . . We've taken every [technical] problem that comes up and solved it because we have a commercial interest."

When Rudnick asked why Myriad's BRCA sequencing test was still so expensive, Skolnick hesitated, then said, "That's a good question. And I think there's a point at which we have to start looking at decreasing the cost of the test."

Skolnick denied that patents affected the ability of scientists to conduct research, but a 2005 report by The National Academies, a premier science group in the United States, suggests otherwise. The report included a section on Myriad's patent history and concluded that some DNA-based patents might be stifling scientific discovery.

It encouraged owners of "gene-based diagnostic tests" to allow outside parties to validate test results. If such owners were uncooperative, the report encouraged Congress to take action to protect researchers conducting validation from patent infringement liability "in the interest of public health." (Subsequent congressional attempts at patent reform were unsuccessful. Current reform bills are now awaiting action in the U.S. House and Senate.)

Officially opposed to DNA patents since 1995, the Southern Baptist Convention issued a statement supporting the ACLU's position, albeit with a different premise. Richard Land, the president of the convention's Ethics & Religious Liberty Commission, told me that patenting animal or human body parts, tissues, or gene sequences is an attempt to wrest their ownership from God and commodify them: "It's sort of a high-tech biomedical slave auction."

Land said, "My response to those who would say, 'Well, we invented this'-is go get your own genes."