Our Genes Are Getting Constricted

Things are tightening in the area of gene patenting. The number of patents applied for keeps increasing - just look at the Google Patent search for gene sequencing. Currently over three million genome-related patent applications have been filed. U.S. patent applications are confidential until a patent is issued, so determining which sequences are the subject of patent applications is impossible. Those who use sequences from public databases today risk facing a future injunction if those sequences turn out to be patented by a private company on the basis of previously filed patent applications.

The patentability of inventions under is determined by the Patent and Trademark Office in the Department of Commerce. A patent application is judged on four criteria. The invention must be "useful" in a practical sense (the inventor must identify some useful purpose for it), "novel" (i.e., not known or used before the filing), and "nonobvious" (i.e., not an improvement easily made by someone trained in the relevant area). The invention also must be described in sufficient detail to enable one skilled in the field to use it for the stated purpose (sometimes called the "enablement" criterion).

In general, raw products of nature are not patentable. DNA products usually only become patentable when they have been isolated, purified, or modified to produce a unique form not found in nature. When a biotechnology patent involving an altered product of nature is issued, the patent holder is required to deposit a sample of the new invention into one of the 26 worldwide culture depositories. In terms of genetics, inventors must:

(1) identify novel genetic sequences,
(2) specify the sequence's product,
(3) specify how the product functions in nature --ie, its use
(4) enable one skilled in the field to use the sequence for its stated purpose

It's possible that patents on genetic sequences could impede the development of diagnostics and therapeutics by third parties because of the costs associated with using patented research data. But panels, including the National Research Council, so far have found no evidence that gene patents result in significant impediments to overall research or medical care. But the report also included a section on Myriad Genetics's patent history and concluded that some DNA-based patents might possibly be stifling scientific discovery.

The New York Times reported the story of Genae Girard, 39, diagnosed with breast cancer in 2006 and subsequently having her BRCA genes tested by Myriad Genetics. 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 couldn't get one: Her BRCA genes have been patented, and Myriad holds an exclusive right to test them. Genae has filed a lawsuit against Myriad and the Patent Office, challenging the decision to grant a patent on a gene to Myriad and companies like it. She was joined by four other cancer patients, by professional organizations of pathologists with more than 100,000 members and by several individual pathologists and genetic researchers. The suit blends breast cancer activism, patent law, medical science, and a civil liberties argument in ways that might make it a landmark case.

Joining Ms. Girard in the lawsuit is Lisbeth Ceriani. When she 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 (in particular her BRCA1 and BRCA2 genes, telltale markers for cancer susceptibility). But Myriad Genetics wouldn't accept her Medicaid insurance. At around $3,000, the test was too expensive for Ceriani to pay up front.

Organized by the American Civil Liberties Union, the suit names as defendants Myriad Genetics and the U.S. Patent and Trademark Office. 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.

The plaintiffs argue that gene patents actually restrict the practice of medicine and new research. “With a sole provider, there’s mediocrity,” said Wendy K. Chung, the director of clinical genetics at Columbia University and a plaintiff in the case.

Jan Nowak, president of the Association for Molecular Pathology and also a plaintiff in the case, said, "You can't patent my DNA, any more than you can patent my right arm, or patent my blood." 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."

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 claims 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," Parks said.

As this case moves forward it will be interesting to see how the development of gene sequencing technology, bioethical issues surrounding genetics and the legal ramifications of genetic patents merge. Some argue that Congress should leave it up to the courts to dynamically interpret patent law on a contextual basis, rather than trying to tailor the statutes themselves. I am sure that this case and subsequent possible action by Congress will have far reaching ramifications.