Every time a woman is tested for gene mutations linked to significantly higher rates of breast and ovarian cancer, her blood is sent to a lab in Utah.
That's because Salt Lake City-based Myriad Genetics Inc. owns the patents to the BRCA 1 and BRCA 2 mutations, giving it control over all research and testing done nationwide. The company charges thousands of dollars for each set of results.
The patents have become the subject of a legal fight that could soon head to the U.S. Supreme Court and have sparked a broader discussion about the fast-evolving field of genomics and so-called personalized medicine, in which treatments are tailored based on a patient's genetic makeup.
Scientists, lawyers and bioethicists say the outcome of the legal and ethical debate could impact research and patient care.
Civil libertarians and patent opponents object to companies claiming they have invented what nature has wrought and contend that such patents hinder life-saving research. Corporate patent owners say their scientific ingenuity is needed to isolate the genes and that research could stall without the protection of patents.
"If I want to look at the data in my genome from the computer in my basement or wherever, I should be able to or my doctor should be able to tell me," said Jeffrey Kahn, professor of bioethics and public policy at the Johns Hopkins University's Berman Institute of Bioethics. "But the standard argument is that if we don't respect patents, there will be less incentive to do research and development. There is a collision course coming."
The potential implications are staggering, given that what's at stake is control over basic biological units of heredity.
Corporations and scientists hold patents on 20 percent of the human genome and could limit what doctors study and share when it comes to protected gene sequences linked to Alzheimer's disease, Huntington's disease and colorectal cancer, among other illnesses. Patents give owners rights to the intellectual property for at least 17 to 20 years.
The BRCA 1 and BRCA 2 mutations are responsible for most hereditary ovarian and breast cancers. Many women with the mutations take extreme preventive measures, such as breast and ovary removal. While hereditary versions of the disease are a small percentage of total cases, the mutations increase breast cancer risk by 82 percent and ovarian cancer risk by 44 percent.
The American Civil Liberties Union originally brought a lawsuit against Myriad Genetics in 2009 on behalf of about 20 scientific organizations and patients, and a panel of the U.S. Court of Appeals for the Federal Circuit in Washington upheld the patents earlier this month — the second decision in the company's favor. The Supreme Court had asked the court to reconsider its initial ruling last year.
"No one is really enforcing their patents like Myriad, so this is really a landmark case," said Joann A. Boughman, executive vice president of the American Society of Human Genetics, which was not a plaintiff but which does not support gene patents. She also said that BRCA is "probably the poster child for gene mutations because everyone knows someone with breast cancer and has had the test."
The latest court ruling "creates confusion in the community out there about what can be done legally."
The ACLU argued that the mutations were naturally occurring, unlike manmade drugs, and therefore not patentable under U.S. law. Myriad countered that manmade processes were used to isolate the mutations.
At the time, Peter Meldrum, Myriad president and CEO, said in a statement he was pleased that "the court agreed with Myriad that isolated DNA is a new chemical matter with important utilities which can only exist as the product of human ingenuity."
The ACLU has not decided whether it will appeal, though that's widely expected. In the meantime, ACLU officials say there are important consequences.
"The most direct effect is they get to dictate the price of the tests," said Sandra Park, an ACLU attorney. The primary BRCA test costs $3,340, and a supplementary test is $700.
Others involved in research and patient care say the patenting could have far-reaching implications.
An advisory committee on gene patents raised the issue in a 2010 report to the secretary of the U.S. Department of Health and Human Services. It concluded that the patents would limit the development and availability of tests, limit access to testing if a patent provider does not accept a patient's insurance, and limit multigene testing, which has "the greatest potential future benefits."
The report by the Advisory Committee on Genetics, Health and Society found more than 50 public and private entities offer testing for cystic fibrosis and Huntington's disease but that most could be eliminated if patent holders enforce their rights.