By Susan Elan
Thursday, December 10, 2009
Patients and scientists are heading to federal court to challenge a company's right to a monopoly on diagnostic tests for genes linked to hereditary breast and ovarian cancer. The case could have profound consequences for genetic research in general.
(WOMENSENEWS)--At age 36, after a diagnosis of breast cancer, Genae Girard had a double mastectomy.
At 39, the Austin, Texas, businesswoman had to decide whether to have her ovaries removed or run the risk of ovarian cancer.
Genetic testing had indicated that Girard carried mutations on two genes known as BRCA1 and BRCA2, placing her at a significantly higher risk of developing hereditary breast and ovarian cancers.
"I wanted validation (of the test) but I couldn't get a second opinion," Girard told Women's eNews.
Myriad Genetics, a company based in Salt Lake City, holds patents that prohibit anyone else from developing alternative diagnostic tests for the BRCA genes. Until the patents expire in 2014 and 2015, its laboratory is the only place in the country where diagnostic testing for the BRCA genes can be performed.
"It doesn't make sense that a company could patent a part of the body," said Girard, a plaintiff in a lawsuit charging that patents on the two genes associated with breast and ovarian cancer are unconstitutional and invalid.
To give herself the best chance of survival, Girard had her ovaries removed in the summer of 2009. But a nagging question remains.
"What if I made the wrong decision?" said Girard, who has no children. "It's hugely important for women to have all the tools they need to make decisions."
Other patients, women's health groups, medical professionals and four organizations representing 150,000 medical and laboratory professionals joined Girard in a lawsuit filed in May 2009 by the American Civil Liberties Union, or ACLU, and the Public Patent Foundation, a nonprofit affiliated with New York's Benjamin N. Cardozo School of Law.
A hearing is scheduled for Jan. 21 in U.S. District Court for the Southern District of New York.
Myriad's Executive Vice President Richard Marsh defended the company's patents in a written response to Women's eNews.
"Myriad spent 15 years developing the market before it recouped its time, effort and capital expenditures," he said. "Through Myriad's efforts, there has been tremendous patient education, development and access to a vital hereditary cancer predisposition syndrome testing."
Myriad and the two other defendants in the case, the U.S. Patent and Trademark Office and the University of Utah Research Foundation, asked the court to dismiss the lawsuit.
But a Nov. 2 federal district court ruling allowed it to proceed.
The case could go all the way to the U.S. Supreme Court, with far-reaching implications for patents on genes associated with asthma, colon cancer, Alzheimer's disease and many other illnesses.
About 20 percent of all genes in the human genome are patented, giving owners of the patents property rights over gene sequences. This could allow patent owners to have exclusive rights to perform diagnostic tests, determine whether a new drug could be an effective treatment or to insert a gene that supplies a healthy protein to cure a disease.
Genes associated with health and diseases are patented more often than others, according to an October 2005 report in the academic research journal Science.
Professor David H. Ledbetter, director of the division of medical genetics at Emory University in Atlanta and a plaintiff in the lawsuit, said gene patents create monopolies that deprive patients such as Girard of a second opinion in the form of an alternative diagnostic test and testing laboratory. They also jeopardize quality control and remove incentives to improve testing.
"There is no way to ensure the highest quality test performance when a single laboratory performs all genetic testing for a disease," said Ledbetter, who heads Emory's genetic testing laboratories, which provide more than 28,000 tests a year to patients and families with genetic diseases.
In the last three years, Emory's molecular genetics laboratory has developed new gene sequencing tests for more than 200 rare genetic diseases, many of which were previously unavailable as clinical tests.
The cost of developing alternative diagnostic tests for the BRCA genes would be "relatively trivial," probably not exceeding several tens of thousands of dollars, Ledbetter estimated.
But the genetic diagnostics program Ledbetter heads at Emory can only invest in research for new tests when no gene patent or exclusive licensing agreement creates a monopoly. Ledbetter said he would conduct research to develop an alternative diagnostic test if Myriad's BRCA genes patents were invalidated.
"We would shift our research and development priorities to improve test performance and look for ways to make tests that are more cost effective, while offering as good or better services than any currently available," he said.
Instead, Ledbetter's group spends time and energy fundraising to pay for BRCA tests for women who come to Emory but do not have insurance coverage or the $3,500 that Myriad charges per test.
Ledbetter said about $50,000 a year in grant money raised by his organization goes to the for-profit Myriad "to help pay for the critically necessary tests" that his laboratory is blocked from developing.
What makes patents that limit access to testing even more questionable, Ledbetter says, is the fact that research conducted on the BRCA genes at the University of Utah was federally funded.
As the exclusive provider of the test in the United States, Myriad can decide the price of its test and which insurance companies to contract with, said Sandra Park, staff attorney with the ACLU Women's Rights Project.
Marsh said about 90 percent of Myriad's BRCA testing is "covered by some form of insurance." The average reimbursement is approximately 90 percent of test cost, he said.
Myriad offers free testing to uninsured patients who meet specific medical and financial criteria. The financial criteria are based on federal poverty guidelines, which indicate that a single person must earn $16,245 or less a year, while a family of four can earn no more than $33,075 a year.
"A substantial number of tests are run for free by Myriad under this program," Marsh said.
As the lawsuit makes its way through the courts, Girard is urging everyone to speak up about the gene patenting issue.
"A lot of other genes are patented, which will affect many other people," she said. "It's time for everyone to make their voice heard because this can impact them in the very near future."
Susan Elan covered politics at daily newspapers in the New York metropolitan area for more than a decade. She has also worked as a reporter for an English-language radio station in Paris.
The American Civil Liberties Union