Breast cancer patients filed a lawsuit this week challenging the gene patents held by Myriad Genetics, which enable the company to license the only test available for the two breast cancer gene mutations. The lawsuit, organized by the American Civil Liberties Union, forces a judge to decide whether companies should be allowed to patent genes that occur naturally in the human body. "The patents granted to Myriad give the company the exclusive right to perform diagnostic tests on the BRCA1 and BRCA2 genes and to prevent any researcher from even looking at the genes without first getting permission from Myriad," states the press release issued by the ACLU. The organization contends that Myriad's right to these genes "hampers clinical diagnosis" and discourages research on the gene mutations.
"If the ACLU wins, it will be game changing in terms of how patents are granted for genetic testing," says Robert Cook-Deegan, director of the ethics, law, and policy program at Duke University's Institute of Genome Sciences and Policy. "I really have no feel for how the courts will handle this."
Genetic testing for the BRCA mutations allows women with a strong family history of breast cancer—diagnosis of the disease in two or more immediate family members—to make some important decisions if they turn out to be carriers. They can take steps to get early screenings with high-tech imaging tools like MRI. They might also opt to have prophylactic mastectomies, the surgical removal of healthy breasts, which has been shown to lower breast cancer risk by more than 90 percent.
The gene tests, which sequence a portion of a cell's DNA, are extremely complicated to perform, and there is room for error, says Cook-Deegan. But, he adds, no one knows whether women will benefit from having more companies doing the gene testing. Breast cancer patients quoted in news articles, like this one from the New York Times, say they would like to be able to have the option to have their test repeated by another lab if, say, the result comes back negative for a mutation even though several immediate family members have the disease. "One of the women who signed on to the lawsuit looks to me like she's probably a gene mutation carrier even though the Myriad test didn't find the sequencing for it," says Cook-Deegan, who isn't involved in the lawsuit but has reviewed the papers filed with the court. Since Myriad holds the exclusive patent to the two breast cancer genes, no other labs in this country are legally allowed to perform the gene tests—though Myriad now performs an additional test, called rearrangement, in addition to DNA sequencing if the first result is hard to determine.
The lawsuit plaintiffs are also contending that the price of the test, about $3,000, is far too high and would be lowered if more companies were allowed to offer the test. Two women involved in the lawsuit say they couldn't have the test because Myriad doesn't accept their insurance. (Myriad did not return a call seeking a comment.)
Whether these problems will be fixed by striking down the patents, though, remains unclear. "Where you stand depends upon where you sit," says Cook-Deegan. Lab directors at universities and advocacy groups like the ACLU say allowing other labs to do the testing will improve the reliability of the results. "It's certainly possible," Cook-Deegan says, "but it's not a slam dunk." No analyses have been done to show that genetic testing is more reliable when performed by many labs rather than just one. And he says what's needed most is proficiency testing, in which a lab sends samples out to be independently verified by other labs to confirm the accuracy of the results. To his knowledge, Myriad isn't doing that.
Cook-Deegan and his colleagues recently published a paper comparing genetic testing for breast cancer with testing for colon cancer (performed by Myriad and several other companies). What he found is that tests for the two diseases were about equally expensive, though the cost of breast cancer testing could drop with more companies competing to offer it. For the breast cancer test, Myriad has an advantage of having a centralized database holding all test results, which means it can offer free follow-up testing to close relatives who have an ambiguous result. But being the sole provider means that Myriad also has more incentive to advertise directly to women, educating them about the benefits of genetic testing, according to the paper. While this has increased awareness, the paper says, it can also lead to unnecessary testing in women who don't have breast cancer and aren't at increased risk.
Allowing more companies to perform the genetic test will certainly give women more options like going to a different lab to verify a questionable result. But more important, Cook-Deegan says, the lawsuit may prompt healthcare folks to have some real discussions to settle how genetic testing should move forward. "We really need some coherent policy here."