Gene Patenting

Actress Angelina Jolie announced yesterday in the New York Times that she underwent a preventative double mastectomy after learning she carried a genetic mutation that greatly increased her risk of developing breast cancer.

The test Jolie’s doctors used to asses her risk, however, isn't feasible for most women. It is extremely costly because both the test and the individual genes that indicate a greater risk of breast and ovarian cancer—BRCA1 and BRCA2—are patented by the Utah-based biotech company Myriad Genetics.

In 2009, the Association for Molecular Pathology (AMP), the American Civil Liberties Union (ACLU), and patient advocacy groups brought a lawsuit against Myriad, saying that by giving a single company the exclusive right to test for mutations on the BRCA genes, the test has been made prohibitively expensive. They say patents discourage other companies and research labs from developing a faster, cheaper, and more sensitive test for these breast cancer gene mutations.

The case has been appealed all the way to the U.S. Supreme Court, which heard arguments from both sides on April 15.

Myriad says that about seven percent of breast cancer cases and 15 percent of ovarian cancer cases are caused by mutations on the BRCA1 or BRCA2 gene. According to Myriad, patients with BRCA mutations have "risks of up to 87 percent for breast cancer and up to 44 percent for ovarian cancer by age 70." Jolie’s doctors put her risk at 87 percent for breast cancer and 50 percent for ovarian cancer.

Women whose close relatives were diagnosed with breast or ovarian cancer before age 50 are often urged to undergo genetic testing for these mutations. Jolie’s mother, Marcheline Bertrand, died of breast cancer at age 56.

“It has got to be a priority to ensure that more women can access gene testing and lifesaving preventive treatment, whatever their means and background, wherever they live. The cost of testing for BRCA1 and BRCA2, at more than $3,000 in the United States, remains an obstacle for many women,” Jolie wrote. “I choose not to keep my story private because there are many women who do not know that they might be living under the shadow of cancer. It is my hope that they, too, will be able to get gene tested, and that if they have a high risk they, too, will know that they have strong options.”

The Pros and Cons of Gene Patenting

In order to make the genetic test more widely available, the AMP and ACLU say Myriad’s patents must be invalidated and that the company must give other labs and clinics access to their database of BRCA mutations so doctors have the information they need to assess each patient’s cancer risk.

Lawyer Christopher Hansen of the ACLU argued before the Supreme Court that nature, not Myriad, had invented the genes in question, though the company has found a novel way to use them. The justices seemed to agree, and Chief Justice John Roberts repeatedly asked Myriad attorney Gregory Castanias how the process of isolating the BRCA genes was any different from just “snipping” them out of an existing chromosome.

Opponents of gene patenting add that patenting a naturally occurring piece of human DNA is a slippery slope, as companies rush to patent (and price) genes for everything from eye color to cholesterol, and so restrict the ability of scientists to study them.

According to a news release from the ACLU, “The U.S. Patent and Trademark Office (PTO) has granted thousands of patents on human genes—in fact, about 20 percent of our genes are patented. A gene patent holder has the right to prevent anyone from studying, testing or even looking at a gene. As a result, scientific research and genetic testing has been delayed, limited or even shut down due to concerns about gene patents.”

Though the ACLU is seeking a ruling saying that all gene patents are invalid, the Supreme Court justices seem hesitant to make such a sweeping judgement, which would affect the agricultural and biotechnology industries for years to come.

Castanias’ argument is that the process of isolating a gene for testing requires human ingenuity, so the resulting isolated gene can be patented.

Proponents of gene patenting also say that private companies like Myriad are doing a vital public service through their medical research, and that they should be allowed to protect the product of techniques they’ve invested millions of dollars to develop.

The justices recognize the need to provide companies with incentives to conduct vital research, and court reporters predict that the judges will try to find a middle ground by ruling that genes themselves cannot be patented while allowing companies to patent the gene isolation process as well as synthetic DNA made in a lab, for example.

The Supreme Court will likely issue its ruling in late June of this year. The decision will affect the lives of thousands of American women like Jolie with a family history of cancer who are weighing the option to get tested. With all the information in hand, they can make important decisions about screening and preemptive treatments that could save their lives.

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