Who Owns Your Genes?

This article appeared in Self Magazine's October issue. My interview and involvement in this case is purely based on my own personal opinions and not any organizations I am connect with.


Who Owns Your Genes?

It's not you. And that matters.

By Ginny Graves

In November 2005, Runi Limary, a sixth-grade teacher in Austin, Texas, was diagnosed with invasive cancer in her right breast. "I was only 28, and I was in total shock and disbelief," she recalls. "I kept thinking the pathologist had made a mistake, that there was no way this was actually happening to me." Because she was so young, she wondered whether she had inherited a mutation of the BRCA 1 or 2 gene, which would significantly increase her risk of developing a second breast cancer as well as ovarian cancer. "I'd already decided to have my right breast removed, but if I carried the BRCA mutation, I wanted to have a prophylactic mastectomy on the left breast," she says. But her insurance wouldn't pay for the $3,000 gene test, so she opted to wait and see what happened.

Then in 2007, Limary switched jobs, and her new provider covered 80 percent of the BRCA test. "I was tired of worrying about every itch in my left breast," she says, so she ponied up her share for the blood test, and her sample was sent off to Myriad Genetics in Salt Lake City for assessment. The lab report revealed Limary had an unusual variation in the BRCA 1 gene, but Myriad couldn't determine whether it was a dangerous mutation or a benign, uncommon one. "When I got the results, I felt numb," Limary recalls. "I still didn't have any answers—just more questions." Understandably, she wanted another lab to run her blood work to get a second opinion. That's when she learned that Myriad is the only company that offers the BRCA test because it owns patents on the genes. "I was dumbfounded," Limary says. "I understand that companies take out patents on things they create, but it seemed really weird that they could patent something in my body—and everyone else's."

The United States government first granted patents on genes about 30 years ago to scientists who were able to "blueprint" the structure of a specific gene. Today, patents are attached to parts of about 20 percent of all human genes, including some that play a role in colon cancer and certain skin cancers. They last 20 years and are held by various private companies, foundations and universities, giving them the sole power to develop, administer and interpret tests for mutations. Many gene-patent holders don't fully reserve those rights for themselves; Myriad, however, is more restrictive. It doesn't stop outside researchers from studying the BRCA 1 and 2 genes for mutations, but they can't tell study subjects what they find. Moreover, four years ago, Myriad stopped sharing information with the Breast Cancer Information Core, an online breast cancer—mutation database sponsored by the National Institutes of Health. Without access to all of Myriad's data, scientists studying BRCA gene variants (like Limary's) outside the company can't fully interpret the results of their own research.

Myriad's monopoly on BRCA has also prevented genetics counselors and other clinicians from giving patients valuable information about their genes that Myriad couldn't yet provide. In 2006, researchers at the University of Washington at Seattle showed that Myriad's BRCA analysis was missing about 12 percent of mutations in breast cancer patients with a strong family history of the disease. "We could test for the missing mutations at our lab, so I contacted Myriad and told them we'd like to offer that to patients," says Ellen Matloff, director of Cancer Genetic Counseling at Yale Cancer Center in New Haven, Connecticut. "They said no, that they were going to offer the test once they'd completed their research. More than a year passed before they started offering it, now called the BRAC Analysis Rearrangement Test [BART]. We had to sit here that whole time knowing some patients had mutations that were being missed.”

Even today, Matloff says, Myriad's criteria for who should receive BART testing are too narrow: The company performs the test automatically and for free for people with breast or ovarian cancer who also meet other requirements, such as a strong family history of breast or ovarian cancer; patients who don't fit the bill often must cover the $700 cost out of pocket. But a study from Massachusetts General Hospital Cancer Center in Boston found that, of five individuals with mutations identified using BART technology, only one clearly fulfilled the Myriad criteria for free BART testing.

“I believe everyone who's getting BRCA testing also needs BART—it should be a standard part of the test," Matloff says. Myriad officials have said they're considering this possibility, but it's uncertain when it might happen.

Frustrated, Matloff joined the American Civil Liberties Union (ACLU) in a lawsuit against Myriad, along with 18 other plaintiffs, including patients like Limary, organizations like the American College of Medical Genetics and individual researchers. They argued that genes are products of nature and, as a result, can't be patented. This March, a federal judge agreed and ruled in their favor.

Myriad is appealing, but for now, any lab is theoretically free to offer BRCA testing. They could, however, be sued for patent infringement if the ruling is overturned—as Myriad and some patent lawyers believe it will be. "The patent system works," asserts Richard Marsh, executive vice president and general counsel for Myriad. "It takes substantial time and effort to do the research and development needed to bring genetic tests to market and to convince insurance companies to cover the tests. We spent more than $200 million on the BRCA test. Who would be willing to do that without a patent to ensure they'd eventually make a profit?"

And there is profit to be made, considering the BRCA test now runs $3,340. To be fair, all cancer gene tests are expensive, says Robert Cook-Deegan, M.D., research professor at the Duke University Institute for Genome Sciences & Policy in Durham, North Carolina. "There's also no consistent data showing that gene-patent monopolies affect test quality," he says. His issue with Myriad is its restrictiveness. "When you own the patent, you own the problem—it's your problem to make sure patients get access to your tests and research."

Limary decided to tackle her problem her own way. In 2008, she had a second, prophylactic mastectomy, and she plans to have her ovaries removed by the time she's 40. "I'm 33 now. I'm not eager to go into menopause, and I'd really like to have a baby someday," Limary says. "But unless Myriad's or someone else's research can shed light on my BRCA test results, I'll definitely have my ovaries removed. My health is largely in Myriad's hands—it feels really unfair to be in this position."

Myriad's patents on the BRCA genes won't expire until 2015, and it may be years before the gene-patent issue is legally resolved. "It could go all the way to the Supreme Court," says Wendy Chung, M.D., director of clinical genetics at Columbia University Medical Center in New York City and a plaintiff in the ACLU suit. She hopes dissolving Myriad's claims to the BRCA genes will allow her both to test her patients and to access Myriad's database to inform her own research on molecular genetics. "If the judge's decision is ultimately upheld," Dr. Chung says, "it will have a huge, positive impact on genetic testing and women's health."