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Perspective

Who took my DNA?

In the genetics business, the truth is stranger than science fiction.

Illustration by Koren Shadmi

My family has been hard hit by hereditary cancer. Ovarian cancer claimed my mother’s mother, her aunt, and her first cousin, all in their 40s. Then my mother died of breast cancer at 59. Since learning my sisters and I are at high risk, I’ve anguished over whether (and when) to be tested for the mutation that may be responsible. Women with mutations in either BRCA1 or BRCA2 – genes we all have that usually act as tumor suppressors – face up to an 85 percent chance of developing breast cancer and a 50 percent chance of ovarian cancer. Back in the 1990s, rather than trust a diagnostic test still in its infancy, I chose preventative breast and ovarian removal surgeries to reduce my risk. Now, though, my daughters are young women, and the issue of testing is back. Don’t I owe it to them to learn whether I have the mutation? I’ve gone back and forth, but I’d always assumed I was in control of the decision. Until I learned I wasn’t.

When a colleague asked whether I’d heard about the BRCA lawsuit, I was baffled. What lawsuit? Like many people, I was unaware that Utah-based Myriad Genetics (with the University of Utah Research Foundation) has held patents on the BRCA genes since the late 1990s. Not just on the diagnostic tests, but on the DNA itself.

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How could I not have known? The BRCA test has preoccupied me for more than a decade. I’ve sought advice from doctors, debated its efficacy, and come close to scheduling it, only to then put it off. But despite my ambivalence, I’ve always talked about genetic testing in terms of choice, individual liberty, and empowerment.

It never occurred to me that a single company could establish the test’s price without competitors to check it. That without more than $3,000 or an insurance company’s help, I could be out of luck. That if my results were to come back ambiguous, I couldn’t be retested by another lab. And if I wanted a second opinion, I couldn’t get one, because by law Myriad is the only company that can offer BRCA testing in the United States (it had revenues of nearly $350 million on such tests last year).

The BRCA1 gene was discovered by a Berkeley research team led by geneticist Mary-Claire King in 1990. Over the next few years, scientists raced to sequence it. Myriad’s got there first. But did the company’s work in isolating and cloning the gene transform it from a “product of nature” (which can’t be patented) into an “isolated composition of matter” (which can)? The ACLU – together with about 150,000 patients, scientists, and medical ethicists – contends that the answer to this question is no.

In 2009, the ACLU filed suit against Myriad and the US Patent and Trademark Office, arguing that the company’s BRCA patents are invalid and unconstitutional. In 2010, a New York federal court decided in favor of the ACLU, but this July, that decision was overturned by the US Court of Appeals. “Cleaving” the gene from the body, that court found, renders it eligible for patent protection. The ACLU now intends to bring the case to the Supreme Court.

In the meantime, when I assure my daughters that researchers are learning more every day about hereditary cancers, I have to temper this claim with the knowledge that Myriad’s patents may be hampering research (the company has sent cease-and-desist letters to other labs). Won’t the BRCA patents just elapse eventually, a friend asked me? Eventually. But genetics is a young and fast-moving science, and some of Myriad’s patents won’t run out for almost a decade. That’s a long wait for people making difficult and time-sensitive choices – and for scientists outside the company eager to get down to work.

When it comes to genetic research, we need collaboration and competition. We need challenges and different points of view, debate and second opinions. Medicine is no place for a monopoly on knowledge – yet nearly 20 percent of human genes are controlled by patents.

This year, thousands of people will get tested by Myriad, learn their results, and make life-changing decisions based on what they discover. We should work to ensure they can do this in a climate that supports the free exchange of information and ideas.

The promise of personalized medicine offers much-needed hope as treatments get targeted to individual patients’ diseases. But personalized medicine should also value the rights of the person – all the way down to his or her genes.

Between the word “patent” and the word “patient,” there is just a single letter – “I.” We need to fight for that “I” before it gets erased.

Amy Boesky, an associate professor at Boston College, is the author of What We Have, a memoir about hereditary cancer. Send comments to magazine@globe.com.
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