Karen Joy Miller, of Huntington, is president and founder of...

Karen Joy Miller, of Huntington, is president and founder of Huntington Breast Cancer Action Coalition, founder of Prevention is the Cure and a breast cancer survivor who supports the lawsuit filed against Myriad Genetics. (April 10, 2013) Credit: Heather Walsh

Genes are multibillion-dollar molecules, many worth millions of times their weight in gold.

And the first big test of who can patent them comes to a head Monday when the U.S. Supreme Court hears oral arguments on whether a Utah company can own two genes linked to breast cancer.

The emotionally charged and highly controversial case is a major test of whether natural constituents of the human body can become the intellectual property of a corporation.

Monday's arguments grow out of a 2009 lawsuit filed in Manhattan by the American Civil Liberties Union and the Public Patent Foundation at the Benjamin N. Cardozo School of Law at Yeshiva University. They argued that Myriad Genetics Corp. in Salt Lake City wrongly claimed ownership of human genetic material, something the company couldn't have invented or have a right to own.

Critics say Myriad used the genes to develop a diagnostic test that costs $3,500 per patient -- and blocks competition by way of its patents for the high-risk cancer genes BRCA 1 and BRCA 2.

The company counters that patenting the genes allows for creative innovation. The 20-year patent is expected to expire in three years.

"This case is just the tip of the iceberg," said Dr. Christopher Mason of the Institute for Computational Biomedicine at Weill Cornell Medical College in Manhattan.


Patents on every gene

Mason, a leading genomics investigator, said the case has implications for countless other DNA patents because virtually every gene in the "Book of Life" -- DNA sequences that spell out a specific genetic phrase for everything from cancer to eye color -- has a corporate or academic institution's patent attached to it.

"I am extremely pro-patent," said Mason, a fellow in genomics, ethics and law at Yale Law School. "But I simply believe that people should not be able to patent a product of nature."

Richard Marsh, Myriad's general counsel, contends his company doesn't own the genes as they exist in the human body. What Myriad has patented, he said, is merely reference genetic material -- chemical sequences lacking human function.

"Our patent doesn't claim the gene sequence in the body. It claims an isolated molecule," Marsh told Newsday.

"We claim the use of a DNA sequence outside the physical body," he continued. "We create probes and primers that will zone in on a specific genetic mutation."

Marsh said Myriad poured intellectual as well as monetary capital into developing the technology that became the BRCA screening.

"We spent over $500 million to commercialize the genes and to teach the medical industry when to do testing," he said. "Today, BRCA testing is accessible and affordable and gives lifesaving information to individuals who are at risk.

"It is mind-boggling to me that, by and large, they don't understand the scope of our patent," he said of critics. "We don't own the genes and when people start to understand the facts, they will realize that Myriad is a good steward."

The original suit also named the University of Utah as a defendant because it was the site where many of the initial BRCA gene isolation studies were conducted. Additionally, the lawsuit named the U.S. Patent Office because it allowed Myriad to hold intellectual property rights to the BRCA genes.

Myriad's patents have forced patients to pay unnecessarily high screening costs, critics said. If other scientists were allowed to put similar tests on the market, prices inevitably would decline, they said.

In 2010, a judge struck down Myriad's hold on BRCA 1 and 2, and, in effect, quashed seven of the company's patents. An appeals court reversed that decision in 2011.

Monday's Supreme Court hearing is of particular interest on Long Island, where dozens of women contributed genetic material to the original BRCA gene studies in the 1990s, said Karen Joy Miller, executive director of the Huntington Breast Cancer Action Coalition.

Those investigations revealed that when healthy, BRCA 1 and 2 prevent cancer. When mutated, they carry codes for breast and ovarian cancers that are passed from one generation to the next. BRCA 2 is also responsible for hereditary breast cancer in men.

BRCA mutations account for 5 percent to 10 percent of all breast cancer cases in the United States.

Despite women donating genetic material to science, benefits have not circled back to patients over the years in the form of lower screening costs and updated tests, activists say.

Women use results from the Myriad-developed exam to sometimes make life-altering decisions, such as choosing to undergo prophylactic mastectomy or hysterectomy to prevent breast and ovarian cancers that might develop in the future.

"Everybody has these genes. Everybody. How can a company claim ownership of something they never created?" Miller asked, referring to human DNA. "Companies shouldn't be able to own us like this.

"This is an example of industry owning a part of our bodies so they can control the pricing of a test."

Miller has thrown her group's support behind sister organization Breast Cancer Action in San Francisco, which has been fighting since 2009 what it calls Myriad's monopoly on BRCA 1 and 2. Breast Cancer Action has filed a Supreme Court brief and organized a rally Monday on the Supreme Court Building steps.


'A barrier to research'

Karuna Jaggar, executive director of the California organization, said Myriad's screening is based on mid-1990s scientific genetic information. And the test is slower because it uses outdated methodology, she added.

Because Myriad's patent blocks other scientists from developing screenings that are more robust, patients are not being adequately diagnosed, Jaggar said.

"It's our bodies; it's our genetic material -- our DNA, and Myriad's monopoly is posing a barrier to research," she said. "So this matters to anybody who is concerned about the corporate ownership of human genetic material."

Jaggar's key concern is that Myriad's test doesn't detect many of the hundreds of mutations that can occur in BRCA genes, and therefore produces ambiguous test results for scores of patients. "Disproportionately women of color are more likely to receive these ambiguous results," she said.

Minorities were only minimally represented in the original BRCA 1 and 2 clinical trials and are likely to have mutations in segments of the genes that are not included in the Myriad test, experts say.

Myriad's patents on the genes and the legal constraints that bar other researchers from creating competing tests have made breast cancer research difficult, said Dr. Daniel Budman, director of hematology and oncology for the North Shore-Long Island Jewish Health System.

In addition, Budman said, many patients at the Monter Cancer Center in Lake Success have been unable to pay the test's cost.

"It's frustrating when you have patients who are not insured or fully insured," Budman said. "Testing can be quite a barrier because of the cost. But it's not just Myriad, it's genetic testing in general."

Stakes are high on both sides of the intellectual property fight, medical ethicists and gene policy experts say.

"If the Supreme Court upholds the current scope of the [BRCA] patents, no physician or researcher will be able to study the DNA of these genes from their patients," Mason said.

He also said no competing diagnostic tests will emerge because of potential patent infringement.


The race to file patents

Last month, Mason and research colleague Dr. Jeffrey Rosenfeld of the University of Medicine and Dentistry of New Jersey found that virtually every major human gene is owned by a pharmaceutical company or academic institution. Patenting has been going on for years and has a deep and storied past.

The race to claim genes is comparable to the California land and gold rushes of the 19th century, Mason said -- everyone wants a part of it. The difference, in an era of personalized medicine, when treatments and diagnostics can be based on DNA, is that everyone is chasing what they hope is the next multibillion-dollar molecule, he said.

"I am really hopeful this will be a wake-up call for the public and Congress," Mason said. "I really hope there will be some kind of reform.

"I also believe that individuals have an innate right to their own genome and to allow their doctor to look at that genome, just like looking at the lungs or kidneys," he said. "Failure to resolve these ambiguities perpetuates a direct threat to genomic liberty -- the right to one's own DNA."

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