image

On June 13, the Supreme Court ruled on gene patenting.

“We hold that a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” reads the opinion. The ruling describes how Myriad Genetics, Inc. “discovered the precise location and sequence of two human genes, mutations of which can substantially increase the risks of breast and ovarian cancer. Myriad obtained a number of patents based upon its discovery.” The court opinion reads like a biology textbook describing the science of DNA technology in detail. The human impact, however, is not addressed; that case could have a dramatic impact on the development, cost, and availability of genetic tests.

Since 1997, when Myriad Genetics was first granted a patent on testing for mutations in the breast cancer genes, that company was able to charge patients thousands of dollars for testing, and it also was able to block other companies from developing and offering genetic screening at competitive rates. The recent court ruling will permit other companies to develop tests for BRCA mutations and offer the tests at lower cost.

This has important implications for Ashkenazi Jews, who carry mutations in the BRCA genes at significantly higher rates than found in the general population. The incidence of BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population is 1 in 40. Women who inherit those BRCA1 or BRCA2 mutations may face a lifetime risk of 60 percent for developing breast cancer and 40 percent for developing ovarian cancer. Men who carry those mutant genes also have increased risks of breast, prostate, and skin cancer. When people test positive for those cancer genes, it is possible for them to practice more vigilant screening and surveillance to detect cancer at early stages, as well as to reduce the risk of cancer through lifestyle changes. That is why testing for those mutations can be lifesaving.

“The court’s decision has far reaching implication for any developments in genetics and genomics. It shot down [the idea] that a single entity can control genes,” Rochelle Shoretz said. Shoretz is the founder and executive director of Sharsheret, a national organization whose mission, according to its website, is to support “young Jewish women and their families facing breast cancer.” Shoretz is well qualified to comment on Supreme Court decisions – she is an attorney who clerked for Supreme Court Associate Justice Ruth Bader Ginsburg.

“There are tremendous implications for women and men who want to seek information on genetic counseling and genetic testing,” she said. “I think companies with interest in genetics and genomics will feel a little bolder in investing in the field, knowing that they won’t necessarily be precluded by exclusive gene patents.”

Thanks to the Supreme Court ruling, naturally occurring DNA sequences cannot be patented, ensuring that they are freely available for research. However, companies that wish to compete with Myriad Genetics in the development of new tests for BRCA1 and BRCA2 mutations still may encounter roadblocks, because the Supreme Court also decided that synthetic DNA may be patentable. In particular, the justices noted that complementary or cDNA, which is made by copying the naturally occurring messenger RNA found in cells, “is patent eligible because it is not naturally occurring.” Current tests developed by Myriad use cDNA technology, so those aspects of the company’s patents would continue to be enforced. This gives biotechnology companies like Myriad the opportunity to maintain their current approaches, and to develop new approaches to testing that could not be usurped by competitors. It presents a challenge to new companies that intend to develop tests, because they will not be able to use the cDNA sequences that Myriad has already patented.

Although there are challenges, the court’s decision still opens up possibilities for competition in the field. “Each lab will be doing it a little differently,” said Danielle Singer, Sharsheret’s genetic counselor. “Myriad holds patents on cDNA, but there are ways of getting around that. There are ways of testing without cDNA.”

The prospect of more companies providing BRCA gene testing “is coming into play now,” she said. “On the [genetic counseling] listserv people are messaging, asking where to have the testing done. When considering where to order testing it’s important to consider price, access to the test, insurance coverage, turn-around time, and whether the test itself has been validated.”

There are many hurdles to clear to develop and market new genetic tests. There are issues of validity for new genetic tests, and Singer explained that laboratories that develop genetic testing must go through a process to pass federal standards. The Centers for Medicare and Medicaid Services review laboratory tests through a process called Clinical Laboratory Improvement Amendments, which ensures “quality laboratory testing” (www.cms.gov). In order to validate tests they review how tests are conducted, the quality control measures that are used, and the tests’ accuracy, as prescribed by federal standards.

And that is not the only challenge that new companies entering the market must face.

“Myriad does not have exclusive tests anymore,” Singer said. “On the other hand, Myriad has the data.” She said that through its patent-protected testing over the last 15 years, Myriad has collected enormous quantities of data on the BRCA1 and BRCA2 genes. “They have information on variants,” Singer said. “And other companies don’t have access to that data.”

Singer said that several mutations of BRCA1 and BRCA2 have been well studied, and published data linking those mutations to increased risk for cancer is available to anyone who wants to study those mutations. But in the course of years of genetic testing, Myriad Genetics also has collected data on other BRCA genetic changes, called gene variants. When variants are found, “They don’t know if it’s disease causing or benign,” she said. “Variants of uncertain significance are changes in the gene, but it is unsure if they are disease causing.”

By analyzing the family medical histories of people with specific variants, Myriad Genetics has learned about the variants and can reclassify those genetic changes to be able to predict cancer risks in some patients.

“Other companies don’t have that data. Myriad hasn’t been sharing it since 2006. What will happen now?” Singer asked.

She reported that there is a movement underway to collect and analyze information associated with BRCA1 and BRCA2 variants. “They are calling on women who had the testing to share their research results,” she said. A project called CLINVAR, sponsored by the National Center for Biotechnology Medicine, is collecting data on gene variants as they relate to health and medical conditions. By centralizing this data, the NCBM hopes to develop a database that can predict what gene variants are associated with increased cancer risk.

Singer, 26, lives in Manhattan and works full-time as a genetic counselor in Sharsheret’s Teaneck office. “People call in to Sharsheret with genetics questions,” she said. “Some have never seen a genetic counselor before, and some have been to genetic counseling but have to decide what to share with family members and what to do with the information.” She says that if someone has a question about his or her family’s genetic medical history, “I recommend sitting down with a genetic counselor and having that conversation.”

Sharsheret’s program is free. For information, call 866-474-2774.