Supreme Court Limits Ability to Patent Genes in Landmark Decision

After years of varying decisions by lower courts regarding the patents held on a test for genetic mutations associated with breast cancer, the US Supreme Court has ruled that a segment of DNA in isolation is a natural product and not eligible for patent protection.

However, some of the patents held by the company on the defensive end of the case will still be eligible for legal protection because they involve composite DNA (cDNA), and the court ruled that the development of those products requires a great degree of human intervention.

The decision brings a close to the case of Association for Molecular Pathology v Myriad Genetics, Inc, and officially overturns some previous decisions by lower-level courts ruling in favor of the patent protection. However, this decision may not have any immediate effects on the availability of the current test, or the ability of other manufacturers to bring similar tests to market.

At the center of this ruling is the BRACAnalysis test manufactured by Salt Lake City, Utah-based Myriad Genetics, a molecular diagnostic company that holds the patents on the BRCA1 and BRCA2 genes, both of which are closely associated with a greater risk of development of breast and ovarian cancer. Since Myriad secured the patent on the two genes, all testing for the genes has had to be done with the company’s test, estimated to cost approximately $3340 before any insurance coverage. It’s the same test that recently determined that actress Angelina Jolie had mutations in the BRCA1 gene.

In the Supreme Court’s decision, the justices stated that “Myriad did not create or alter either the genetic information encoded in the BRCA1 or BRCA2 genes or the genetic structure of the DNA,” and that extensive effort alone in the discovery of those genes is insufficient to meet patent eligibility. With regard to cDNA, the court stated that it is not a product of nature and is eligible for patent protection because “its creation results in an exons-only molecule, which is not naturally occurring” and “the lab technician unquestionably creates something new when introns are removed from a DNA sequence to make cDNA.”

The case did not involve any method claims or patents on any new applications of the knowledge about the BRCA1 and BRCA2 genes, according to a statement from Justice Clarence Thomas on behalf of the court.

In a press briefing held after the decision was announced, representatives for the plaintiffs in the case expressed their approval of the decision.

The Association of Molecular Pathology (AMP) said in a statement that the organization was “very pleased” with the highest court’s decision. When the AMP filed its original lawsuit, the organization expressed concerns that patents on genes could lead to monopolies and allow companies to restrict access to databases containing genetic information acquired through tests like BRACAnalysis, thus preventing the medical community at large from using any of that information.

“The Court’s decision that human genes are not patentable is a great step forward for the field of molecular pathology, for genomic science, and most important for our patients,” the organization said in a statement posted on its website. “We look forward to exciting future advancements in diagnostic testing and therapeutics that will accrue to the benefit of our patients and our field.”

Roger D. Klein, MD, JD

Roger D. Klein, MD, JD, chair of the Professional Relations Committee for the AMP and a pathologist in the department of Molecular Pathology at the Cleveland Clinic, said that cDNA “really is not crucial for the performance of this work” and considered the decision a “major victory.”

Sandra Park, senior staff attorney with the American Civil Liberties Union Women's Rights Project and a co-counsel on the case, explained that the BRACAnalysis test is unable to detect mutations in very large rearrangements of DNA, and this is something that hopefully can be achieved now that research laboratories are free to test for BRCA1 and BRCA2 in addition to other mutations all at once.

However, a statement from Myriad Genetics contends that the company is also pleased with the court’s decision, noting that after the opinion was rendered, “Myriad has more than 500 valid and enforceable claims in 24 different patents conferring strong patent protection for its BRACAnalysis test.”

Peter D. Meldrum

“We believe the Court appropriately upheld our claims on cDNA, and underscored the patent eligibility of our method claims, ensuring strong intellectual property protection for our BRACAnalysis test moving forward,” said Peter D. Meldrum, president and CEO of Myriad, in a statement. “More than 250,000 patients rely upon our BRACAnalysis test annually, and we remain focused on saving and improving peoples’ lives and lowering overall healthcare costs.”

Myriad’s patent on the BRCA1 and BRCA2 genes was set to expire in 2015. The company stated that the test is widely reimbursed by private insurance companies, Medicare, and Medicaid, and the company provides patient assistance programs, in which more than 35,000 at-risk patients have participated to date.

“We are committed to advancing scientific knowledge even further, and Myriad will continue to encourage and support academic research studies conducted on the BRCA genes,” Meldrum said. “While we are confident that Myriad offers the highest quality genetic tests in the world, we also support patients’ rights to seek second-opinion tests from any of the many laboratories conducting BRCA testing for the purpose of confirming the Myriad test result.”

The effects of this decision could be quite far-reaching. The US Patent and Trademark Office has been awarding patents on genes for approximately 30 years, and according to a study published earlier this year in the journal Genome Medicine, 41% of the genes that have been identified in the human genome are under patent protection.

Thomas J. Engellenner

“This decision effectively throws 20 years of patent-office practice out of the window,” said Thomas J. Engellenner, a partner attorney at Pepper Hamilton LLP in Boston, Massachusetts, who specializes in intellectual property law and biosciences and who was not involved in this case.

Engellenner said that cDNA is necessary to design these tests, and without designing the cDNA to be like the original isolated strand of DNA, the tests won’t work. While other companies are now free to develop tests for BRCA1 and BRCA2 mutations, they must devise another method of developing cDNA in order to make the test work, and that could take several years of research. In that sense, Myriad still has many years of experience than anyone else who may decide to develop a test.

“It took a long time for Myriad to develop this test,” Engellenner said.

However, Engellenner noted that the court’s decision will make it much easier to test for a wide panel of mutations, since each one will not have its own patent. That will be meaningful, he said, since whole-genome sequencing is an emerging trend in medicine.

As far as existing patents, Engellenner said that those will have to be addressed on a case-by-case basis.