In a unanimous decision, the U.S. Supreme Court ruled human genes cannot be patented -- but certain types of genetic tests may be -- while striking down the patents held by Myriad Genetics, a company that isolated two genes linked to higher risks of breast and ovarian cancer.
The ruling came down on Thursday, and it is expected to increase access to the tests while bringing down the costs by allowing other laboratories to develop and offer their own tests on the open market. In fact, Houston-based Gene By Gene, Ltd. promised to offer its own gene test for less than a third of the current price just hours after the ruling, setting their cost at $995.
The average American woman has a 12 to 13 percent risk of developing breast cancer, but women with certain genetic mutations may face a breast cancer risk raging between 50 and 80 percent as well as a 20-50 percent risk of ovarian cancer.
Myriad Genetics obtained several patents after discovering the precise location and DNA sequence of two gene mutations known as BRCA1 and BRCA2. Those two genes are believed to be the cause of 5-10 percent of breast cancer cases.
The company then developed medical tests costing between $3,000 and $4,000 to detect the genes to assess cancer risks, but insurers often only cover women thought to be at high risk due to family history or other risk factors. The patents held by Myriad Genetics also granted the company the exclusive right to isolate the genes and synthetically create BRCA-related DNA.
Myriad Genetics contended that its patents would be infringed if others isolated or manipulated BRCA DNA, but the Supreme Court's opinion pointed out that the company was not the only entity offering testing after the genes were discovered. The University of Pennsylvania's Genetic Diagnostic Laboratory, among others, were offering such services to women.
After Myriad Genetics learned of the testing conducted by GDL, it sent letters asserting that its patents had been infringed and the testing stopped at other locations, solidifying the company's position as the only provider of BRCA tests.
A few years passed before medical patients, advocacy groups, doctors and petitioner Dr. Harry Ostrer filed a lawsuit to declare the patents invalid. The Association for Molecular Pathology asked the courts to revoke the patents held by Myriad Genetics under the legal limitation established on Sept. 16, 2011, which declares that no patent may be issued on a claim directed to or encompassing a human organism.
Originally, the District Court granted summary judgment in favor of the petitioners because the patents covered products of nature; however, the decision was reversed and remanded in light of a previous case, Mayo Collaborative Services v. Prometheus Laboratories, which found isolated DNA and cDNA were eligible for patenting.
PATENTING NATURAL ELEMENTS
The U.S. Supreme Court holds that a naturally occurring DNA segment is a product of nature and therefore is not eligible to be patented simply because it has been isolated. That said, the court also found that cDNA --complimentary DNA which has been synthesized -- can be patented because it is not naturally occurring.
The Patent Act permits issuance to those who invent or discover any new and useful "composition of matter," but it specifically exempts "laws of nature, natural phenomena, and abstract ideas" as basic tools of scientific and technological work which are outside the scope of patent protection.
The nation's highest court ruled that Myriad Genetics' claim to the BRCA1 and BRCA2 discovery fell within the nature exception because the company did not create or alter the genetic information it discovered.
Yet, cDNA does not present the same obstacle as it is not a product of nature and its creation results in a molecule that is not naturally-occurring. While the order of the molecule may be dictated by nature, the court found lab technicians unquestionably created something new through cDNA.
OPINION OF THE COURT
Justice Clarence Thomas delivered the opinion of the court, and he was joined by Chief Justice John Roberts as well as Justices Anthony Kennedy, Ruth Bader Ginsberg, Samuel Alito, Sonya Sotomayor and Elena Kagan. Justice Antonin Scalia joined in part, but he also penned a concurring opinion.
While the opinion acknowledged Myriad Genetics' discovery of the BRCA1 and BRCA2 genes as a "medial breakthrough," Thomas argued that scientists already knew heredity played a role in cancer risks.
The opinion explained that attempting to patent a naturally occurring thing presents considerable danger of tying up scientific tools and thereby inhibiting future innovations, thus contradicting the purpose of a patent, which is to promote creation.
Furthermore, the court found that the petitioners showed substantial controversy between parties having adverse legal interests to declare judgment.
Some genetic tests look for mutations in 16 genes less-commonly involved in breast cancer, but Myriad Genetics' patents excluded BRCA1 and BRCA2 from those screenings. Now, those genes will likely be included in such tests for little or no additional cost.
Advocates believe broader tests could give women a more complete portrait of their overall health risks, and a new diversity of testing options is expected to bring down costs for patients.