Actress Angelina Jolie recently spent around $3200 to take one of Myriad Genetics’ many breast cancer screening tests. When the test revealed that a mutation existed somewhere in a sequence of 81,000 nucleotides found on her seventeenth chromosome, Jolie made an aggressive decision. She opted for a double mastectomy to remove the entirety of her breast tissue. In doing so, she drastically reduced the 50-80% chance that women with mutations in the BRCA1/BRCA2 sequence will develop breast or ovarian cancer.
The Supreme Court recently issued its unanimous decision in the closely-watched case of Association for Molecular Pathology v. Myriad Genetics, in which it held that an isolated segment of human DNA is not eligible for patent protection. The Court held that Myriad Genetics did not have the right to be the sole user and analyst of two genes critical to the detection and diagnosis of breast cancer. Because the genetics company “did not create anything,” but rather only isolated a segment of naturally-occurring DNA, the Court ruled that Myriad’s claims were invalid based on the subject matter requirements of 35 U.S.C. § 101.
The Court found the mere act of isolating certain gene segments insufficient to receive patent protection. The Court affirmed the patentability of synthetic, man-made genes, and left open the possibility of providing patent protection for natural gene sequences that have been subject to some alteration. The ruling also provides guidance for drafting patents that claim other biomolecules, such as carbohydrates and lipids.
By invalidating Myriad’s patents, other genetic companies may be able to offer screening tests at competitive pricing. Whether the Court provided a definitive answer to the question, “are human genes patentable?” may not be known until these issues are further tested by the lower courts.
Isolating the BRCA1 and BRCA2 Genes
In 1994, researchers at Salt Lake City-based Myriad Genetics identified and obtained a patent on the precise genetic sequences that may harbor a mutation that corresponds to a significantly increased risk for breast cancer. By studying the genetic sequences of thousands of women, Myriad was able to pinpoint the mutation-carrying genes—a distinct sequence of 81,000 nucleotides designated BRCA1 and BRCA2. With this knowledge, Myriad has been able to offer a number of predictive breast cancer tests, albeit at a cost reflecting the $500 million that was spent in research and development.
The human genome is composed of DNA, the well-known double-helix chain. DNA is found in all known forms of life and functions as a blueprint for the various proteins that help to build cells. Although it is comprised of both coding and non-coding segments, only the coding segments of DNA are relevant to the creation of new compounds. By splitting DNA into two strands and excising the non-coding portion, the body is able to use the resulting genetic code to generate different amino acids, the building blocks of proteins. In this manner, the human body constantly produces a vast number of different proteins based on the discrete segments of DNA known as genes.
This same replication process can be performed in the laboratory. Moreover, lab technicians can create synthetic DNA that includes only the coding portions of the genetic sequence. By utilizing these well-known procedures, Myriad isolated and recreated the precise mutation-carrying gene its researchers had already identified. By comparing patients’ BRCA gene with normal BRCA genes to identify any discrepancies—known as mutations—Myriad’s test can inform individuals if they are genetically predisposed to a severely increased risk of developing breast cancer.
Myriad obtained a composition patent on BRCA1 and BRCA2, thereby preventing any other company from reproducing the genes for the purposes of screening tests. When the University of Pennsylvania’s Genetic Diagnostic Laboratory (GDL) began offering genetic testing services to women, Myriad filed suit to enforce its patent. The case settled when GDL agreed to stop testing and otherwise cease all allegedly infringing activity. In similar fashion, Myriad prevented a number of other entities from providing BRCA1 and BRCA2 genetic testing.
In 2009, Dr. Ostrer, a researcher at New York University School of Medicine who routinely sent his patients’ DNA samples to GDL for testing, sought declaratory relief to obtain a judgment of patent invalidity.
Affirmed in Part, Reversed in Part
Myriad presented the Court with a profoundly fundamental question to resolve, especially in the face of very complex science: where to draw the line between natural and man-made. The Supreme Court and the Federal Circuit have interpreted patent laws to allow protection for “anything under the sun made by man,” while also denying the grant of a patent monopoly to laws of nature, natural phenomenon, or discoveries of such laws of nature, no matter how ground breaking, innovative or brilliant.
On March 29, 2010, Judge Sweet of the Southern District of New York issued a 152-page opinion determining that isolated DNA molecules were not patent eligible subject matter. The Court of Appeals for the Federal Circuit reversed, explaining that the claimed isolated strands did not exist independently in nature, but only as part of a longer DNA chain. The Federal Circuit upheld the claims on both the DNA and synthetic DNA compositions, as well as the method claims for screening of cancer-causing mutations.
Writing for the Supreme Court, Justice Thomas reversed the Federal Circuit on the DNA claims, but affirmed the portion of the ruling pertaining to the synthetic DNA. Myriad’s discovery and isolation of the naturally-occurring genetic sequences were not sufficiently transformative for patent protection, Justice Thomas explained. Conversely, the synthetic DNA—a copy of DNA, only without the coding segments—was unlikely to ever be naturally occurring and therefore was eligible for patent protection.
The decision comports with the Supreme Court’s previous jurisprudence relating to bioengineering inventions. In Diamond v. Chakrabarti, the Court gave the nod to a patent claiming an engineered bacterium that had never before existed in nature. 447 U.S. 303 (1980). In Funk Brothers Seed Co. v. Kalo Inoculant Co., however, the Court ruled that discovering compatible combinations of bacteria without altering them in any way was not enough for patent protection. 333 U.S. 127 (1948).
The impact of the Supreme Court’s decision may be felt most by women who soon might be able to purchase more affordable screening tests for the BRCA1 and BRCA2 genes. More than 1 in 10 women develop breast cancer, and it is not unreasonable to assume that the social importance of this technology weighed on the minds of the Court’s members.
However, Myriad is not ready to give up its monopoly on BRCA gene testing without a fight. When Ambry Genetics publicly announced that it had begun offering cheaper breast cancer testing as a result of the Court’s ruling, Myriad filed a patent infringement suit asserting a number of patent claims that were left intact by the Court. Myriad argues that the Supreme Court affirmed the validity of its claims directed to synthetic DNA and methods of testing. Ambry Genetics disputes that its tests utilize synthetic DNA or Myriad’s testing methods. Only time will tell whether competitors will be able to offer genetic screening tests while successfully steering clear of Myriad’s surviving patent claims.
Finally, it is unclear how the Court’s ruling—which addresses only DNA—will affect the rest of the biotech industry, especially with respect to the practice of patenting other isolated organic compounds, such as lipids and carbohydrates. The same day the Court issued its ruling, the PTO released a memorandum instructing patent examiners to “reject product claims drawn solely to naturally occurring nucleic acid, or fragments thereof, whether isolated or not.” The decision may encourage the biotech industry to draft patents regarding the human genome differently, emphasizing the method of creation and the dissimilarity with the naturally-occurring version of the biomolecule