The Supreme Court took on the question of human gene patenting this past November. It agreed to review this central questions in the context of a case started three years earlier when the American Association of Molecular Pathology with the ACLU and a few other medical and scientific research organizations challenged Myriad Genetics ownership of two genes that can predict breast cancer.Update: On June 13, 2013, the Supreme Court ruled that natural human genes are not patentable. Simply isolating a genes from surrounding genetic material is not enough of an invention for a patent.
What Genes Did Myriad Patent?
Starting in 1999, Myriad Genetics began sending cease and desist letters to researchers and testing laboratories working on the newly discovered BRCA1 and BRCA2 genes. Mutations of these genes have been linked to breast and ovarian cancers. Approximately 60% of women that have one of these mutations develop breast cancer and about 40% develop ovarian cancer. The lawsuit resulted when labs receiving these letters felt Myriad was wrongly stifling their work investigating these genes.
The link between mutations in the BRCA genes and breast cancer was first found in 1994 and 1995. Mark Skolnick, who formed Myriad in 1990, collaborated on this work and obtained patents related to these genes in the late 1990s. The company holds over twenty patents with claims on these two genes.
The Appeals Ruling
The initial Federal District court case ruling in 2010 found that the isolated DNA covered by the Myriad's patents and used in the diagnostic test was not, "markedly different from native DNA as it exists in nature" so it not patentable. Also, that Myriad's claims on methods for analyzing genetic samples were not patentable since the "analysis" simply involves a mental process of comparing the DNA sequence in the mutations associated with cancer. In the summer of 2011, the US District Court of Appeals agreed that the "analysis" was not patentable, but the isolated DNA used to make the comparison in the test were patentable. These are more commonly known as positive controls. Basically, the Court of Appeals reinstated much of Myriad's patent position by saying that they owned rights to use isolated DNA corresponding to the BRCA mutated genes. Following the Court of Appeals ruling, both sides were unsatisfied and the case was eventually referred to the Supreme Court.
Prometheus and Patenting an Observation
However, before deciding on whether to take the Myriad case, the Supreme Court ruled on another biotech case with a similar situation. Prometheus Laboratories, also a biotech company, sued the Mayo clinic for running blood tests they had patented. The medical test in this case measured the amount of an enzyme in the blood to determine the best dose of a drug for a patient. Prometheus lost. Prometheus didn't have a patent on the drug, just on the test to look at the amount of some blood component. Based on this, they could recommend a starting dose to the doctor for the patient. The Court said the test consisted of just observing how much of a natural blood component is present, which is not patentable.
Does the Myriad test also just amount to an observation of a natural occurrence? The essence of the genetic test is to just determine whether someone's DNA sequence has certain variation in the BRCA gene. The test is done a little differently than the Prometheus test, though. To identify which BRCA gene variations an individual has, copies of the BRCA genes are made from a patient's sample using the polymerase chain reaction (PCR). The results of these PCR reactions are compared with similar ones done with pieces of DNA containing known BRCA mutations associated with cancer. The products of the patient's PCR reactions are compared with those obtained from the known DNA pieces to identify which mutations are in the patient's DNA. While the essence of the test is an observation, running it using PCR, as it currently done, requires having isolated DNA pieces with the known BRCA mutations. The Court of Appeals said Myriad can have a patent on these.
The Supremes Seem to Think There Is More to It
In March of 2012, the Supreme Court seemed to think the Prometheus ruling was relevant to the Myriad case because, after invalidating Prometheus' patents, they asked the Court of Appeals to review the Myriad decision again. The Court of Appeals did and rendered essentially the same ruling in August 2012 as it had the previous year—Myriad's patents on isolated genes were good. Following this, the ACLU petitioned to the Supreme Court for another review and, in November 2012, they agreed to look specifically at the gene patenting issue. As a result, we are now waiting to hear their ruling on whether companies can patent human genes.
In fact, though, estimates are that almost 5,000 human genes are patented in some manner. The question seems to be more how valid these claims on human genes are. Hopefully, the Supreme Court's upcoming ruling will tell us.(Published: January 6, 2013)