Myriad: The Right Decision for the Wrong Reasons

Over half of women who carry mutations on their BRCA1 or BRCA2 gene will develop breast cancer before they are 70. Angelina Jolie recently had a double mastectomy after discovering she has a mutation in her BRCA1 gene. By doing so, she decreased her chance of developing breast cancer substantially. Now, especially for women who have a history of breast cancer in their families, knowing whether you have the gene that predisposes you to the disease is incredibly valuable.

The recent Supreme Court ruling on the patentability of genes centered on two isolated genes, BRCA1 and BRCA2, for which Myriad, the company that first discovered them, held a patent. The ruling, that isolated DNA is unpatentable but cDNA is potentially patentable, has drawn commentary from the legal community and the press at large. However, few have asked why Myriad cared so much about preserving a patent on isolated DNA in the first place. The answer to this question, that they wanted to secure the exclusive right to diagnose BRCA1 and BRCA2 mutations, illuminates the true gravity and effect of the Supreme Court’s ruling. Although the ruling has rightly been lauded as the “correct” one, its reasoning is confused and does little to settle the law of bioinformatics or the degree to which companies can profit from genetic discoveries.

The value of knowledge

DNA is the common thread that ties all living things together. Our genetic code is akin to a recipe, instructions that our cellular machines use when building us. Until recently, we had no real ability to read our genes and no idea what the recipe was. In recent decades, however, the ability to sequence DNA has given us access to the raw data, but we still know very little about how the data is actually used and interpreted by our cellular machinery. Understanding and interpreting the data of our genetic code has therefore become the latest large frontier for human biological discovery.

Although our general genetic makeup is shared by the entire human species, each individual has a unique genetic makeup inherited from his or her parents. Our genes give us many of our unique traits. They also potentially predispose us to certain diseases. Our genetic code provides instructions to our cells. A genetic disease is like a bug in computer code. Genetic diseases, as currently understood, typically result from a mutation or translocation in a piece of genetic code that is important for a particular biological function. Knowing the location of a gene is therefore necessary for diagnosing whether or not someone carries a particular disease-causing mutation.

Since the process of sequencing DNA was first developed, researchers have searched for and identified a multitude of locations on our genome where a mutation can cause our cellular machinery to malfunction, giving us a predisposition to certain cancers or hereditary diseases like Parkinson’s (Sergei Brin is investing in Parkinson’s research after discovering he possesses a gene that predisposes him to it). Given the complexity of the human genetic code and how it is expressed in our cells, discovering the function of a gene or the source of a genetic disease is a very costly endeavor. However, companies have thus far been willing to invest in this area in the hopes of profiting from the information. A legal monopoly on the diagnosis or treatment of a genetic disease is potentially incredibly lucrative. As a result, companies have invested billions of dollars in identifying the sources of genetic diseases and mutations in the hopes of commercializing their diagnosis and treatment.

In 1990, the first evidence came forward that there was a hereditary basis for some breast cancers. Following this discovery there was an international race to find the specific location of the disease in our genetic code. Scientists from around the world pored over and compared massive amounts of genetic data to identify the precise location of the gene. As the first discoverer of the relevant gene, Myriad sought a patent to establish a legal right to exclude others from diagnosing a mutation on it. To do so, it filed a patent that claimed a right to the isolated form of the BRCA1 gene.

An exclusive right to an isolated gene essentially provides an exclusive right to the diagnosis of any mutations in that gene. Since sequencing a gene necessarily requires first producing it in isolated form, with a patent on the isolated gene, Myriad could sue any company that sequences an individual’s DNA with the goal of identifying a mutation in the BRCA1 or BRCA2 gene. They could likely also sue any company that offered a diagnostic kit involving a probe for the isolated gene. By holding that isolated DNA is unpatentable, the Supreme Court has therefore substantially weakened any claim Myriad or companies with similar patents might have against those offering personal genetic sequencing for the purpose of diagnosing known diseases. By the same token, they have significantly reduced the potential return on investment for discovering the genetic source of hereditary disease.

The right decision, the wrong reason

New law is often arrived at by analogy to existing law. It was therefore not surprising that the Supreme Court Justices strained to relate their decision back to old doctrines. Although the transcript of the case’s oral arguments unsurprisingly demonstrates a lack of general scientific understanding on the part of the Justices, what is more fascinating is their intense focus on whether the products in question exist naturally in the human body or generally in nature. In asking these questions, the Supreme Court Justices stubbornly reached for old doctrines related to “laws of nature” without understanding what they were truly deciding.

The patent system, for simplicity and as a matter of policy, treats all innovation equally. If an invention satisfies the basic requirements of novelty, usefulness and non-obviousness, then it is entitled to a patent. New information regarding the function of our genes is arguably novel, useful and non-obvious. Furthermore, the process of arriving at this new information may require a massive investment in research. Should companies not therefore be given a way to profit from their investment in useful information? The Supreme Court Justices have done little to answer this question. Instead, by relying on old doctrine regarding “patentable subject matter” and “laws of nature” to decide that isolated DNA is unpatentable, they came to the “right” decision by answering the wrong question.

With the advent of second generation DNA sequencing technology, individuals have on the horizon the ability to cheaply sequence their entire genome. With this flood of raw information will come a growing consumer demand to understand what the genetic code means and does. The Supreme Court’s decision effectively prevents companies from using the patent system to claim a monopoly on the diagnosis of a mutation in a particular gene. The decision means we avoid the absurdity of companies being prevented from disclosing useful diagnostic information they possess for fear of being sued.

On the one hand, this outcome is good because it lets people leverage the full extent of mankind’s collective knowledge when interpreting their genetic information. On the other hand, it eliminates a potentially powerful incentive to invest in the discovery of new knowledge of what our genes do. The Supreme Court decision therefore raises the question of whether, in order to encourage investment in research, companies should be granted some rights in the discoveries they make, if not within the patent system, then outside of it. Having some sort of intellectual property right in these types of discoveries might be smart policy if it spurs investment in the type of large-scale comparative studies necessary for finding disease-causing genes. At least for now, this debate will have to happen in the legislative rather than the judicial branch of government, which is probably the right result.

Postscript: What about cDNA?

The Supreme Court’s cDNA (non)decision has a very different set of implications. Unlike isolated DNA, which reads directly on current genetic diagnostic techniques, a patent on cDNA is narrower and does not give the patent owner the power to exclude others from diagnosis. Without delving too deeply into the science, in a cell, messenger RNA is translated into proteins. cDNA is artificially derived from this messenger RNA and is useful when scientists are trying to produce a protein artificially. cDNA is also a common intermediate product in the creation of various genetic tools. Patentability of cDNA therefore raises completely different questions from that of isolated DNA. Scientists isolate or create new cDNA in order to produce new proteins or genetic probes, which are effectively new biological building blocks or machines. By contrast, scientists isolate whole genes primarily for the purpose of sequencing. Although the distinction drawn by the Supreme Court was between a product that exists naturally (an isolated gene) and one that was produced artificially (cDNA), the true difference rests far more in the different uses scientists have for these particular materials. In any case, with its utility as a biotechnological tool, cDNA fits more neatly into the definition of “patentable subject matter” (whatever that currently means) and the Supreme Court was probably right in preserving its general patentability for the time being.

 

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  1. Pingback: The Legal Implications of Individual Genome Sequencing

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