By Debra JH Mathews, PhD, MA

Until yesterday, Myriad Genetics, Inc., held patents on two of the genes in each of our cells: BRCA1 and BRCA2. These two genes, if mutated, can cause breast cancer in women and men and ovarian cancer in women. Last week, if you wanted to know whether your particular versions of BRCA1/2 contained cancer-causing mutations, the only way for you to find out (in the US, at least) was to pay Myriad about $3500 – a high price for most and impossibly high for some.

On June 13th the Supreme Court, in Association for Molecular Pathology v. Myriad Genetics, held that a “naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated.” This is true even if the discovery of the gene is groundbreaking and innovative, and even if the work of finding it was really, really hard. Importantly, the Justices also concluded that cDNA (a version of the naturally occurring gene that has been edited down to just the bits that code for a protein) can be patented because it is not naturally occurring.

So what does this mean for BRCA1/2 testing, and more broadly for biotechnology research and development? So far, it’s unclear. For BRCA1/2 testing, it is important to point out that the broadest of Myriad’s patents at issue in the case were set to expire in 2014 and 2015 anyway. In addition, Myriad appears to believe that their other patents on methods for testing will protect their BRCA1/2 test from competition. That said, others believe that Myriad will begin to face competition in BRCA1/2 testing both within academic medicine and commercially, and apparently that race has already begun.

Regardless, due to the monopoly on testing that Myriad has had in the US to date, they are the only ones who currently have the data necessary to interpret the meaning of many of the mutations in BRCA1/2. Your genome, in isolation, can’t actually tell me much – I can only tell you about your genome (or your mutations at BRCA1/2) if I’ve looked at lots of people’s DNA and so can match up particular mutations with particular outcomes. For example, if I see that you have a mutation in BRCA1, but I’ve never seen that mutation before in anyone else, I can’t necessarily tell you if that mutation increases your risk of breast cancer; all I know is that it’s a rare mutation of unknown significance. On the other hand, if (I’m Myriad and) I’ve seen 1500 people with that mutation and only a few of them have developed cancer, I can be fairly confident that a preventive mastectomy should not be considered. Genetics is a collective enterprise… except when it isn’t; invalidating Myriad’s gene patents does not mean they have to share their data.

Beyond BRCA1/2, this ruling is good for biotech in the sense that modified DNA molecules, including cDNA, were upheld as patentable – the Court could have said that none of it was patentable. However, it’s clear that the Court is willing to put limits on patent eligibility. They have acknowledged that the patent system, which was designed to foster innovation by granting a period of market exclusivity, can go too far, to a point where exclusivity stifles innovation. Striking the balance between innovation fostering and innovation stifling can be difficult, in particular when you have one set of rules that has to cover areas as diverse as biotechnology, computer science, and business methods.

Having decided that human genes are not patentable, it is conceivable that the Court might, when faced with the question, also decide that other bits of human bodies, such as cells, are likewise not patentable. This could have implications for areas such as stem cell research and regenerative medicine, which have seen their share of ethics and policy challenges, including a set of broad patents on embryonic stem cells. Because of the way that embryonic stem cells grow and become other types of cells, such as cardiac tissue, patents on early stages in that process constrain what can be done with all other downstream cells. A decision that human cells are not patentable could free many researchers and companies to develop cell-based therapies without fear of running afoul of a set of very broad patents on technology that is foundational to the field.

In the end, the gene patenting decision is a huge deal for the patient and research communities – no one gets to own our genes. How far-reaching the impact will be in practice remains to be seen.

Debra JH Mathews, PhD, MA, is the Assistant Director for Science Programs for the Berman Institute of Bioethics at Johns Hopkins University. Her research interests focus on the intersection of science, public policy and society.

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