Patents in biotechnology are complicated and controversial, with different groups arguing that they either promote innovation or stifle important research. Cases like that of Myriad Genetics, which patented gene variants associated with high risk of breast cancer in 1997, are still being fought in court, with patents invalidated and rulings appealed. At the same time, patents on synthetic genes and synthetic biology tools are being filed in parallel with a more open source approach to basic research, to spur investment in companies using the tools of synthetic biology and to promote open collaboration by a diverse community of researchers.
The recent news of 23andMe's first patent shows how patents on natural genes continue despite the complex legal situation faced by other companies, and despite an explicitly stated ethos of openness and "democratization." 23andMe has patented methods for screening the naturally occurring variants of the human genome they found to be associated with risk for Parkinson's disease. The announcement on the company's blog, The Spittoon, clarifies what they hope the patent will and won't do:
[T]he patent will be important for a biotech or pharmaceutical company to pursue drug development...We believe patents should not be used to obstruct research or prevent individuals from knowing what’s in their genome. We believe that everyone has a right to know their genomes — their sequence of As, Ts, Cs, and Gs — and should be able to access them should they want to. This has been our guiding principle since day one, and 23andMe has pioneered the ability for individuals to have unfettered access to their genomes.
But the language of the patent itself doesn't focus on any pharmaceutical development, but on diagnosis and prognosis based on the variant:
What is claimed is:
1. A method for screening a human subject for susceptibility to Parkinson's Disease (PD), the method comprising: obtaining a nucleic acid sample from the human subject; determining which allele is present in the sample at the polymorphic nucleotide position of SNP rs10513789 (SEQ ID NO: 1); and identifying the human subject as having an increased risk of developing PD if the subject has a T at the polymorphicnucleotide position of rs10513789 (SEQ ID NO: 1).
2. The method of claim 1 wherein determining the identity of the polymorphic allele(s) is by a process that includes one or more of: sequencing the polymorphic allele(s) in a genomic DNA isolated from the nucleic acid sample, hybridizing thepolymorphic allele(s) or an amplicon thereof to an array, digesting the polymorphic allele(s) or an amplicon thereof with a restriction enzyme, or amplification of the polymorphic allele(s)...
6. A method for generating a prognosis of a human subject's susceptibility to Parkinson's Disease (PD), comprising: obtaining a genomic sample from said human subject; analyzing the genomic sample to determine which allele is present in thesample at the polymorphic nucleotide position of SNP rs10513789 (SEQ ID NO: 1); storing the determined allele of the sample in a database that includes a set of information related to said subject; correlating the determined allele with an associationbetween the alleles of rs10513789 (SEQ ID NO: 1) and susceptibility to PD in the database; generating a prognosis of the subject's susceptibility to PD based on the correlation; and communicating the prognosis of susceptibility to a medicalpractitioner.
7. The system of claim 6 wherein the set of information related to said subject comprises family medical history, diet, exercise and medical history of said subject.
You can have your genome any way you like it, as long as it's licensed from 23andMe.
It remains to be seen how any of this will play out (and whether the patented SNPs will remain associated with risk for Parkinson's disease as more people are sequenced) but it's interesting to see how new biotechnology paradigms like direct-to-consumer genomics or synthetic biology are squeezing themselves to fit in with old-fashioned intellectual property regimes. An interesting and timely paper published last week titled "Ownership and sharing in synthetic biology: A ‘diverse ecology’ of the open and the proprietary?" by sociologist of science Jane Calvert discusses the history of gene patents in the context of synthetic biology and the tensions between the open source and proprietary model. The engineering context of synthetic biology can make patents a more "natural" fit than in genetics, where genes that real people are born with can be patented by a company. Calvert writes:
The guiding aim of [synthetic biology] is to develop biological components that are standardizsed, interchangeable and can be combined (often called ‘BioBricks’), so that new parts do not have to be created in a bespoke manner every time a new biological device is built. In the context of IP, the most important principle adopted by this approach to synthetic biology is modularity...
As Pottage (2009) has noted, modular systems are well-suited to IP regimes, as ‘property lawyers of all species are quite at home with the notion of modularity’ (p.169). This is because modular entities are discrete, which makes them easier to describe in patents and to treat as commodities. We see that in applying engineering principles to biology, synthetic biology is making biology better fit with IP regimes (Calvert, 2008) [PDF].
While modularity can promote patenting, the BioBricks Foundation and the Registry of Standard Biological Parts promote open source sharing and community building. Legal frameworks like the BioBricks Public Agreement attempt to formalize sharing but leave open the possibility of commercial development:
In addition, according to the agreement, parts can be patented if they are used to produce novel materials and applications. In this way, proprietary systems can be built on an open platform. The explanation given for permitting patenting in certain circumstances is that it will ‘[e]nable a rich, fully diverse ecology of commercial and public benefit use from the outset’...The idea is inspired by the rich ecosystem of software innovation, which is regularly referred to approvingly in synthetic biology meetings. Synthetic ￼biologists like to point out that in software the open source and the proprietary (sometimes referred to in terms of Stallman and Microsoft) happily coexist, and that Google, for example, has both an open source browser and closed search algorithms.
I like the idea of ecology here, mostly because it opens the door for adaptation. We've tried to make genetics fit into patent laws written well before anyone knew what DNA was, but perhaps in the interactions between the many diverse groups involved in biotechnology, from 23andMe users to students participating in iGEM to multinational corporations, new ways to promote innovation that is accessible to all might evolve.