Earlier this week 23andMe, the Silicon Valley-based personal genomics company, was awarded its first patent: US Patent Number 8,187,811, entitled “Polymorphisms associated with Parkinson’s disease”.
23andMe co-founder Anne Wojcicki announced the issuance of the patent via a post on the company’s blog late Monday evening, attempting to strike a tenuous balance between her company’s oft-championed philosophical devotion to providing individuals with “unfettered access to their genomes” and its desire to commercialize the genomic information so many of those very same individuals have shared, free of charge, with 23andMe. With its new patent, 23andMe also injected itself into the middle of what Wojcicki herself described as the “hot debate” surrounding the patentability of “inventions related to genetics.” Wojcicki’s announcement appeared to catch more than a few of the company’s customers by surprise, sparking concern about the company’s intentions on 23andMe’s blog, Twitter and elsewhere, along with rapid and pointed commentaries from Stuart Hogarth and Madeleine Ball, among others.
Of the various questions asked of and about 23andMe and its new patent, these may be the three most common: Where did this patent come from, and why didn’t I hear about it before? What does 23andMe’s patent cover? How is 23andMe going to use its patent? Let’s take each question in turn.
What rules should govern the participation of children in large-scale genomic biobanking research? That’s the question that David Gurwitz, Isabel Fortier, Jeantine E. Lunshof and Bartha Maria Knoppers tackle in a policy forum piece in the current issue of Science.
The Importance of Open Consent
In considering the use of DNA samples and phenotypic data provided by children to biobanks, Gurwitz et al. argue that the traditional notion of confidentiality or anonymity, at least when it comes to genomic data, is an illusory one:
DNA remains unique as a permanent identifier throughout an individual’s life… As sequencing of entire genomes becomes a routine procedure, DNA donors’ privacy can never be completely ensured within biobanks. Individuals can be traced even in very large aggregate data sets spanning thousands of donors. As a consequence, there is no ‘opting out’ from biobanks once DNA sequences have been published and deposited with public databases.
Along with one of the co-authors of the Science piece (Lunshof), I’ve written previously about the inability to promise privacy in the genomic context (pdf). That premise, coupled with the determination that informed consent requires open and complete disclosure of the risks of participation in genomics research, has served as the basis for of the Personal Genome Project’s (PGP) informed consent protocol (pdf):
If you are enrolled in the PGP, your genetic and trait information will not be maintained or made available in a confidential or anonymous fashion. Your genetic and trait information will be made available via a publicly accessible website and database….
Over the weekend I took part in the 13th Conference on Genetics & Ethics in the 21st Century in Breckenridge, CO. The theme was “Genomics and Personalized Medicine, Facts, Fiction, Future?” Although the altitude (Breckenridge is at 9,600 ft) posed a problem for several participants, the conference otherwise went off without a hitch.
The program kicked off with a focus on the state of genetic and genomic knowledge with an excellent talk by Richard Gibbs of Baylor’s Human Genome Sequencing Center, who provided a progress report on the 1000 Genomes project and predictions for the future of large-scale genomics research. Penn State’s Kenneth Weiss followed with “Genetic Causation: A Fermi Problem” and presented a compelling challenge to the received wisdom of genetic heritability. Some of the most interesting discussion was driven by a question posed to Richard Gibbs: whether there are instances where the ethical, legal and social discourse surrounding genetics and genomics has either failed to keep pace with, or outstripped, the progress of science. Beyond a general consensus that Gattaca-style genetic prediction lies far beyond the horizon (if it will ever be possible), Gibbs seemed to think that on the whole the ELSI discussion was often out in front of the science, but not by an inappropriate distance. This topic provided fodder for considerable debate throughout the remainder of the conference.
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