I currently work on the UK branch of the Personal Genome Project (PGP-UK), which has stirred up quite a bit of controversy and was featured in an article by the Guardian this week. The principle of this project (which was originally set up by George Church in Harvard over ten years ago) is that people volunteer to have their DNA sequenced, which combined with their medical and trait data, can contribute to scientific research, improving understanding of the role of the genome in human development and disease. The unique thing about the PGP however, is the open access informed consent policy. This means that when you sign up, you agree to make your DNA sequence and medical records available to the general public.
Such open access data resources have two main implications for the future of personalised medicine. Firstly, they provide a unique resource for researchers to test scientific hypotheses without the constraint of funding and data generation, which will ultimately, along with health and prescription records, allow advancement of personalised medicine research. Secondly, they empower individuals to make more informed decisions about their lifestyle and healthcare. Participants are able to assess their risks for certain diseases and adjust their behaviour accordingly.
While the benefits of open access data are enormous, some people have concerns about the open access policy. In an era where people are obsessed with data privacy and are constantly worried about their personal data being made public, it may seem somewhat counterintuitive to make all this information freely available to anyone who cares to seek it. During the (very lengthy) sign up process, the PGP are absolutely clear that, while you can withhold your name from the process, there is absolutely no guarantee that people will not be able to link the data back to you. DNA is itself, after all, the ultimate personal identifier. Further, there is a potent argument that any idea of anonymity in data is an illusion anyway, and that most “anonymised” data can be directly tracked back to the person it relates to. This was very eloquently shown by Latanya Sweeney from the Data Privacy Lab at Harvard University in 1997, when she cross referenced the zip codes, age and gender from commercially available anonymised medical records with details from the electoral register. Using this strategy, she was able to identify the medical records of the governor of Massachusetts at the time, William Weld, who had himself supported the release of the medical records.
The debate about whether or not open access data is a good thing ultimately boils down to whether you consider the benefits to outweigh the risks. In my opinion, open access data has the potential to revolutionise research, and empowers people to take control of their own destiny. After all, knowledge is power.