WIRED:It's time to consider saving a copy of your DNA data to your hard drive before regulators try to create obstacles, writes DANNY O'BRIEN
IT’S ABOUT five megabytes big when zipped, and I can open it in a text editor, like Notepad or Textedit. The few lines at the beginning start with “#” symbols, just like many computer programmes. You start a line with a hash like that when it’s a comment, describing the next few lines of code.
But in all of this 579,000 lines of code, only a handful are comments. Perhaps that’s not surprising, given that this file isn’t a man-made computer programme. It’s a computer-made man programme – a readout of my DNA. I got it from 23andMe, a company that The Irish Times has written about before (one of the Silicon Valley start-up’s founders is Brian Naughton, a geneticist from Dublin).
The primary service of 23andMe is to turn this raw data-dump into something useful. After you’ve sent your DNA to be analysed by their labs (by unceremoniously spitting into a vial and popping it into an envelope), the company provides you with a personalised website, listing ancestral connections and personalised health issues connected to your genetic heritage.
It’s not based on a full genomic sequence, which is still prohibitively expensive. Instead, 23andMe’s service is based on analysing the smallest parts of the genome that have been recognised as varying between individual humans. These are called single-nucleotide polymorphisms, or SNPs. The service currently looks for about 600,000 SNPs, but you can “bank” your saliva on the assumption that they may be able to include more SNPs later.
Analysing DNA is no easy business: as you may have noticed from the distinct lack of much gene-based medicine, regular medical DNA analysis, or artificial super-powered mutants, personal genetics is not yet a very developed science.
Many of us don’t quite have a grasp on the subtle probabilities and tentative nature of cutting-edge medical research.
The analysis 23andMe gives is hedged with all kinds of careful language: I know from my gene analysis that I have a slightly increased chance of getting diabetes, but 23andMe practically warns me off making any treatment decisions based on that vague diagnosis.
More emotionally-charged subjects are fenced off with even greater provisos: I have to carefully read a long disclaimer before I can even see what 23andMe and medical science knows about me and Parkinson’s disease (the answer: not much).
There’s a reason for all of this caginess beyond a concern that ordinary members of the public can’t do risk analysis for themselves. The US Food and Drug Administration (FDA) has been muttering for some time about regulating services like 23andMe. Last week, they sent a letter to it and four other genetic testing companies, warning them that their DNA analysis was a medical device, and therefore required clearance by the regulatory authority.
With respect to the FDA, that’s a profound misunderstanding of the business that 23andMe is in. Underneath all the simplified language and DNA summaries, is the core product I paid 23andMe for: that text file. The company lets you download the raw data of my SNPs, including hundreds of thousands whose function it has no clue about.
The science of genomics might be fuzzy right now, but it’s getting better all the time, and thousands of researchers are focusing on the meaning of all those SNPs every day. Enthusiasts and academics are collating the results and crunching their own codes to find out what they can. Take the SNPedia, for instance – a Wikipedia for SNPs, where anyone can read up on the latest research and compare it to their own DNA results.
The SNPedia developers have written their own open source programme to better analyse one’s DNA in as detailed and as contemporary a manner as is possible. “Promethease”, their application, will pore over your SNP data for three hours, and then spit out 15 megabytes of information gleaned from medical studies, from proclivity to suicide to the colour of your eyes.
The careful wording and cautious over-explanation of the 23andMe site pales in comparison to these treasure troves of self-knowledge. Most of it, at first glance, is an incomprehensible as an astrological chart. But there’s something about looking at the very core of your own blueprint that encourages further research.
If the FDA gets its way, that kind of self-knowledge is too dangerous to be left in the hands of . . . well, in the hands of the people who actually carry that DNA. By attempting to regulate away DNA analysis retailers like 23andMe, they risk destroying the real revolution here – wholesale DNA data dumps: the provision of enough information for me to learn and make my own informed decisions about my life, without depending on 23andMe or any other company that might resell me my own data.
Even if their intentions are pure, the FDA may be making things worse. The reason I’m looking at this text file, instead of the summaries on 23andMe’s site, is because if the FDA decides to shut it or limit its services, I’m damned if they’re going to deny me access to my DNA. I’m saving a copy on my own hard drive.
My medical future is too precious not to make a few backups of my genetic programme code.
