23andMe – the home genetic testing company backed by Google – have announced they want to use their data for drug development. I think this is a great idea, but a very important time for Google to remember their “Don’t be evil” policy.
What is 23andMe?
23andMe offer mail-order personal genome sequencing: you’re sent the kit, you take a swab of DNA from inside your cheek, send it back and wait for a copy of your own blueprints to appear online. What an age to live in! The data comes in the form of a ‘SNP panel’, meaning it tests for a long list of known single nucleotide changes that are common in the general population. The unique pattern of SNPs you have inherited can show you your ancestors paths across the world, as well as identify some nasty diseases you may carry or be predisposed to.
A South-African colleague of mine took one of the tests for fun. He was pleasantly surprised to find that the family rumour that his great-great-great grandmother was black were true, and that his whole family had inherited some of her black-african SNP pattern. He took great pleasure in announcing this at a family gathering, in front of some unpleasant racist relatives. Nothing annoys bigots like scientific proof that they’re ideas are bad and they should feel bad!
How can this data be used for drug development?
In the world of drug development, a very common practise is to identify ‘theraputic targets’ by sequencing DNA from a bunch of people with the same disease and looking for any common factors. Most of the time, mutations cause disease by increasing, decreasing or altering the production of a particular protein. Identifying a mutation that affects a gene that produces a protein gives researchers a target. They can then try and develop a drug that replaces the deficient protein, or inhibits an overactive or faulty one. Then, they can test the drug’s efficacy in a model organism, such as a mouse they have engineered to carry the same mutation.
So far, so science. This works some of the time, which is great, but also fails frequently, which is expensive. A lot of the problems people have with drug companies stem from the fact that drug development is an incredibly expensive and extremely high risk enterprise. This leads to a culture of ‘holding information to ransom’, and refusing to share important medical discoveries with the rest of the world. 23andMe could help put this power back into the hands of the public. Alternatively, they could become just as closed off as every other Glaxo-Smith-Kline.
Is that a good thing?
I don’t subscribe to the idea that drug companies are necessarily ‘evil’ – the nature of their industry makes it almost impossible to succeed financially without failing ethically. On average, it takes around 15 years and costs $2 billion to develop a drug and get it to market. The law then says that a company owns the patent for its new drug for five years, after which they must release it for general production. How can a business profit under these conditions? Either by charging an extortionate amount for that five years, or by adopting shady practises, such as recalling ‘faulty’ drugs every 4.9 years and re-releasing them under a different name.
If we want free information and affordable medicine, drug development should be left to governments and charities, not to businesses. Alternatively, you can look to society’s hive mind do the work for you. The general public is a huge resource with inestimable computing power. There are already several highly successful crowd-sourced research enterprises:
–Galaxy Zoo has allowed the general public to help in the categorization of thousands of galaxies recorded in pictures taken by telescopes and satellites. Computers are terrible at this, but the hive-mind has taken the project forward in leaps and bounds (give it a go!)
–The Yellow Card Scheme allows people to self-report any adverse reactions they had to medications. Thousands of people filling out detailed reports of things like what they ate that day and how they took their medication has allowed us to make some important discoveries that could have gone undetected for years otherwise,such as the dangers of drinking grapefruit juice while on some medications.I like the idea of handing science back to the people. It shouldn’t be shrouded in mystery. It’s not something for a chosen few messy-haired geniuses, it’s for people who are interested in solving problems and moving forward. 23andMe has a real opportunity to gain masses of extremely rich data and make discoveries like never before. I hope that they choose to remain clandestine with this information: the more people are allowed to contribute and become involved, the richer their dataset will become.
Self-reporting, of course, has many biases. Can you remember if your great aunt died of a stroke or an aneurysm? Do you know exactly how all your extended family are related? There are going to be problems with reliability in any dataset this big. I think the more input involved of both the public reporting and by scientific analysts, the better. Robust analysis is as big an issue as self reporting when crunching big data. It can produce a lot of red herring correlations and false effects. On top of that, these 23andMe kits won’t tell the whole story: they don’t test anything close to the whole genome, and may not even detect mutations that involve large chunks of DNA. While the project has a real, genuine chance at finding some new drug targets or previously unknown interactions, the findings need to be treated with caution. The presence or absence of a mutation is just the first step in how a disease plays out: the phenotypic effect of one little change, like the one that causes sickle cell disease, can be extraordinarily hard to predict because it depends on the interaction of a whole range of factors at genetic, cellular and environmental levels.
With big data comes big responsibility. I’m going to be following this with interest and maybe buying a kit! However, perhaps more is going to come out of the huge governmental project that’s just starting to gather momentum: The 100,000 Genomes Project.