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Why a 25% risk of developing Parkinson’s really does matter

23 September 2008 2 views No Comment

There has been a lot of commentary around the blogosphere about Sergey Brin’s blog post in which he announced that his SNP profile includes one variant which significantly increases his risk of developing Parkinson’s disease. The mainstream media seem mostly to be desperately concerned about the potential for the ignorant masses to be misinformed about what the results of such tests would mean and the potential for people to make unfortunate decisions based on them (based on that argument I’m not sure why we are allowed to have either credit cards or mortgages but never mind). The other, related stream, which is found more online is that this is all a bit meaningless because the correlation between the SNPs 23andMe measure and any disease (or indeed any phenotype) are weak so it’s not like he knows he’s going to get it – why not get a proper test for a proper genetic disease?

I think this is missing the point – and I think in fact, his post could represent the beginning of a significant change to the landscape of medical funding – precisely because that correlation is weak.

In the western world we have been talking for decades about how ‘prevention is better than cure’ yet funding for disease prevention has always remained poor. It’s not sexy, it is often long term, and it is much harder to get people to donate money for it.  Rich people donate money because relatives, or they themselves, are already ill. They are looking for a cure, or at least a legacy of helping people in the same situation.

The Health Commons project run by Science Commons has as its aim the reduction of the transactional costs involved in getting to a drug. If you can drop the cost of making a cure for a disease from $1B to $1M you have many orders of magnitude more people who can afford to just ‘buy a cure’ for a loved one, themselves, or to make themselves feel better.  This vision, and what it does to global health, even if the success rates are relatively low, is immensely powerful. And it needn’t apply just to drugs, or to cures.

But Brin doesn’t want a cure necessarily. Actually that’s not true – I’m sure he does, his mother has Parkinson’s and his great aunt suffered from it as well. Anyone who has seen someone suffer from a degenerative disease would want a cure. But equally, he’s a smart guy and knows just how tough that will be, and how much money is already going into such things.  But he can now look at his genetic profile now and look at which diseases he is predisposed to get. He can look at which of those he is really worried about. And then he can dig into his pocket and decide what the most efficient use of his $15B fortune is. Sure he will put millions into developing treatments, but the smart money will go on research into prevention or slowing onset. He has the time before any likely onset to allow programmes on prevention to run for 10-20 years before he will need to take a best guess on implementation.

And the point is that there will be a growing number of people having only the probabilities based on SNP data to work on making similar judgements about a range of diseases. And don’t believe that if we have full genome sequences those probabilities will get any better either. More precise yes. Better linked to phenotype? Not for a while yet. People who get these tests done don’t know exactly what they will get, but they have an idea, and they might have that idea up to 50 years in advance. Now consider what happens if the costs of developing methods to prevent or delay onset drops to the point that millionaires can make an impact. A thousand or maybe a miillion-fold more people with a deep interest in preventing the onset of specific diseases, an understanding of risk-based investment, and the money and the time to do something about it.

Preventative medicine just became the biggest growth area in medical research.

p.s. Attilla gets it – he’s just thinking regenerative rather than preventative – maybe they are the same thing in the end?

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