Personal genetic testing: what lies beneath

Greetings friends,

Fare thee well? After just a few short days since my last post, I have been moved enough to write a short piece on my current thoughts about personal genetic testing. Having read a very interesting article on the BBC website by Dr Ainsley Newson, an ethics expert at Bristol University, I have decided to proffer some of my own personal thoughts on the subject. This is particularly pertinent to me since I will be studying health policy, including biomedical ethics, very soon indeed.

So what's the deal? Well, it was only back in 2000 that first human genome sequence was first published. And it seems that we have come a long way since then. Apparently, for around $400, several online companies will already sell you a "snapshot" of your genome. Most practically, this will estimate your risk of developing certain diseases. However, on a much more trivial level, it could also "predict whether you are likely to enjoy the bitterness of broccoli", as Dr Newson says.

But with exponentially increasing processing power (Moore's Law), genome sequencing can now be done much faster and cheaper - apparently you can now get your whole genome sequence for $50,000, and this is set to fall to $1,000 pretty soon. In short, the service will become a commodity. So what's the problem I hear you cry? Let's say that I decided to pay the $50,000 going rate to get my whole genome sequenced by a private company offering the service. The results come back and show that I have a very high chance of developing heart disease in later life. Well, this wouldn't be so surprising given I have a familial history of it, and am in a demographic that is genetically susceptible to the disease, sadly. Nonetheless, this probabilistic approach could vastly extend and improve my quality of life in the long term in that I could start to take proactive action in changing my lifestyle, so as to delay the onset of the disease. It is possible I could even avoid ever getting heart diease. Prima facie, this is surely a great thing, and when extended to the myriad disease states, can only be an excellent tool for mankind if applied in the right way.

There are however, inherent ethical issues that also spring to mind. Should third parties have access to these data? And should we test babies or children? What if the testing becomes so advanced that it becomes possible to sequence the whole genome of an unborn foetus? Will the abortion rates increase correspondingly? And what about the health insurance consequences? And could this really prove whether someone being homosexual really is down to their genetic makeup. The ethical and philosophical quandaries are endless...

Dr Newson argues that ultimately this sort of genetic testing should be very carefully regulated by the medical profession. ie. clinicians who are trained in the field and can interpret best the genetic information provided by genome sequencing. But she also treads the argument that there may be a risk of paternalistic 'doctor knows best' attitude, denying people the right to their own genetic information. My issue with this is that I am not actually sure whether much of the medical profession (i.e. GPs and clinicians) are clued up on genome sequencing and the ethical implications relating to it. I have several friends who are are doctors in their late 20s in a variety of fields and I am not so sure they would be more clued up than myself. And I certainly don't claim to be an expert. So perhaps, medical curricula will have to change accordingly, and current doctors will have to be trained if this technology does eventually diffuse.

At the end of the day, since this service will soon become affordable to the masses, it will not be possible to stop such testing unless it is heavily regulated. Dr Newson argues that this is not paternalism but "responsible consumer protection". I agree with this statement in principle. However, I do not think it will stop people with the means and funds (with no clinical training) to go ahead and get their genome sequenced. She further argues that it could "provide a drain on NHS resources as people consult GPs, who may lack the required knowledge for support and interpretation", supporting my earlier comments.

Nonetheless, once affordable, I will be seriously considering getting my whole genome sequenced. Surely you would want to know what lies beneath..?

Currently listening to Jon Hopkins's latest album, "Insides", and finding it to be a beautiful accompaniment to writing this piece.

Thanks for reading,

F.