Lately I have been thinking a lot about if I would want to know in advance if I were to develop a serious illness. Would it make me live more “in the moment”, or rather would I spend my time lamenting about the inevitable. I have asked a lot of my friends this and get completely mixed, yet definitive responses – people respond one way or the other, without a second’s consideration.
In 2007 the first human genome was sequenced at a cost $1 million, aptly enough it was that of James Watson – one half of the pioneers that first described DNA double helix structure. We are now (predicted to be) just months away from the famed “$1000 genome”, and advancing at a far faster rate than that predicted by Moore’s Law – but what does this actually mean for me?
Today a new era of genetic testing has evolved known as direct to consumer (or DTC). A number of companies have sprouted up in the last few years offering customers genomic analysis to give information such as the chances of developing a disease, carrier statuses for inherited conditions and information about response to drugs. This is a fantastic advance, but do we really need it? 23andMe, one such DTC company, offers the service for just $99 (down from 2007’s price of $999) and advertises that users are able to “change what you can and manage what you can’t”. This sounds all very proactive, but what actions can you actually take from results?
There is not much that can be done to reduce the chances of developing diseases like Alzheimer’s disease, which is largely unaffected by environmental factors. We still do not fully understand the associations between genetic disposition and chances of developing a disease so it is still just a matter of “chance”. In this case, is the information really worth knowing? Another 23andMe also state you can “Arm your doctor with information on how you might respond to certain medications” – I’m pretty sure the NHS isn’t going to be too happy with patients picking and choosing medicines like a visit to the pick’n’mix.
Another issue is that there is currently no regulatory monitoring for these companies, nor is there needing for approval – the FDA are only required to approve kits sold for at home testing due to being held under the jurisdiction of “medical devices”. Could it be we should soon be worrying about “counterfeit” genetic testing – there is obviously big money to be made?
The future for genetic screening is unknown. The likelihood is it will become cheaper, easier, more accurate and more widely available – but is this really a good thing? Discussions are already arising regarding the implication of individuals knowing the information and where/to whom it will be available – for example genetic discrimination in both the workplace and for insurance is already being considered. The US is already legislating that health insurers cannot discriminate healthy people purely based on genetic predispositions in the Genetic Information Nondiscrimination Act, which also covers employers using the information when making hiring, firing or promotion decisions.
Just ten years ago, James Watson stated that once we had the genome sequenced, we would have the language of life. Was he off the mark, or is it that we simply don’t yet know how to understand that language? And for me? Let’s just say a 23andMe test may be going on my Christmas list – it would certainly make interesting talk around the dinner table (and a pretty good blog post!)