By Chris Crockford
When in 2010 I had my DNA sequenced, my friends were aghast, “Why would you want to know” some asked? “Because I can” I replied. I had just returned from the west coast of the US where I had been at a conference on mobile health and personalized medicine. In 2009 many voices in the medical industry had suggested that by the end of the following year the average price charged by companies for a complete human DNA sequence would be around US$500. Earlier this year the National Human Genome Research Institute, part of the US National Institute of Health, compiled data on the costs of sequencing DNA over the past decade and showed that not only are sequencing costs plummeting, they are outstripping the exponential curves of Moore’s Law, and by a big margin. When I look around today I can find sequencing starting at US$99.
Personally my sequencing revealed an exceptionally high tendency for Deep Vein Thrombosis (DVT), almost eight times the average likelihood if you believe the science. I mentioned this in passing to a clinical friend who recommended that there were some blood tests I could have done to confirm my clotting situation. Armed with this knowledge I immediately headed to see my physician and asked for these tests to be done. Eventually after some haggling with the NHS, I undertook the tests and I was diagnosed as being FactorV Leiden Homozygous. This sounded dreadful, but some research revealed I had a one in 100 clotting disorder which I had inherited from both my parents. I did some further tests and promised myself that I would make a little more effort to keep an eye on my cholesterol in future.
Some people branded me a hypochondriac, and some (my physician for one) accused me of being one of the “worried well”. The UK’s NHS puts the cost of the worried well seeking facetime with clinicians at £2 billion a year, but this is mainly attributed to people with coughs and colds clogging up the system, not people with their own DNA sequence. Empowering patients to selftreat themselves for these ailments, for instance through mobile health technologies, could provide substantial savings without the reduction in service the NHS claims, but surely the root cause of this is a lack of education? Better triaging and/or the use of telemedicine could also reduce the patients who should be self caring.
I disagree that I am one of the worried well as I believe that I am one of the informed. I am not going to hang off every word of my DNA sequence, or live my life differently because of it. That said I will ensure I exercise more on longhaul flights, and I might just check my cholesterol every 6 months.
Now not everyone is going to have their own DNA sequenced like me. But science will increasingly make a greater amount of information available to us all. Should we not act on it? I think we should. Mobile technology is part of bridging the gap between greater insight and sometimes limited resources in health services. There is a growing imbalance between increasingly educated patients with knowledge and the abiltiy of medical services, usually state-funded, to meet those expectations. A range of mobile services can assist and luckily many of the most inquisitive patients are also the most technologically literate.
I believe that the use of genetic information has the potential to provide medical professionals and eventually individuals with a whole array of life-impacting information which will prove vital to some and confuse others.
Eventually people may just change their diet based on their genetic make-up to include foodstuffs that give you the best health performance, but until that day I will still be tucking into my favourite burger but just don’t ask me to stay seated during my next longhaul flight.
The editorial views expressed in this article are solely those of the author(s) and will not necessarily reflect the views of the GSMA, its Members or Associate Members.