Affordable individual DNA sequencing?

April 14^th 2003 marked the end of the first Human Genome project, at a cost of 2.7 Billion US dollars, and for the first time completely transcribed a whole human DNA code. In 2007 it can be officially achieved for 1 million as it was earlier this year for Jim Watson, (of the original Crick and Watson team that constructed the first precise structure of DNA in 1953), by the 454 Life Sciences group.

On 15^th August this year the National Human Genome Institute of Health (NHGRI) assigned over 15 million in research grants. Their goal; to achieve complete individual DNA sequencing for under $1000 a pop, and that means DNA sequencing for all. A long imagined genetic revolution is irrevocably upon us and DNA sequencing will bring widespread change to the very fabric of our global society.

“If you can make a good soufflé, you can sequence DNA…Without a lab and for just a few hundred dollars, you can contract or outsource almost all the steps,” -Dr Hugh Rienhoff

Where there is a will there is a way, as Dr Hugh Rienhoff discovered when his daughter was born with an unrecognised ailment that prevented normal muscle development. After numerous visits to countless specialists, her condition remained undiagnosed and therefore untreatable. Now Dr Rienhoff happened to be a clinical geneticist and he suspected that her condition could be a genetic one.

By selecting a specific range of his daughter’s genome, he was able to sequence it and discovered a similarity to Beals syndrome, a rare genetic disorder. Based upon this information, together with other specialists an ongoing treatment was enabled and employed for his daughter. This brought an end to over three years of parental anguish and torment, and ensured a better quality of life and future for his daughter.

"Innovative sequencing technologies are critical to our efforts to move advances in genomic knowledge into the clinic. The era of personalized medicine will demand more efficient and cost-effective approaches to DNA sequencing," -Francis S. Collins, NHGRI Director

And this is the really positive side of DNA sequencing, just like it aided Dr Rienhoff so it can aid us all. Through DNA sequencing and the continual daily discoveries of what that sequence actually does. Gene by gene est. 25,000 and base pair by base pair est. 3 million. For the first time in the history of allopathic medicine, completely individual treatments can be specifically developed and employed, like trout fly fishing instead of throwing a stick of dynamite into the stream. If you could have your child’s DNA sequenced and possibly prevent a specific pre-disposition towards certain major conditions, would it not be the parentally responsible thing to do. DNA sequencing unfolds a world of new health possibilities that grows larger with each new discovery. It can only be a matter of time before individual sequencing becomes as normal as vaccinations, but like all technologies there is a down side to knowing your specific individual DNA sequence.

Personally I detest fear based industries, and consider Insurance to be one of the biggest. But I have no choice in a society condones and enforces the prevention of crucial timely medical treatment of my family and I without paid up Insurance. That being said, it is actually the Insurance companies that are most under threat from mass DNA sequencing. If I am lucky and my DNA sequencing reveals no major genetic pre-dispositions then most certainly I would not pay to cover those eventualities. On the other hand if I do discover any pre-dispositions and my insurance company has no way of knowing this information. I would be sorely tempted to take out large policies in those areas with the knowledge of their likely inevitability.

And this is the quandary Insurance companies will find themselves in, massive loss of clients who know they are going to stay healthy, and massive gains in those who know they are not, and will successfully claim against their policies when they do develop the condition. It’s a lose, lose situation for an industry which primarily makes profits off unclaimed policies and the claims they can deny. All depending of course on the fact that they do not have legal access to that information, and this is where the darker side of DNA sequencing emerges.

Genetic Privacy; or the right of an individual not to disclose their individual DNA code to anyone that might abuse such knowledge to the detriment of the individual. This is a big issue and does open a can of worms, with far reaching implications. The biggest of them being discrimination based upon that information, at present I believe such information would fall under the privacy of your medical records. But medical records or at least an independent physical examination is required by Insurance companies, as with many companies to simply gain employment.

If DNA sequencing became required under the medical banner, they would have complete access to an ongoing discovery of your individual pre-disposition to wide range of physical and mental conditions. This information would undoubtedly affect how you are viewed and possibly if you are employed or insured at all. But like the countless dormant viruses in the average body, these DNA sequences can only show a propensity toward such conditions, it is not entirely predictable whether they will manifest or not. Inherited ailments often require a specific set of conditions in order for that specific condition to manifest and actually become a problem. So effectively one would be discriminated by what could happen rather that what does actually happen.

Another side of Genetic Privacy is if everyone does not allow their genetic code to be accessed by scientists and utilised in broad pattern research. It could bottle neck the progress in our understanding of this vast new landscape of the genome. A can of worms indeed, one that needs to be thoroughly up ended and carefully considered.

"Within the next few years the field is going to go from one-dimensional profiling to a multidimensional view, offering a richer picture of what's really happening in the cell." -Kevin Meldrum Agilent Technologies

The Genetic Revolution is here and soon to be mass marketed to a doctor near you. The whole field of genetics is already a yearly multi-billion dollar industry, with the rapid improvement in DNA sequencing accuracy and speed it can only go up. This means that more time and therefore more money is being invested to see real life applicable uses of this technology. Ultimately this means that genetic specific treatments will soon become an intrinsic part of our global society much like vaccinations or the Internet. For those of you still questioning whether we should be doing this at all, e.g. stem cell research. That question has been silently answered, and perhaps you should start thinking about the realities of this Brave New World we are already in, and what it could mean for you and your children. It is now that we lay the down the blueprints of the positive and negative in this new technology, we must seek the humanitarian path to both ensure and benefit our future generations survival and better quality of life.