Genome Mapping: A Life-Saving Reality

In my mind, when the names Watson and Crick come up in casual conversation (as they do for so many of us), an image of a three-dimensional double helix rotating slowly in front of my eyes immediately comes to mind. Regardless of your own reaction to the mentioning of these famous Cambridge scientists, their discovery of the structure of DNA completely revolutionised a diverse range of scientific fields to a degree that not even those two pioneers in the lab could have predicted. Not least of those affected is the field of genomics, which applies techniques from genetics and molecular biology to complete genome “maps” of organisms.

Perhaps the most famous of these genome-mapping projects was the Human Genome Project. Although this name sounds like a really cool band, this project brought together scientists from the Department of Energy and National Institutes of Health in the US, the Wellcome Trust in the UK, and other major partners across Japan, Germany, France, China, and many other countries to map the human genome for the first time in recorded (and unrecorded, as far as we know) history. The product of this collaboration has had a huge influence on the medical health industry as the field of personalised medicine has picked up momentum at an unprecedented rate. This new age of medicine brings with it answers to some of the life sciences greatest mysteries, but is also accompanied by even more questions.

First of all, where are we in the trajectory from lab to marketplace for making this technology available to the general public? Carol Cadwalladr, a features writer for the Observer, put this into perspective for me by recalling a conversation she had with Bonnie LeRoy, a professor in genetic counselling, who she met at Illumina’s “Understanding Your Genome” event last fall. Dr. Leroy astutely compared our position in the field of human genomics in medicine at the current time to when man first landed on the moon – “It’s like the moon landings, right? It feels like we just landed on the moon.” Doesn’t everybody remember that? I certainly remember my parents recounting their stories about where they were and how they felt. That was a big deal, wasn’t it? And yet somehow, people do not know seem to be as aware of this equally revolutionary discovery and the implications is has on the future of medicine. I think it’s time to change that because, as David Cameron put it, this genome-mapping technology could become “a potentially life-saving reality.” I cannot emphasize this enough.

Fortunately, this work is being recognized in the UK. Just last year, the UK Government committed an initial £100m for a project aiming to map the genetic makeup of 100,000 people in England in the first stage of a public health programme. The Government is hoping this project will help in revolutionising the treatment and prevention of cancer and many other diseases. This project, in large part, has been made possible by the rapidly decreasing price of a genome map. For the small price of $5,000, one can find out if he or she is pre-disposed to adult onset diabetes or likely to have a negative reaction while under anaesthetic. Compare that to the original price tag of $2.7 billion – that makes the price 2 one-millionths of what it used to be!  With support from the top of the government, the UK is angling to become the world leader in the practical applications of DNA mapping. David Cameron summarised the UK’s ambitions succinctly by stating that “by unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs, and above all better care.” Challenge accepted.