Monday, 23 April 2012

Who (if anyone) will be remembered in the race for the $1000 genome?

A journey back in time 
This week 59 years ago, the race to elucidate the structure of DNA was officially classed as won with the publication of James Watson and Francis Crick's "A Structure for Deoxyribose Nucleic Acid" in the journal Nature.
The discovery of the double helix was a landmark in modern science and paved the way for many of the techniques and abilities we now take for granted.  Since 1953, the names Watson and Crick have become synonymous with DNA and genetics.  In fact, if quizzed on who discovered the double-helix, many would offer only these two oft-repeated names.

Neglected heroes
Fewer would be aware of two manuscripts penned by Maurice Wilkins and Rosalind Franklin, which appeared in the same issue of Nature and contained the results of X-ray diffraction experiments that played a major role in revealing the structure of DNA to Crick and Watson.  At the time of publication, the contributions of Franklin and Wilkins were downplayed but in subsequent years were acknowledged and saw Wilkins share the victory of the Nobel prize in Physiology or Medicine in 1962.  Franklin only missed out because of her untimely death from cancer and the fact that the prize could not be awarded posthumously.

The final elucidation of the structure also benefited from knowledge accumulated from years of pioneering science on both sides of the Atlantic.  It is unlikely that Watson and Crick would have arrived at their final conclusions if it had not been for their emulation of Linus Pauling's model-building or Erwin Chargaff's discovery of the fact that purines and pyrimidines exist within DNA in equal proportions.  Work like that of Avery, Hershey and Chase no doubt helped to steer research in the direction of DNA and away from the proteins that many believed must be the units of heredity.  The list of those whose work contributed to the final discovery is a long one and well documented elsewhere.

To the victors the spoils
There can be no question of Watson and Crick's own contributions however.  All science builds on the work of others to some degree and we would not know of them today if it had not been for their own passion, tenacity and scientific flair.  The point here is that there will always be winners and then there will be contributors.  Only one of the two will achieve true glory and be awarded by synonymy with their achievement.  The rest will be demoted from headlines and similarly from the memories of most laypersons.

And onto 2012...
Today in the field of genetics and genomics we speak often of another race - the race for the $1000 genome.  Over the course of the past six decades the face of scientific research has changed immeasurably.  Technology has progressed at bewildering pace and scientific research has become increasingly associated with commercial industry.  If asked who I believe to be the competitors for the $1000 genome, I would answer Illumina and Life TechnologiesOxford Nanopore have caused a buzz with promises of their technology's capabilities but in the absence of public data or full commercial launch I would elect to keep them off my list for now.  I will gladly be proved wrong.  Regardless, it is inevitable that - just as with Watson and Crick - the winners may be remembered, but the many contributors along the way will most likely find themselves in the footnotes.

The invisible (wo)men
One point I wish to make here is that my list of competitors consists of companies rather than individuals.  Even as someone working in science I increasingly find myself linking scientific progress with the names of corporate groups rather than those of scientific researchers.  Gone are the quaint mental images of eccentric gents in white coats toiling for personal glory in university labs.  In their place is an image of ... well... not much really.  The contributions of individuals appear to be lost in corporate smog leaving us to associate the scientific advances with company logos and occasionally a CEO with a love of the limelight.  The concept of companies jostling for marketplace superiority lacks most of the charm of of the Watson and Crick story.

A leap forward?
The other point is the question of whether this particular race will actually produce a memorable winner.  The story of the race for DNA cumulated in one of the most dramatically consequential discoveries of scientific history.  The $1000 genome is a human concept - simultaneously an incentive for development and a yardstick to mark progress.  Furthermore rather than requiring seminal thought or actual discovery, it is something that can likely occur as part of the natural momentum of current technologies.  The real benefits of a $1000 genome versus a $2000 genome or even current costs are difficult to quantify.  Let us not forget that even a $1000 genome is out of reach to many on the planet.

True advances
The reagent-less genome or the $1 genome on the other hand may mark the point where sequencing really is available to everyone, everywhere.  Developments like these will require true discovery and produce benefits regardless of social class and geographic location.  This would mean genome sequencing without wealth or adequate insurance and provide every human on the planet with the right to benefit from the information locked within their own genetic code.  This would represent a true landmark and produce a story our grandchildren learn about from textbooks just as we learned about the double-helix.

Who knows?  Perhaps the story will even feature a protagonist rather than a corporation.


  1. Hey, Gavin. As the '$1000 genome' is a completely arbitrary (and surprisingly ill-defined) point on the cost curve, I suspect this will be a 'non-event'. The advantage that the 'human genome project' had was a judge stepping in (the US government) to declare joint winners. I doubt you'll see something similar for this race. Various companies/individuals will start claiming they've reached the goal (as some already have), but none will likely rise to the position of 'obvious winner'. Just my two cents.

  2. I pretty much agree Shawn. Looking back at my article I'm wondering how I managed to finish it without using the word arbitrary :) Even with all the corporate smoke and mirrors I think someone will become the popular public choice for title of winner but it will be short lived glory and we'll soon be onto hyping the next milestone. Hopfully it will be a better defined and more meaningful one than the $1000 genome!