Director’s Message January 2013

What a Difference a Decade Makes.

What a difference a decade makes… The world of the genome sciences – and the world touched by the genome sciences – could not appear more different this month than it did ten years ago.

In December 2002, we were just getting a glimpse of the mouse genome, the first mammalian genome to join our own, whose sequence had been released to great fanfare only two years before. The first papers on genetic variation in human populations were just beginning to appear, increasing awareness – at least from the standpoint of the genome’s digital printout – of ancestry and global diversity.

High-throughput approaches to pinpoint genes involved in common human diseases were still years away, and the concept of “personal” genomes was barely on the horizon; scientists were still pushing conventional sequencing methods to the limit to complete (however one defines it…) the reference human genome sequence in time to reach the conveniently declared and somewhat politically inspired finish line in April 2003, fifty years to the day since publication of the original Watson-Crick paper describing the structure of the double helix.

Now, a decade later, many hundreds of Duke students have already had their own genomes scanned, and people talk of personal genomes in the tens and even hundreds of thousands. Around the world, including here at Duke, patient genomes are sequenced in full to uncover mutations responsible for their illnesses, whether in the newborn nursery or in the oncology clinic. The debate – once focused on the value of genome sequencing at all – now centers on the reality of piecing together and interpreting the genomes of as yet unborn children early in pregnancy, isolating tiny amounts of fetal DNA that escape into the maternal blood circulation even in the first weeks after conception.

Here at Duke, a decade ago, the study of genomes and their application to understanding biology and medicine was confined to just a few labs in the IGSP that had the equipment, technology and know-how. But now, as illustrated in this issue of GenomeLIFE, ‘omics can be found all around Duke (or, we should say, the many Dukes):

  • in the medical center, in the French Family Science Center, throughout the life sciences, in Pratt and in Nicholas, in Beaufort and in Kannapolis, in Durham and in Singapore
  • in labs, in computational and informatic groups, and in classrooms with students from first-semester freshmen in Trinity and Pratt to doctoral,medical, law and nursing students
  • in research groups thoughtfully focused on policy, ethical, cultural and legal implications of the science all across campus, both in Durham and in DC.

And yet, not everything has changed. There is still enormous uncertainty about how best to store, analyze and share the vast amounts of sequence data (and other ‘omics data) that are now routinely collected, not just in a few large genome centers around the country, but in many dozens of individual labs even just here on the Duke campus. Once somewhat hypothetical concerns about privacy, self- and group identity, insurance coverage, patenting and genetic determinism remain, but now on the front lines and frequently on the front pages. The crowded intersection of science and society – including bioethics, the bioeconomy, culture, behavior, decision-making, identity, enhancement and autonomy, as well as public education and engagement – has only grown in scope, importance and urgency, not just in the genome sciences, but across the full spectrum of the sciences and the practice of medicine.

A decade ago, while packing my bags to move to Duke, I wrote of the Genome Revolution and why Duke was the right place to explore the issues – both in science and policy – that would be central to making a difference in this field and for society at large. I was right and wrong. Duke was and is very much the right place, but my characterization of what would transpire – a Revolution – was the wrong one. The word “revolution” connotes a takeover – not necessarily bloody, but generally quick! – a paradigm shift in how we think about science and how that science would impact the lives of, well, everyone. Viewed now ten years later, a better term might be “reformation” – literally “shaping again” – a word that coaxes us – as individuals and as society – to deliberately (although not necessarily any less urgently) explore the changes in life, self-awareness, health, and policy-making that must accompany the advances in technology, knowledge and innovation to come from this new science.

As this issue of GenomeLIFE illustrates, the turning of a decade for the IGSP indeed brings a very different dawn. The once future is now, but everything changes again: the next future beckons us all.

Huntington F. Willard, Director


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