Message from the Director
Duke Personal Variome Project
Huntington F. Willard, PhD
I know less about my genome than you might expect. From my own undergraduate senior honor's thesis, I know I have 46 chromosomes, including an X and a Y. From my father, I know (or I think I know…) that we can trace the family genome to the late 1500's in southern England. My eyes are blue and my blood type A-positive. And somewhere in my 3 billion or so units of DNA, I think, lurks a nasty bit of code that gave me colon cancer eight years ago, as it did to my father before me and his father before him. That's all I know, but all that's about to change.
"Of all the promises about what's to come from our ever-increasing familiarity with the human genome and its global variation, surely the most eagerly awaited is personalized medicine."Of all the promises about what's to come from our ever-increasing familiarity with the human genome and its global variation, surely the most eagerly awaited is personalized medicine. And yet, for all the breathless pronouncements of what might be in store, most in the medical community have to admit that we are far from using informa- tion on personal genomes in this way. Not surprising, perhaps, to those who have followed other technology-driven changes in healthcare; the process is slow and measured by design as technology and innovation at the breaking edge of the wave are held back – even dragged back – by the medical community, regulatory agencies and the insurance industry.
What is surprising to many, though, is that the push to bring our genomes into clinical practice is coming as much or more from consumers as from professionals. Several companies are already offering genome-wide profiles direct to the public, some accompanied by risk estimates for various dis- eases. The investment community and media have responded rather positively to these offerings, largely ignoring loud "harrumphs" from experts who say it's too soon. It is clear that some among us, whatever their motivation, are ready to test their genomes.
What are they hoping to discover? Are they convinced that their genomes can foretell the future? Or do they just think it's kind of neat andthey want to be among the first in line? Will the information empower or unsettle them? Will they share it? With whom? Their spouse? Children? Neighbors? Doctors? Insurance companies?
We hope to find out. With the help of the Duke Blue Devil, we have just unveiled the Duke Personal Variome Project, designed to test a million "SNPs" in the genome (positions that show lots of individual variation) in Duke and Durham volunteers. The early stages will help us figure out how best to share this information with people, how to convey clear-cut results versus uncertain ones, and how to gauge individuals' responses to "seeing" their genomes for the first time. Some may want to parse every SNP and what it may or may not say about physical or personality traits, their medical past or future, or their family ancestry; some may choose to hide certain information, from themselves or from others. Some may change their minds altogether– what might have seemed like a nifty idea when they had their DNA collected may seem much less appealing with the envelope in hand. Pandora's box? Or a genie in the genome?
To be sure, the Duke Personal Variome Project is as much a social experiment as a scientific one, and we're fortunate to have a team of investigators who are experts both in the science and in its social and policy implications. The concept of Duke's IGSP came at the time of the original Human Genome Project, when the prospect of a reference genome sequence promised (or threatened) to change everything. But now – just a short few years later – it's real and it's getting personal.
But how can I ask others about their genomes or even pretend to comment on what it really means to know one, if I don't know mine? A fair point, and one I've thought about for years. So, in parallel with the Variome Project, I'm testing my own. What will my million SNPs tell me? Who will I tell? Will it be an epiphany or just another day in the lab?
I don't know, but all that's about to change.
Huntington F. Willard
Director