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A Grand Vision for Genomic Medicine

By Kevin Davies

September 28, 2010 | First Base
| One day back in 2001, not long after the publication of my book Cracking the Genome, I received a telephone call from an alumnus of Harvard Business School inviting me to give a talk at his upcoming class reunion. I was curious where he had found my name. “I was in my local bookstore browsing the piles of new books on display for some speaker ideas, and I came across this fascinating book about the Human Genome Project and where it will take us.”

“Well thank you very much, I’m flattered,” I replied.

“Oh no,” he said, “that wasn’t your book. That was Genome, by Matt Ridley. But I did spot one copy of your book next to it.”

With an introduction like that, what choice did I have but to accept?! (When I recounted that story to Ridley, his reaction was: “Ouch!”)

My working title for that book was The Sequence, which not only accurately portrayed the central character but also—shades of The Matrix—conveyed I thought the slightly more sinister side of genomic knowledge. But one day after signing the publishing contract, I received a call from my Australian editor who said my preferred title simply wouldn’t work. My protests were to no avail. “It’s too abstract, mate,” he said. “The American audience will never understand it.”

In retrospect, he was probably right, although the result was that publishers in other countries didn’t know whether to translate the original title (Die Sequenz), follow the American lead (Decifrando o genoma) or dumb it down even further (Den Mänskliga Koden).

Should my new book, The $1,000 Genome, be translated into foreign tongues, I’ll be curious to see if the publishers stick with the title or decide to play with it (The 45,000 Rupee Genome? The 83,970 Yen Genome?)

I first remember hearing the catchphrase in late 2002, when Craig Venter and Gerry Rubin co-hosted a sort of scientific America’s Got Talent showcase for six exciting new sequencing technologies at a symposium in Boston. My former colleague Mark Uehling covered the session in Bio•IT World (see “Wanted: The $1000 Genome,” Bio•IT World Nov 2002).

The highlight that evening wasn’t the offerings of Solexa or 454 Life Sciences, which reached the market a few years later, or VisiGen, which still might under the Life Technologies logo. Rather it was Eugene Chan, a Harvard Medical School drop-out who stunned the audience with a video of linearized DNA molecules and promised a 60-minute human genome within a few years. Those plans did not materialize, but Eugene (an M.D. finally) was one of the first people I looked up when I began working on the book three years ago.

Sequencing and Interpretation

In a way, the idea of writing The $1,000 Genome began to coalesce in my head during Venter’s symposium, but it didn’t truly take shape until 2007. That’s when Jim Watson became the first person to have his genome decoded using next-gen sequencing; and when personal genomics took flight in the form of 23andMe and others. The prospect of being able to sequence personal genomes routinely and affordably, coupled with the channels to deliver information to anybody about their genetic traits and disease risks, was a watershed moment that I, for one, never saw coming ten years ago during the hoopla around the Human Genome Project.

Ideally, I would have liked to have had more time to reflect on the sudden scrutiny being leveled at the consumer genomics industry by Congress and the Food and Drug Administration, as well as to cover the imminent launches of several exciting 3rd-generation sequencing companies. Alas, these potential DNA sequencing pioneers typically make one sign NDAs upon crossing the threshold.

We have dedicated this issue of Bio•IT World to exploring many of the issues and problems raised in the book. Chief among them is the dilemma raised by Bruce Korf, the president of the American College of Medical Genetics, who says, “We are close to having a $1,000 genome sequence, but this may be accompanied by a $1 million interpretation.” Let us sincerely hope not! We thank the many organizations who granted us access and time to some of the hotbeds in the $1,000 genome revolution, not least Alex Wong and his colleagues at BGI Hong Kong, who hosted Bio•IT World managing editor Allison Proffitt’s fascinating visit to the world’s largest genome center in waiting (page 44).

Through all this reporting, it is hard not to come away thinking that the $1,000 genome becomes less and less important the closer we get to it. As the costs continue to fall, the issues surrounding how to handle and interpret the data, whether for research or clinical purposes, are growing in importance and urgency.

This article also appeared in the September-October 2010 issue of Bio-IT World Magazine. Subscriptions are free for qualifying individuals. Apply today.


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