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GET Conference Celebrates Genome Pioneers

Guest of honor Watson likens sequencing to motherhood: just do it!

By Kevin Davies

May 18, 2010 | CAMBRIDGE, Mass.—In the end, there was no sign of Craig Venter, Archbishop Desmond Tutu, or Glenn Close, thwarting long-shot hopes to gather, for the first and presumably last time, the vast majority of named individuals who have had their genomes fully sequenced.

But the inaugural GET (Genes, Environments, Traits) Conference*, the brainchild of Harvard Medical School’s George Church, still brought together a dozen of the charter members of the whole-genome club, including scientists Jim Watson, Jim Lupski, Stephen Quake, and Seong-Jong Kim; CEOs Jay Flatley (Illumina) and Greg Lucier (Life Technologies); Personal Genome Project volunteers Misha Angrist, Rosalynn Gill, Esther Dyson, Kirk Maxey and Church; Harvard professor and filmmaker Henry Louis “Skip” Gates; venture capitalist Hermann Hauser; and John West and his preternaturally poised 11th-grade daughter Anne.

The guest of honor was Jim Watson, the first person sequenced using next-gen sequencing. Watson wanted to see 100,000 people sequenced as soon as possible, even though interpreting the data would be expensive. “We’ll need that [data] to search for the pathways,” he said. “It’ll be like motherhood – just do it!” Watson, whose son suffers from bipolar disorder, spoke about the burden of such illness. “Living with mental diseases, as I do, it’s not easy… You just want to do something about it.”

The widespread adoption of whole-genome sequencing was inevitable, said Illumina CEO Jay Flatley, who is offering a personal genome sequencing service at $48,000. “We talk about privacy, ethics, bad things etc. We need to get far enough along where we tip the balance, where the advantages [of sequencing] are so overpowering the risks of sequencing become minor in comparison.”

Flatley said that organizations promoting “the $1000 genome” aren’t including bioinformatics or sample preparation costs. “Those become the dominant costs as the cost of sequencing comes down,” he said. As for the future of his company in the face of rapidly falling prices, Flatley said: “As the price gets to zero, we’ll worry a bit more.”

Flatley added that Illumina’s prototype iPhone app for personal genome analysis is now an iPad app, which could one day be used to share information with a physician or pharmacist, or other people. It is not yet available. “We want to get it right before we put it in the app store,” he said.

Life Technologies Greg Lucier said his company was very concerned about the ability of the health care profession to handle genomic data. Life has awarded large grants to two investigators, including The Scripps Research Institute’s Eric Topol, to develop certification programs for doctors and explore new approaches to medicine using next-gen sequencing. “You need to automate the knowledge,” said Lucier. “I expect [to see] the rise of the [genomic physician] sub-specialty, like radiology.”

Esther Dyson, who sits on the board of 23andMe, said the consumer genomics pioneer saw a huge spike in orders on DNA Day (April 23), or as she called it, “23 day,” when the firm slashed the price of its DNA kits to just $99 for 24 hours. “We’re ten years away from having every baby sequenced and [the data] becoming part of the electronic medical record. The utility is going to become unquestioned in the next few years.” Dyson predicted that in 2-3 years, whole-genome sequencing would be commonplace. “We [23andMe] won’t be doing SNPs. Why bother?”

Another highlight was the presentation by Anne West, the 17-year-old daughter of former Solexa CEO John West, who paid to have his entire family sequenced, prompted in part after suffering an embolism a few years ago. West said she had been using Microsoft Excel to map her meiosis recombination breakpoints to a fine resolution. She said she would think about publishing her sequence when she turns 21, but among her more immediate priorities was to “finish 11th grade.” •

*GET (Genes, Environment, Traits) Conference: Cambridge, Mass., April 27, 2010.

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

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