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Earlier this week, 14 “genome pioneers”–a select group that have had their entire genomes sequenced–converged at the Microsoft conference center in Cambridge, MA, to share their experiences as early genomics adopters. The conference was billed as the last chance to gather everyone who has had their genome sequenced in one room; experts predict that as many as 1000 human genomes may be fully sequenced by the end of 2010. While Desmond Tutu and Glenn Close didn’t show (both have had their genomes sequenced), the others were gamely grilled onstage by Radiolabs Robert Krulwich. They shared their thoughts on why they sequenced their genomes and how they are using that information. (For more on the latter, see “Finding Meaning in Personal Genomes”.)

Here are some interesting tidbits from the conference.

Sequencing executives really like to have their genomes sequenced. They made up four of the 14 genome pioneers: Jay Flately, CEO of Illumina, Greg Lucier, CEO of Life Technologies, Stephen Quake, founder of Helicos (not technically an executive), and John West, former CEO of Solexa, which was bought by Illumina.

Sequencing is becoming a family affair. West has already had his wife and two kids sequenced, and Lucier plans to do the same. Harvard Professor Henry Louis Gates and his father became the first African Americans and father-son pair to have their genomes sequenced, sharing the results in Gates’s PBS documentary “Faces of America”. Sequencing families does have its advantages like allowing scientists to more easily distinguish true genetic variations from sequencing errors. (For a more medically oriented example of family genome sequencing, check out “Hunting Disease Origins with Whole-Genome Sequencing”.)

Insurance companies don’t want to see your genome. Entrepreneur Ester Dyson, who is training with Russian cosmonauts for a space flight, offered her genome sequence to the health insurance company that was certifying her life insurance. They declined. Health insurers are prohibited from discriminating against people based on their genetic make-up, and Dyson says liability concerns may have played a part. But Dyson points out that in the long run, health insurers efforts to promote preventative medicine will be hindered without access to patients’ genomes.

The genome pioneers are tired of talking about privacy issues. Krulwich probed a number of the participants about privacy concerns, such as whether a company would want to reveal potential health risks of a high-level executive. John West summed it up best: “Ester wants to be shot into space on a Russian rocket and you ask her about the risk of having her genome sequenced.”

Wives and mothers seem to be more cautious about publicly releasing their genomes. Seventeen year old Anne West, who presented her analysis of her family’s genomes at the conference, said her mother Judy is keeping her genome secret in order to protect her children’s privacy. (They share half of their mom’s genome and half of their dad’s–his will be made public.) Both Flatley and Quake said their wives don’t want to be sequenced. When I mentioned that apparent trend to Quake, he quipped, “they generally are the more sensible ones.”

Personal genome sequencing is still mostly the domain of white guys, at least outside the research arena. Of the 14 “genome pioneers” at the conference, three were women (including 17 year old Anne West.) One was Asian and one was African American. A number of African and Asian genomes have been sequenced, both privately and for research, as well as a handful of women, some for their breast cancer genomes.

Analyzing the genome is going to be much more difficult than sequencing it. That’s now a familiar refrain among the genomics community, and both researchers and startups are delving into this almost unknown territory. Quake recruited a team of physicians and scientists at Stanford to analyze his genome. (See Finding Meaning in Personal Genomes.) And West said that his family was shopping around for a company to interpret their genomes, since their personal efforts have only sorted through a gene or two in several months.

Some of the most interesting applications for genome sequencing lie beyond the human genome. Virus hunter Ian Lipkin described his efforts to use sequencing to track new pathogens emerging across the globe. And biologist Rob Knight described his efforts to catalog the diversity of the microbes that inhabit our skin, mouths and guts. He noted that differences in the human microbiome–our microbial inhabitants–seem to be much larger and easier to detect than the subtle differences in individual human genomes, and suggested targeting personalized medicine efforts at microbes. I hope to expand on these two projects in upcoming web stories, so stay tuned.

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Tagged: Biomedicine, genome, sequencing, personalized medicine

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