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From Best Practices to Navigenics


By Kevin Davies

Oct. 10, 2007 | In June 2005, a soft-spoken researcher from TGen (Translational Genome Research Institute) flew from Phoenix to Washington D.C. to accept a Bio•IT World Best Practices Award* for basic research. Dietrich Stephan was then head of the Neurogenomics division at TGen, searching for complex disease genes including autism and amyotrophic lateral sclerosis. The award recognized his team’s success in deploying new software to map a gene for sudden infant death syndrome.

We rather lost track of Stephan after that, but were delighted to learn this summer that our humble Best Practices winner had co-founded an exciting new consumer genomics company, Navigenics. Whereas 23andMe (see “23andMe,” Bio•IT World, June 2007), is laying low for now (co-founder Linda Avey will keynote Bio•IT World Expo in 2008), Stephan was only too happy to shed light on Navigenics’ mission**, and that he still proudly keeps his Best Practices trophy on his desk.

“The Holy Grail is to sequence the whole human genome, put it in a big computer, push a button and have a rank ordered list of disease predispositions pop out the back,” Stephan told me by phone. “The problem is we’ve never been enabled with the technology to resequence the genome in a cost-effective and accurate way. We still don’t have that ability. But we can look at common human diseases caused by common genetic variants floating around the population at large.”

Stephan began planning a company two years ago (perhaps buoyed by his Bio•IT World award) recognizing the rapidly improving capacity of SNP chips to conduct genomewide surveys. He was introduced to co-founder David Agus (director, Spielberg Family Center for Applied Proteomics, Los Angeles), who had similar ideas. “In a five-minute conversation on the phone, we had the same vision; we banded together,” recalls Stephan.

They secured funding from two leading VC firms, and began assembling experts in ethics, legal affairs, genetic counseling, science, and epidemiology. There is also an editorial team tasked with communicating delicate and sophisticated information to physicians and a lay audience.

SNP Service
Stephan says Navigenics will debut early next year using the new Affymetrix 6.0 chip, which contains 1 million SNPs. Eventually, the company will offer whole-genome sequencing. “We really see this as, at some point in your lifespan, everyone will get their genome sequenced and get risk mitigation. [Think of it as] newborn screening for adults.” As for potential sequencing partners, he says, “no one knows which technology will win... We’ll wait for the technology to stabilize.”

But Stephan is adamant that whole-genome sequencing will offer much more information than a catalogue of SNPs. He points to recent findings in prostate cancer and heart disease, where disease loci were tracked to regions bereft of genes. “If you just sequence annotated regions, you’re not going to get all the [medical] information,” he says. Take autism: “We currently think autism is caused by private mutations and we haven’t found a whole-genome association signal to date. So autism might be teased out using a sequencing strategy rather than a genotyping strategy.”

Stephan has tested himself, of course. He does not carry an Alzheimer’s-associated ApoE4 allele, but does carry some breast cancer predisposing mutations, which coupled with his family history, “might [require me] to get a checkup.” In all, Navigenics will be launching for 20 conditions, using “a very intuitive dashboard” to communicate health risks based on genotype and advice for managing health proactively. Says Stephan: “It will encompass lots of information, supported in specific ways, taking into account average lifetime risk, how you’re loaded relative to the general population, age of onset, a number of different nuances.”

After conversations with 23andMe co-founders Anne Wojcicki and Linda Avey, Stephan views the two new companies as very complementary: “Navigenics is focused squarely on medical risk assessment on actionable conditions. 23andMe is focused on ancestry genealogy and that’s going to be their space.” Probably not for long, however. Jay Flatley, CEO of 23andMe’s genotyping partner, Illumina, told analysts last month, “I can say that [23andMe is] going to be focused ... on the medical aspects of genotyping,” although the early emphasis will be more on genealogy.
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*          Bio•IT World’s Best Practices Awards are back. Learn more.
**        Read the full interview with Dietrich Stephan.

Email Kevin Davies.

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