Following Illumina’s announcement at the Consumer Genetics Show, Daniel MacArthur at Genetic Future speculated that Illumina, in focusing “on the sequence generation side…[was] restricting itself to the least attractive segment of the personal genomics market.” And I agreed, arguing that the bioinformatics portion of the genome sequencing market — interpreting and functionalizing raw sequence data — appeared to be both larger and less well-developed, thus presenting a more promising commercial opportunity.

If there’s anybody who should know where the future commercial value of whole-genome sequencing resides it is Jorge Conde, CEO of Knome, the only commercial genomics company (at this time) that will both sequence and interpret an entire genome. In a recent article by Emily Singer in MIT’s Technology Review, Conde weighed in on the future of whole-genome sequencing:

Analysis of the meaning of the human genome is proving to be more much more complicated than the sequencing itself. “In the long-term, that will be a big driver of value,” says Conde. “We will see the high price point go away, and the real value for both individuals and companies will be to provide an ongoing narrative.”

Although some companies (Complete Genomics) and research (the Human Microbiome Project) have focused on sequencing projects that look beyond the human genome, I continue to believe that the bioinformatics and interpretive components of whole-genome sequencing services are likely to be the key drivers of value for both consumers and companies as the industry develops. After all, no matter where and how often sequencing occurs, it’s only as useful as the interpretation afforded it.

But even as the interpretation of genomes inevitably improves, the question remains whether that interpretation will be performed on genomic data that reaches the clinic in silico or in vivo. The standard story of personal genomics is that a few years hence, once the cost has dropped to $1,000 (or lower), genomic sequencing will become a once-in-a-lifetime event, with the genome in silico taking its rightful place in the typical patient’s (electronic) health record. Yet after my conversations at Breckenridge this weekend — along with last week’s announcement by scientists at McGill University that suggests the genetic sequence may vary between an individual’s blood and tissue cells — I’m wondering if it’s time to reexamine the inevitability of the genome in silico and to consider the possibility that, even in an age of personal genomics and personalized medicine, patients may continue to carry their genomic sequences into the doctor’s office the old-fashioned way: under their skin.

The program kicked off with a focus on the state of genetic and genomic knowledge with an excellent talk by Richard Gibbs of Baylor’s Human Genome Sequencing Center, who provided a progress report on the 1000 Genomes project and predictions for the future of large-scale genomics research. Penn State’s Kenneth Weiss followed with “Genetic Causation: A Fermi Problem” and presented a compelling challenge to the received wisdom of genetic heritability. Some of the most interesting discussion was driven by a question posed to Richard Gibbs: whether there are instances where the ethical, legal and social discourse surrounding genetics and genomics has either failed to keep pace with, or outstripped, the progress of science. Beyond a general consensus that Gattaca-style genetic prediction lies far beyond the horizon (if it will ever be possible), Gibbs seemed to think that on the whole the ELSI discussion was often out in front of the science, but not by an inappropriate distance. This topic provided fodder for considerable debate throughout the remainder of the conference.

The remainder of Friday was devoted to breakout sessions, where much of the focus was on the DTC genomics industry. A team of researchers led by Michelle McGowan of Case Western’s Center for Genetic Research Ethics & Law presented preliminary findings from their survey of motivations and attitudes of early-adopters of personal genome services from 23andMe, Navigenics and deCODEme. Although the findings aren’t yet in print, the preliminary results were fascinating, and the addition of empirical data to the typically speculative discussion of just who uses these services, and why, will be a large step forward when it arrives. Also presenting was the always insightful Misha Angrist of Duke’s Institute for Genome Sciences & Policy (and GenomeBoy and PGP-10 fame) with “It’s My Party and I’ll Spit if I want to: DTC Genomics Without Tears,” which highlighted the frustrations with the then-existing genotyping services and research that served as the impetus for several of the DTC genomics companies founders and examined the benefits and limits of those services as they stand today.

Saturday focused generally on ethical, legal and social issues associated with large scale genomic research and biobanking initiatives. It began with a talk by Major Catherine M. With, legal counsel at the Armed Forces Institute of Pathology, and was followed by yours truly discussing strategies for “Enabling Responsible Public Genomics” (slides). Other highlights included a panel presentation from the team at Case Western (Aaron Goldenberg, Stuart Youngner, Michelle McGowan and Eric Juengst) which looked at issues associated with a form of “mission creep” in biomedical research: the trend of using samples from non-traditional biobanks — including newborn blood spots (Goldenberg), cadaver organs and tissue (Youngner) and embryos (McGowan) — for genetic and genomic research. Eric Juengst wrapped up the panel by casting a critical eye at arguments suggesting that there is a social or moral obligation to participate in genomic research.

One of the last talks of the conference came from John Robertson of the University of Texas School of Law who tackled the ethical and legal issues associated with the anticipated arrival of the $1,000 genome. Robertson tackled a range of interesting topics, including the role of the physician in mediating the transfer and translation of genome sequence data to consumers/patients (Robertson suggested “apomediation” as the likely and logical role, which should appeal to the Gene Sherpa) and the importance of consent in genotyping or sequencing minors and embryos.

Of particular interest was Professor Robertson’s discussion of the “genome in silico”: that is, whether the patients of the future will arrive at the doctor’s office with their genomes in silico or in vivo. I’ll follow up later today with a separate post summarizing my thoughts on that specific issue.