The Genome In Silico and the Future of Whole-Genome Sequencing
In my previous post summarizing last weekend’s conference on Genetics and Ethics in the 21st Century I briefly mentioned Professor John Robertson’s discussion of the “genome in silico.” Using Illumina’s recently announced $48,000 whole-genome sequencing service as an example, Robertson wondered whether the future of whole-genome sequencing lies in converting the genome to silicon storage (in silico) or whether on-demand sequencing of short genetic segments (or even whole genomes) will continue to be done as and when patients present with specific clinical conditions (in vivo). To put it another way, will the patient of the future present his doctor with the equivalent of Illumina’s concept iPhone app or Knome’s USB drive, or will she come prepared to undergo a more traditional blood draw or tissue biopsy.
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.
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Genomics and Personalized Medicine: Facts, Fiction, Future?
Over the weekend I took part in the 13th Conference on Genetics & Ethics in the 21st Century in Breckenridge, CO. The theme was “Genomics and Personalized Medicine, Facts, Fiction, Future?” Although the altitude (Breckenridge is at 9,600 ft) posed a problem for several participants, the conference otherwise went off without a hitch.
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.
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