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.
Read the rest of this entry »
Knowing Thyself: Beyond the Human Genome Awaits the Human Microbiome
The fruits of the Human Genome Project (HGP), completed in 2003, have given scientists and researchers unparalleled insight into the structure and function of the human genome and ongoing research — such as the 1,000 Genomes Project and the Personal Genome Project — continue to refine our map of the human genome. But the human body is home to thriving microbial community where, by some estimates, human cells are outnumbered by microbial cells by a factor of ten to one.
In an attempt to gain a more complete understanding of the complexity of human microbial communities, in 2007 the NIH launched the Human Microbiome Project (HMP). The HMP’s goals include:
• Determining whether individuals share a core human microbiome
• Understanding whether changes in the human microbiome can be correlated with changes in human health
• Developing the new technological and bioinformatic tools needed to support these goals
• Addressing the ethical, legal and social implications raised by human microbiome research.
Last week, NIH awarded more than $42 million in grants through the HMP to “expand its exploration of how the trillions of microscopic organisms that live in or on our bodies affect our health.”
