Roll Up Your Sleeves: Human Genome Sequencing Begins
It has long been predicted that breakthroughs in genomics will foster an entirely new generation of pharmaceutical and biopharmaceutical therapies. Now, five and a half years after the Human Genome Project published the full sequence human genome, the first population-wide study to gather human genetic data is set to begin.
Yesterday, Complete Genomics, a commercial-scale sequencing center based in MountainView, California, was launched and quickly announced it was partnering with the Institute for Systems Biology (ISB, Seattle, WA) to begin the proof-of-concept phase of the project. According to a company press release, the project first involves the sequence of five samples provided by ISB, with plans to expand to sequencing the genomes of 100 individuals next year, and those of 2000 individuals in 2010. (Although several online reports are circulating about these numbers being ten times greater and that completed sequences will be sold at $5000 each, starting Q2 2009. PharmTech has not confirmed these claims with the companies).
Genomic sequencing hopes to unlock the answers to a vast range of questions surrounding diseases thought to be derived from both genetics and lifestyle. For example, in just the first few days of October, researchers announced studies to evaluate the link between the birthplace of Swedish women and the likelihood of developing ovarian cancer, the genes related to the risk of developing gout, the genomic understanding toward producing less-resistant antibiotics, and the genetics that might be associated with drug-treated weight-loss programs.
Of course, there we are far off from relating decoded genomes to drug therapies. But the industry has made significant steps in the past five years, and politics and ethics aside, is poised to take greater steps in the next five years.
This is not in any sense “the first population-wide study to gather human genetic data”.
The 1000 Genomes Project is currently generating very large amounts of human genetic data, and will ultimately produce rough genome sequence drafts for over 1,000 individuals from several populations (http://www.1000genomes.org/page.php).
Lower-resolution genetic data (looking at hundreds of thousands of genetic variants throughout the genome) has been collected by researchers for literally hundreds of thousands of individuals over the last two years, as part of “genome-wide association studies” looking for the genetic origins of common diseases.
Complete Genomics does have new and seemingly promising technology, but it’s unclear whether the company’s claims about the speed and cost of its platform will bear fruit (none of the data the company claims to have generated have been independently reviewed).
Although this is of unique kind of working on finding the actual & factual assemble of human genes but much is to be expolre to identify the ongoing mutation basics as well.
Daniel,
This is however the first population wide study to gather and perform a COMPLETELY SEQUENCED GENOME, not just a partial. There is a huge difference in what they are doing compared to what companies like Navigenics and 23andme,etc… are doing. The guys truly are on the forfront of Genomic Sequencing, The latest news I have heard is that they have sequenced 3 complete genomes already, all taking less than a week and for under $5000.00.