A biotech startup company, Complete Genomics, claims that it is able to decipher the human genome for $5,000 – just one-twentieth of the current price tag of around $100,000. Such a price drop would make high-resolution genetic scans available to relatively low-budget laboratories and reshape the questions that scientists can ask.
The test hasn’t yet been independently validated but scientists say the deal appears to be real – especially considering the eminent scientists associated with the company. The Scientific Director of the new company is Radoje Drmanac, a Human Genome Project group leader and its advisors include George Church, a Harvard University geneticist who was responsible for the first commercial genome sequence; Leroy Hood, President of the Institute for Systems Biology and Douglas Lauffenburger, a Massachusetts Institute of Technology bioengineer.
Until now, the cost and difficulty of sequencing genomes has forced medical geneticists to take a painstaking and limited approach to their work, necessarily looking only at a few genes or mutations. If the cost of a genome is just $5,000, the consequences would be enormous. Human genetic research, which is now focused on just a few genomic regions, and ignores types of variation that can’t easily be measured, would be able to assume its full form.
"It’s going to change again how we think about approaching biomedical research," said Jackson Laboratory genome informaticist Carol Bult, who called the implications "breathtaking."