Unravelling the human genome

April 1, 2010
Pharmaceutical Technology Europe

While sequencing a single human genome is a scientific curiosity, the scientific community needs to sequence thousands of complete genomes to obtain real transformational insights into the genetic basis of human disease, including cancer. Previously, human genome sequencing was simply too complex and expensive for scientists to carry out large-scale human disease studies; however, major capital investment is no longer required with the commercial scale sequencing service that Complete Genomics provides

While sequencing a single human genome is a scientific curiosity, the scientific community needs to sequence thousands of complete genomes to obtain real transformational insights into the genetic basis of human disease, including cancer. Previously, human genome sequencing was simply too complex and expensive for scientists to conduct large-scale human disease studies; however, major capital investment is no longer required with the commercial scale sequencing service that Complete Genomics provides. Thus, more and more data and insights into the genetic basis of disease will continue to become available.

We expect this research phase of human genome sequencing to last for a few years. By then, the medical research community will know enough about the genetic characteristics of specific diseases to be able to develop targeted diagnostics, including improved cancer diagnostics, personalised drug regimens, better treatment options and, ultimately, improve healthcare outcomes.

Why do sequencing costs keep falling?

The cost of complete human genome sequencing has decreased dramatically over the past two decades. The Human Genome Project sequenced the first human genome in 2000 for about $2 billion. Then, Dr J. Craig Venter and his team completed the first commercial company-sponsored sequencing of a human genome for about $100 million. Over the following 6 years, the cost of human genome sequencing dropped steadily in line with Moore’s Law, which states that performance doubles every 18 months. This is a natural progression as a technology, in this case capillary electrophoresis, gets steadily better through higher volumes and lower costs.

Then in 2006, the world changed; instead of sequencing costs coming down by a factor of two every 18 months, they began dropping by a factor of 10 every year. This dramatic transition was caused by two factors: the natural organic improvement of technology and the leapfrogging of a series of disconnected technologies over each other. Improvements in the seemingly disparate technologies were, in part, driven by the venture capital community looking at the relatively slow progress of human genome sequencing and identifying a market opportunity. This realisation resulted in the injection of approximately $1 billion of risk capital into improving the state-of-the-art sequencing technology, which led to a series of new companies entering the market.

Each technology is now, once again, following a Moore’s Law-like improvement cost curve. But the cost of consumables — the reagents, chemicals, and chips used in the sequencing process — continues to drop even faster; getting extremely close to zero. The cost of sequencing will continue to decrease until the price of consumables essentially reaches zero.

Eventually it will cost $1000 to sequence a complete human genome, but that is going to take a few years. We do, however, expect to be the first company to achieve that goal.

Where to next?

At Complete Genomics, we expect to sequence 1 million human genomes over the next few years with the creation of a network of 10 international genome centres. One million genomes equates to 1000 genomes in 1000 different diseases. Once these genome centres have sequenced one million genomes, the medical research community will have a greater understanding of the genetic basis of human disease, unlike any it has had in the past, leading to the development of better diagnostics and therapeutics that improve human health.

Based on a contribution by Dr Clifford Reid, Chairman, President and Chief Executive Officer of Complete Genomics.