Friday, September 23, 2011
The first human genome sequenced was completed in 2003. Rather than completing a picture of human genetics, it spurred a desire to understand sequence variations in the human genome and their effects on health and disease. Although the cost of DNA sequencing was reduced more than 1,000 fold during the 13 year course of the human genome project, it was still much too high to sequence the thousands of human genomes necessary to begin understanding complex relationships between DNA sequence variation and health and disease. The high cost of the existing methods led some innovators – in government, academia and industry – to begin thinking about and developing new and much more powerful sequencing technology.

To spur the development of these methods, NIH through NHGRI in 2004 launched an innovative program with the goals of reducing sequencing costs 100 fold in five years and ultimately 10,000 fold. This would allow sequencing of complete human genomes for less than $1,000, make it possible to study rare variations and put within reach the use of whole genome sequencing as a practical tool of individualized medical care.

Five years later, as a result of intensive research and development stimulated by NIH’s modest investment in this program and substantial investments by several companies, the initial goal of driving costs below $100,000 was achieved. Sequencing a human genome, which in 2003 required 100 machines operating continuously for three months, could be done in 2008 on one machine in a month. And the community of academia, government and private institutions that achieved the initial goal is now on a path to bringing the cost down to less than $1,000 per genome – the ultimate goal of the program. Already, the cost of sequencing a human genome commercially is well below $10,000, and a new generation of sequencing technologies is entering the market that will further reduce costs.

This presentation will summarize the technologies that are used for high-throughput sequencing today, the staggering amounts of DNA sequence information they are providing, the novel biological insights scientists are obtaining from the data and the real clinical impact that DNA sequencing is having even now. Emerging and horizon technologies will be discussed that promise to provide DNA sequence information with the quality, rapidity, and cost required for optimal applications in research and medicine. And the presentation will highlight the key roles of all of the sectors in bringing these dramatic improvements about, particularly focusing on the role the NIH program plays in the functioning ecosystem of research, development and commerce that puts products in the marketplace and changes how we think about human health.

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