The achievement is even more spectacular when in 2003 - just five years ago - the government-backed Human Genome Project, after 13 years of work, produced the first real data of a human genetic code for $300m. Applied Bio's accomplishment is encouraging news for scientists, who'll take any cheaper alternative to this process that may well yield a greater understanding of human genetic variation and the differences in individual susceptibility and response to treatment for disease - the goal of personalised medicine. Personalised medicine is closer to reality now more than ever. As well as predisposition tests, the use of genetic information to prescribe drugs, or combinations of drugs, would be used to treat a patient's disease more effectively. Several marketed drugs already come with companion diagnostic test to check a patient is suitable to receive the drug, for example Genetech's Herceptin (trastuzumab).
GlaxoSmithKline also has a genetic test to go with one of its HIV drugs to check the patient won't get a specific side effect. AB said it had been able to analyse the human genome sequence for a cost of less than $60,000, which is the commercial price for all required reagents needed to complete the project. Using the company's SOLiD System, researchers used the system's capabilities to obtain deep sequence coverage of the genome of an anonymous African male of the Yoruba people of Ibadan, Nigeria, who participated in the International HapMap Project. The system generated 36 gigabases of sequence data in 7 runs of the system, achieving throughput up to 9 gigabases per run, which is the highest throughput reported by any of the providers of DNA sequencing technology.
The 36 gigabases includes DNA sequence data generated from covering the contents of the human genome more than 12 times, which helped the scientists to determine the precise order of DNA bases and to confidently identify the millions of single-base variations (SNPs) present in a human genome. The team also analysed the areas of the human genome that contain the structural variation between individuals. These regions of structural variation were revealed by greater than 100-fold physical coverage, which shows positions of larger segments of the genome that may vary relative to the human reference genome. "We believe this project validates the promise of next-generation sequencing technologies, which is to lower the cost and increase the speed and accuracy of analysing human genomic information," said Kevin McKernan, Applied Bio's senior director of scientific operations. "With each technological milestone, we are moving closer to realising the promise of personalised medicine."
Next-generation sequencing platforms have enabled researchers to generate more genetic data than ever before. As AB's end-to-end next-generation genetic analysis SOLiD System ups the ante considerably it will be interesting to see how its competitors, Illumina and Roche, will respond. In February of this year Illumina claimed it had sequenced a human genome in less than four weeks for approximately $100,000, which included the cost of paying off the purchase price of the company's $500,000 Genome Analyzer. The company claimed its method produced a more reliable map of the genome. Both companies sequence the same genome multiple times, but Illumina made twice as many passes as Applied Biosystems, he said. Meanwhile Roche Holding AG's 454 Life Sciences unit said last year it had sequenced a complete genome in two months for about $1m.
Illumina, Roche and Applied Biosystems are battling to become the technology of choice in a global gene sequencing market that is expected to reach approximately $850m in the next three years. As genome sequencing price drops, scientists expect to see it used increasingly in diagnosing disease and drug development. The buoyant market predictions means companies are ever eager to enter the sequencing market with new technologies to get a slice of the pie.
US based Helicos Biosciences announced last month it had received its first order of its $1.5m sequencer. Meanwhile, Danaher Corp., based in Washington, said it shipped its first $150,000 Polonator sequencer this week.