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Biotech Tracker News - The Human Genome is Sequenced 

April 15, 2003,In mid-2000, The International Human Genome Sequencing Consortium and Celera (NYSE: CRA) both published a draft of the human genome, sparking the largest run-up in valuation in the biotech sector’s short history. Investors were eager to capitalize on the genome. As it became clear that commercial applications stemming from the genome would take years to develop, the “genomics bubble” burst. Many companies with spectacular IPOs in 2000 are now trading below their cash value. Amid this misguided disappointment, the International Human Genome Sequencing Consortium quietly announced yesterday that the human genome sequence is “finished.” 

The finished sequence covers approximately 99% of the genome’s gene-containing regions with an accuracy of 99.99%. This quantitative superiority over the draft sequence is associated with qualitative superiority in terms of accelerating more precise gene discovery, more accurately defining roles of DNA sequence not copied into RNA and/or protein, and especially detecting variations in DNA sequence – often the key to discovering novel drugs and diagnostic tests for both drug response and characterization of disease. 

Investors now understand that using the human genome sequence to entirely overhaul medicine, discovery by discovery, will take years or decades. Nevertheless, the importance of the human genome sequence cannot be overstated. Along with the complete sequence, the National Human Genome Research Institute (NHGRI), which leads the International Human Genome Sequencing Consortium in the U.S., will publish its vision of how the human genome will be used. NHGRI’s priorities include developing: 

tools that permit clinical applications from knowledge of the hereditary contributions to common diseases such as diabetes, heart disease, and mental illness 
novel methods for the early detection of disease 
novel technologies able to sequence the entire genome of any person for less than $1,000 
widespread access to tools and technologies of “chemical genomics” designed to improve the understanding of biological pathways and accelerate drug discovery. 
The NHGRI’s vision for the future of the genome will be published in the April 24, 2003 issue of the journal Nature, 50 years after Nature published James Watson and Francis Crick’s description of DNA’s double helical structure. 

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