The Human Genome Project, Part 6

Up To Date With The Human Genome Project

What recent progress has the HGP made?

Most people around the world became aware of the extensive progress made by the Human Genome Project on June 26th, 2000. On that day, President Clinton, leaders of the HGP and representatives of the biotechnology company Celera announced the completion of a "working draft" reference DNA sequence of the human genome. This achievement provided scientists worldwide with a road map to an estimated 90% of genes on every chromosome. (All HGP data are freely available on the Internet for use by scientist and researchers around the world.) Although the current draft contains gaps and errors, it provides a valuable scaffold for generating a high-quality reference genome sequence-the ultimate HGP goal expected to be achieved by 2003 or sooner. The draft also reveals the location of most human genes. Knowledge about genes will speed the understanding of how genetics influences disease development, aid researchers looking for genes associated with particular diseases, and contribute to the discovery of new treatments.

President Clinton states, "The sequence represents only the first step in the full decoding of the genome, because most of the individual genes and their specific functions must still be deciphered and understood. This research has begun, and already, tens of thousands of genes have been identified, including some related to deafness, kidney disease, breast cancer, hereditary skeletal disorders, hemorrhagic stroke and diabetes, thus advancing the work of researchers worldwide at a rate that would have impossible without these data. The Human Genome Project, which completed its version of the working draft two years ahead of schedule and under budget, will continue its longstanding practice of making all of its sequencing data available to public and privately funded researchers worldwide at no cost."

President Clinton, with J. Craig Venter, left, and Francis Collins,
announces completion of "the first survey of the entire human genome."Photo: Associated Press AP

What is the HGP currently working on?

The current five-year plan (summary above) guiding the HGP research today includes goals for sequencing technology development; for studying human genome sequence variation; for developing technology for functional genomics; for starting the mouse genome; for studying the ethical, legal, and social implications of genome research; for bioinformatics and computational studies; and for training of genome scientists. The HGP is currently working towards accomplishing these goals and ultimately generating a high-quality reference genome sequence by the year 2003. 

The yellow table shows the sequencing progress made on the human genome (as of September 18, 2000). The Finished (final data) row refers to human DNA that has been completely sequenced with 99.99% accuracy (only one in 10,000 bases unknown) and is part of the final draft of the human genome. The Unfinished (draft) row refers to human DNA that has been sequenced but is still not a final draft. The unfinished data must be reviewed for errors and gaps in DNA sequence must be filled. Lastly, the TOTAL row refers to the sum of the Finished and Unfinished data, also referred to as the "working draft" of the human genome. The overall "working draft" is said to be 99.9% accurate with only one in every 1000 bases unknown. However, because estimates show that all humans are approximately 99.9% genetically identical, accuracy plays a crucial role and is very important to creating a complete, absolute sequence of the human genome.

Is the HGP on schedule as planned?

The Human Genome Project is not only on schedule, but it is ahead of the schedule it originally planned. When started in 1990, the HGP was to be completed by 2005. Currently, the HGP has successfully completed all the major goals in its five-year plans covering periods in 1990-95 and the revised plan for 1993-98. A new plan, for 1998-2003, was presented, in which human DNA sequencing became the major emphasis. An ambitious schedule has been set to complete the full sequence by the end of 2003, 2 years ahead of previous projections. Increasing technological advances and pressure from private competition allowed the HGP to change its projection to 2003. Also, in the course of completing the sequence, the working draft of the human sequence had been targeted for completion by the end of 2001; but again the HGP worked harder and faster and completed it in June 2000. This is only the beginning and there is still much genomic research to be done.

Worldwide human genome sequencing progress
Measured as base pairs of finished sequence

Where is the HGP headed in the future?

As the pace of genome sequencing is increasing exponentially around the world, the HGP will continue on course to mapping the human genome by 2003. The HGP will stop nothing short of a sequence of high accuracy and detail that will allow a full interpretation of all the information encoded in the human genome. In the course of finishing the first human genome sequence by the end of 2003, the working draft was produced even sooner than expected, possibly foreshadowing a final draft of the human genome sooner than expected as well. Many current and future scientific projects are assisted by the speedy discoveries of human genomic information. Likewise, the faster the genome is sequenced the sooner science will advance to new levels of research and discovery. After the HGP has completed its main task, it is up to the scientists to decipher the human genome's true pattern, functions, and meaning. Also then, the drive to interpret data will no longer be limited to only the chromosome unit, nor to individual genes. Increasingly, scientists will home in on the broader evolutionary patterns and interactions of large genes and non-gene sections of DNA. Even further, to help understand disease, scientists will have to analyze and interpret this massive amount of data and study the complex interactions between genes, proteins and cells, as well as wider environmental factors. The completion of the human genome sequence will be the beginning of an immense scientific revolution that will direct biological studies for the coming centuries.

Medicamentos originales o generico online in Spain. Sources-National Center for Biotechnology Information, National Institute of Health, Department of Energy, National Human Genome Institute, Science magazine

Genome Project, Part 1 | Genome Project, Part 2 | Genome Project, Part 3 | Genome Project, Part 4 | Genome Project, Part 6