All the instructions required to make a human being are contained in the human genome, a book with a billion words laboriously transcribed after a heroic scientific effort by everybody, freely available today on the Web or on a DVD to anybody. Now what?
The most important thing to realize about the human genome “Book of Life” is that we barely understand the language in which it is written. It’s like being handed the exquisite poetry of Shakespeare without speaking Klingon. Or something like that. Anyway, this week the National Human Genome Research Institute (NHGRI) formally launched a consortium project to develop methods for identifying and locating functional elements of the human genome. Called the Encyclopedia of DNA Elements (ENCODE), the pilot project will involve $12 million in initial funds. As reported in The Scientist, the project will initially fund 5 to 15 groups to develop and compare high-throughput techniques to “decode” genome data using a defined set of target sequences comprising about one percent of the total human genome. “When the Human Genome Project ends, everything begins,” said Eric Green, director of ENCODE. “This is where the information really is. This is where you are going to learn how things work and how things cause disease. We are so profoundly ignorant of the human genome sequence. You cannot point to even 10 kilobases of the human genome, certainly not 100 kilobases, where any scientist can stand up and say ‘I know everything that is functionally important in those 10 kilobases.'”
Green expects consortium members will “overkill” the initial one percent of the genome choosen for examination with over-sampling and debate. But they need to get a firm footing and establish a “gold standard” before they can tackle the genome as a whole. After the initial three-year pilot program, the methodologies developed will hopefully then be used on the remaining 99% of the genome. And who knows? One day biologists may actually understand what they have successfully transcribed.