On February 16, 2001, a special issue of Science was devoted almost entirely to the human genome. In that report, scientists revealed that the human genome consisted of 2.91 billion nucleotide base pairs. However, this rough draft was accomplished using a “shotgun” approach to the entire genome, and as such, there were many gaps left to fill. Since that time, researchers have been slogging away to collect data from those areas not examined by the initial survey. On April 14, 2003, the International Human Genome Consortium announced the successful completion of the Human Genome Project—more than two years ahead of schedule. The press report reads: “The human genome is complete and the Human Genome Project is over” (see “Human Genome Project…,” 2003, emp. added). This announcement comes almost fifty years to the day after James Watson and Francis Crick unveiled their description of the DNA double helix. [For an in-depth look at the human genome project and a Christian perspective, the reader is encouraged to review Dr. Bert Thompson’s article titled “Cracking the Code—The Human Genome Project in Perspective.”]
In most organisms, the primary genetic material is DNA. [Some viruses, primarily retroviruses, contain only RNA (see Nicholl, 1994, pp. 9-10; Ridley, 1999, p. 9).] What Watson and Crick discovered fifty years ago was that the molecular structure of DNA normally is arranged like a spiral staircase, composed of two polynucleotide chains bound to one another, and wrapped around a central axis. Each “step” of this staircase is made up of a bond between one of four nucleotide bases: adenine (A), guanine (G), cytosine (C), or thymine (T). The goal of the human genome project was to determine the total number of “steps” on the staircase, and the nucleotide base pairs that composed each “step.” The finished product, scientists now know, consists of 3.1 billion base pairs (or letters) that comprise the human genome. This amazing feat was carried out by hundreds of scientists working together from twenty sequencing centers located in China, France, Germany, Great Britain, Japan, and the United States. The press release from the Human Genome Project Web site states that this accomplishment “is considered by many to be one of the most ambitious scientific undertakings of all time, even compared to splitting the atom or going to the moon” (see “Human Genome Project…,” 2003).
If it is indeed comparable to going to the Moon, then scientists now must figure out how to get to Pluto. While we now know what each of the letters is, we still must determine what each letter does—i.e., what each one is responsible for. Specific segments of DNA make up genes that control specific things (such as hair color, eye color, etc.). What each of those genes controls is still a mystery. A good analogy might be a young child who has just learned the alphabet. While that is a great accomplishment, that child has much to learn before he or she can read and understand a novel. Scientists are now in the position of that young child. We now know the “alphabet” of the human genome. And we can even “read” many words (genes). But we are a long way from reading and comprehending the entire book. Thus, scientists are now faced with the Herculean task of finding out what each gene does, inventing tools that can inexpensively screen the entire genome of humans, and then discovering tools that will allow them to alter those genomes that contain things such as genes contributing to conditions like diabetes, heart disease, or mental illness. While many are shouting “you’ve come a long way baby,” other scientists realize there are “miles to go before we sleep.”
As Dr. Francis Collins, director of the genome center at the National Institutes of Health, noted: “The completion of the Human Genome Project should not be viewed as an end in itself. Rather, it marks the start of an exciting new era—the era of the genome in medicine and health” (see “Human Genome Project…,” 2003). The emphasis now will be placed on how we can use the information that we have obtained thus far. Scientists then will look for variations that are related to diseases such diabetes or Parkinson’s. And then they must construct ways of “correcting” those diseased or mutated genomes.
While the April 14, 2003 announcement does indeed mark a milestone in science, it has not come without some criticism. The finished sequence produced by the Human Genome Project covers only about 98-99% of the human genome’s gene-containing regions—thus the word “complete” may be somewhat premature. The working draft that was reported in June 2000 covered only 90 of the gene-containing regions; thus, this finished product is considerably more complete (and more accurate) than the draft version. The remaining gaps represent regions of DNA that scientists have found difficult to sequence reliably. Elbert Branscom noted: “It’s the best effort that mortals can do with current technology” (see Pearson, 2003). Reporting on these missing gaps Nicholas Wade noted:
When the working draft of the human genome was produced, consortium scientists called it the “Book of Life,” with each chromosome a chapter. In the edition published today, small sections at the beginning, end and middle of each chapter are blank, along with some 400 assorted paragraphs whose text is missing, although the length of the missing passages is known (2003).
Nicholas went on to quote Evan Eichler, a computational biologist at Case Western Reserve University who studies certain duplicated regions of the genome. Dr. Eichler observed that this was indeed a “momentous achievement,” but that “we shouldn’t declare a job ‘complete’ until it is.” He went on to note that it was “critical that the complete human genome sequence be, well, complete, in the fullness of time” (as quoted in Wade, 2003). Some scientists speculate that it could take an additional 10-20 years to sequence the unusual structures that remain unknown in the human genome. Additionally, researchers now are anxious to compare the human genome to that of animals, so the race is on to “finish the job” and complete the genomes of a variety of animals. Thus, we can be reassured that while the Human Genome Project has been declared “complete,” genome sequencing centers will not go out of business.
With this first major step out of the way, biologists now must systematically identify the regions of DNA that hold genes of interest. In the April 24, 2003 issue of Nature the National Human Genome Research Institute (NHGRI) will officially unveil its vision for the future of genomic research, thereby officially closing one door and opening a new one. In this new chapter, scientists must look for variations in DNA sequences that might contribute to diseases. Yet with this newfound information comes an awesome responsibility—one that must not be overlooked. Francis Collins spoke of this responsibility years earlier at a press conference held jointly by the President of the United States and the Prime Minister of Great Britain.
Today, we deliver, ahead of schedule again, the most visible and spectacular milestone of all.... We have developed a map of overlapping fragments that includes 97 percent of the human genome, and we have sequenced 85 percent of this.... It’s a happy day for the world. It is humbling for me and awe-inspiring to realize that we have caught the first glimpse of our own instruction book, previously known only to God. What a profound responsibility it is to do this work (see Office of Technology Policy, 2000, emp. added). [NOTE: In an interview that appeared in the March issue of Discover magazine three months earlier, Dr. Collins publicly affirmed his personal faith in the God of the Bible, and commented on how grateful he was to be associated with the HGP as it uncovered some of the “mysteries of human biology”—see Glausiusz, 2000, 21[3]:22.]
A profound responsibility indeed! To actually be able to “peek inside” the biochemical code—“whose Builder and Maker is God”—is indeed “humbling and awe-inspiring.”
REFERENCES
Glausiuz, Josie (2000), “Genetic Code-Breaker” [Interview with Dr. Francis Collins, Head of the U.S. Human Genome Project], Discover, 21[3]:22, March.
“Human Genome Report Press Release” (2003), International Consortium Completes Human Genome Project, [On-line], URL: http://www.ornl.gov/TechResources/Human_Genome/project/50yr.html.
Nicholl, Desmond S.T. (1994), An Introduction to Genetic Engineering (Cambridge, England: Cambridge University Press).
Pearson, Helen (2003), “Human Genome Done and Dusted,” Nature Science Update, [On-line], URL: http://www.nature.com/nsu/030414/030414-1.html.
Ridley, Matt (1999), Genome: Autobiography of a Species in 23 Chapters (New York: HarperCollins).
Wade, Nicholas (2003), “Scientists Say Human Genome is Complete,” New York Times, [On-line], URL: http://www.nytimes.com/2003/04/15/science/15GENO.html, April 15.
Copyright © 2003 Apologetics Press, Inc. All rights reserved.
We are happy to grant permission for items in the "In the News" section to be reproduced in their entirety, as long as the following stipulations are observed: (1) Apologetics Press must be designated as the original publisher; (2) the specific Apologetics Press Web site URL must be noted; (3) the author’s name must remain attached to the materials; (4) any references, footnotes, or endnotes that accompany the article must be included with any written reproduction of the article; (5) alterations of any kind are strictly forbidden (e.g., photographs, charts, graphics, quotations, etc. must be reproduced exactly as they appear in the original); (6) serialization of written material (e.g., running an article in several parts) is permitted, as long as the whole of the material is made available, without editing, in a reasonable length of time; (7) articles, in whole or in part, may not be offered for sale or included in items offered for sale; and (8) articles may be reproduced in electronic form for posting on Web sites pending they are not edited or altered from their original content and that credit is given to Apologetics Press, including the web location from which the articles were taken.
For catalog, samples, or further information, contact:
Apologetics Press
230 Landmark Drive
Montgomery, Alabama 36117
U.S.A.
Phone (334) 272-8558
http://www.apologeticspress.org
