When future historians look at this time period, it’s hard to say what they may select as our greatest achievements. They may hold the computer chip or the steps taken on the Moon as our greatest exploits. They may even consider nuclear fusion or the Internet our most prominent success. An even greater feat may soon overshadow them all. Two years ahead of schedule, the Human Genome Project (HUGO) is set to attain its current goals by the year 2003.

It is unlikely that any other human achievement has ever pulled together the resources and international cooperation to such a massive degree. Researchers across the globe are pooling their efforts to make publicly known the very instructions for human life itself. The greatest aspect of HUGO is not only the information it provides, but the responsibility and foresight of the project’s goals. Project leaders have realized the information they are unveiling is larger than the textbooks it will fill. The genome project is actually a comprehensive series of projects designed to assist a vast number of intellectual and even theological investigations.

The primary goal is, of course, to sequence every nucleotide, all 3 billion, in the human genome. The means of reliably finding the nucleotide sequence involves several steps. The analyzed DNA is collected from blood and sperm samples. These samples are taken from a pool of people, only 15 or so are actually used. Neither the researchers nor the donors know whose donations are actually being used. The genome is thus a conglomerate of these genetic samples and not one specific individual. The differences between any individuals is minute in comparison to the enormous similarities among individuals of a similar species. Even the genetic blueprints of chimpanzees differ from humans by only 1-2% of the nucleotides.

There are several types of sequencing methods. The most widely used at this time is the chain termination method. This method utilizes flourescently labeled dideoxy nucleotides to interfere with the elongation of the strand by the DNA polymerase. The dideoxy nucleotides lack a 3’ OH group. Since this is the site of attachment for the next nucleotide, competition of dideoxy nucleotides with regular nucleotides will cause the chain to terminate at random points during its extension. These dideoxy groups are flourescently labeled, and a laser with a detection device can tell whether a given segment ends in an Adenine, Thymine, Guanosine, or Cytosine nucleotide (A, T, G, or C, respectively). These segments can be separated according to size. The resolution is sensitive enough to allow researchers to detect the emission and order of all of the flourescently labeled dideoxy nucleotides. Any segment of DNA must be sequenced in this fashion about ten times to provide enough information to allow the weeding out of erroneous results and produce a very high quality sequence. Ten sequences leaves room for a single mistake in ten thousand base pairs. In June, 2000, a low quality, 5-sequence draft of the human genome was completed to provide a reference for researchers.

A second goal of the project is to improve the sequencing technology itself. Such improvements will allow future sequences of other organisms to be completed at a much faster and cheaper rate. The cost of sequencing each nucleotide is approximately fifty cents. Improvements in technology seek to cut this cost in half. Developments on the horizon include microelectrochemical systems, rapid mass spectrometric analysis, and single-molecule sequencing methods.

The introduction of the human genetic sequence into modern genomics is another primary goal. Thoughtful concern for how the sequence will be used at these early stages will streamline efforts in the future to use the data. This aspect will be fulfilled by establishing the sites of translation for every protein made in the body. There may be as many as one hundred thousand of these gene producing sites in the human genome. To find these sites, the correlating mRNA of a given protein is isolated and reverse-transcribed back into complementary DNA. Reverse transcription utilizes the same reverse transcriptase that enables retroviruses to convert their RNA into DNA for insertion into the host’s genome. This complimentary DNA (cDNA) can be used to associate and mark the site of transcription on the original DNA. These sites are referred to as Sequence Tagged Sites (STSs). STSs are then compiled to produce a cytogenetic band map of the chromosome. Non-coding regions of DNA, methods of mutating genes and the improvement of cDNA libraries will be investigated as well.

Single-nucleotide polymorphisms (SNPs) will also be investigated. Researching SNPs provides information on the effect of altering specific nucleotides. Such information will allow researchers to peer into, predict, and possibly correct, the exact nature of genetic disorders.

Expanding the field of comparative genomics is a goal of the Human Genome Project that will drastically help improve the understanding of the human body. The complete genomes have been found for several other organisms. The yeast, (Saccharomyces cerevisiae), roundworm (Caenorhabditis elegans), fruit-fly (Drosophila melanogaster), and archeon (Methanococcus jannaschii) have already been completed, but none contain such complexity as that of the human genome. ) The vast amount of research into the fruit-fly and mouse make the development of their genomes of extremely beneficial. HUGO plans to have the mouse sequenced by 2005.

Ethical, Legal, and Social Implications (ELSI) is a section of HUGO seeking the best means of introducing the genetic technology into society, if such an introduction is even plausible. Issues addressed in this category include the use of genetic information into health care and even non-clinical applications. Investigations into religious and philosophical are also being supported in an attempt to understand the ethical implications involved in the study and manipulation of our own genes.

Other sections of HUGO look to the future of genetics. The development of new technologies to implement and investigate genetic data is of crucial importance for future research. The training of future geneticists is of vital importance as well.

The completion or even partial completion of the human genome and its corresponding STSs enables every function and disorder of the human body to be analyzed at a genetic level. Such a level of analysis provides the capacity to exact a great amount of good and bad.

With development of vectors to alter the genetic makeup of an individual, it will soon become a relatively easy procedure to correct genetic disorders. Vectors to correct the single base error associated with hemophilia are under development now. The extent to which similar vectors can be developed to cure the ailments of mankind is virtually limitless. With the development of gene chips, potentially capable of screening an entire genome in less than a day, it may be possible very soon to screen and cure any of these possible defects even before the individual is born.

There is also a great potential for misuse of the genetic information revealed by the Human Genome Project. A great challenge to modern day thinkers is first to determine what would constitute a misuse of the information. Opinions tend to differ greatly. Many people are appalled at the idea of changing someone’s genetic makeup even to correct a "disorder." Others find nothing wrong with changing the color of your unborn child’s eyes on a whim.

It is no-longer unreasonable to imagine a person, now in their twenties, to have the choice of genetically altering their children to prevent hemophilia or grandchildren to produce a track-star. Where should the line for correction be drawn? Is it wrong to make a person with some preconception of who they should be? Are we eliminating the triumph of the human spirit by destroying the very hardships and challenges necessary to foster it’s development.

Society appears to be quite unprepared to provide answers these questions. The science of movies and novels has led us to believe the hardest philosophical decisions made in the twenty-first century would be what color the hover car should be. Now that the power of altering our very genes is approaching our grasp, we must ask if our hearts are prepared to go where our minds are rapidly taking us.

Government research - Great links to most Human Genome Project research facilities