The Human Genome Project

Tiffany Priebe

Copyright 1998


Can you imagine knowing your own genetic code? Going into the doctor for a routine physical and leaving with the knowledge of your genetic downfalls so that you may prevent disease and cancers. This may seem unbelievable but it is likely to be implemented in the near future. Since the start of the human genome project, the medical community has been anxiously awaiting its completion because the applications it has to this field are obviously enormous. However, we still have much to learn about genetic variability and the information we gain can be used to prevent, repair, and eradicate illness.

About fifteen years ago at a conference near Salt Lake City, the Department of Energy brought up a question that would change the face of science, more specifically molecular genetics. They questioned why there was no DNA research on the way mutations are detected and they decided to change that. Thus, the Human Genome Project was born. Actually there was a lot more planning to do before the work began, ranging from the technical aspects to developing a separate commission dealing with the ethical issues. Eight years after officially starting the project, the public is in awe of what has been accomplished. The projected goal is to have an accurate, complete sequence of human DNA by the year 2003, two years sooner than previously expected (Collins, 1998). The reason for the project is on schedule is that innovative techniques are being applied in DNA sequencing that are more cost effective as well as more efficient.

The discovery of new techniques, as well as developing extensive genetic and physical maps have been the primary goals of the project. A detailed genetic map will enable scientists to pinpoint the exact locations of genes. Alternatively, a physical map of a chromosome consists of pieces of DNA that make up the chromosome. The physical map will be used in conjunction with the genetic map to localize a gene and to isolate the exact DNA fragment from it. Once the project is complete, focus can be changed from finding genes to understanding them. In what ways will the Human Genome Project revolutionize the world of medicine? What great gains will it bring humans and what implications will it bring with it?

Technical Aspects

An important point to make is that the human DNA sequence and map generated from this project is not made up of one individuals DNA, but is a compilation of several randomly chosen individuals. Humans differ in genetic makeup by only 0.1% of our DNA. That very narrow margin of difference accounts for all the variety we see in the world today.

Before continuing, a little background about the techniques is necessary. Some of the basic tools used include restriction enzymes that cleave double stranded DNA in specific areas, and gel electrophoresis, which separates DNA fragments according to size and charge. Cloning vectors are vital tools in the genome project as well. They have fragments of "foreign" DNA, which are replicated as the host cell reproduces.

Vast improvements are being made in the area of DNA sequencing with the goals of faster and cheaper in mind. Accomplishments, which are improving sequencing, include new types of genetic markers called microsatellites used in PCR and improved vector systems for cloning large fragments of DNA. Hybridization is also being used in the human genome project although it is already an important component of genetic screening. It consists of short chains of nucleotides called oligomers used to correspond with DNA. Matches in the sequence are detected by fluorescence and statistical analysis reassembles the sequence (Fickett, 1994).

In conjunction with sequencing the entire human genome, several model species have been chosen such as E. coli, C. elegans, and M. musculus to name a few. The latter, also known as the lab mouse is especially valid because the genetic sequences and gene functions are very similar to humans. Due to this homology between mice and humans, a gene located on a chromosome can lead to a predication of where the gene will be found in the mouse, and vice versa. An example of this is a form of muscular dystrophy called Duchenne. The genes in both species produce similar proteins and both of them function in muscle development. When the gene does not function, muscular dystrophy develops in both species but is more severe in humans (10/10/98).

Implications of the project

The genome project is going to change the way we look at ourselves. It will drastically change medicine, agriculture, and many other areas of our everyday lives. Along with gaining vast amounts of knowledge about ourselves, many ethical questions arise that need to be answered.

When you think about it superficially it sounds too good to be true. Who could possibly object to detecting and possibly preventing thousands of genetic diseases? The scope of medicine will change from healing of the sick to prevention via drugs, immunotherepy, avoidance of environmental triggers, or even gene therapy. By recognizing genetic disorders at an early stage in development the probability is great that the gene can be modified, repaired, or ultimately replaced in the future.

Pharmaceutical products with human hormones and even brain neurotransmitters are possible via bacteria or yeast cell gene replacement (Suzuki,1990). The agricultural aspects are also tremendous. Imagine producing healthier, disease resistant animals that may produce drugs of value to humans.

Besides the obvious benefits to medicine and pharmaceutics, genome research is greatly broadening the fields of biology and biotechnology. In having a complete genome, evolutionary processes and relationships can finally be established with accuracy and firm evidence. Another application is in the field of microbiology. By comparing the DNA content of healthy and the ill, it will give insight as to how pathogenic diseases (including viruses, which have been a nemesis) travel throughout the genetic sequence.

On the other hand, who owns this information and more importantly who should have access to it. Should employers have access to confidential information about individuals traits. The affect of the individual also has to be concerned. Do we really want to have the future foretold to us? If there is no treatment available for a particular cancer, should the individual be told? Another big issue is if the project is going to encourage "fixing" problems that people have such as alcoholism, mental illness, or homosexuality. Another concern is once we have the information scientists need to be absolutely sure that the diagnostic tests are going to be interpretable and reliable as this information will have life changing effects on the individual.

Another concern many have is that one again the human race is moving too fast. Some believe that both science and society would benefit from a slower, less glamorous, multidisciplinary approach. In the past several examples come to mind that prove this point such as the testing of the atomic bomb and nuclear power plant trials. It seems to be human nature to have grand delusions of conquering nature. With all the enthusiasm coming into the project, priorities and adverse effects are forgotten. At least they will be forgotten until we are left with a deluge of unexplainable data. We are dealing with our genetic makeup, and some believe it should be left alone because it is up to a higher power.

Personal Opinion

I tend to see gray on a lot of ethical issues but this is one case where I did not have trouble making a decision. I fully support the human genome project for several reasons. I think that the project was well thought out, it certainly is well documented, and the fact that it is so public also shows merit. The planning commission, when devising the project, decided right away to allocate funds to an ethical and social committee. As the project continues, more and more tough questions do arise that need answers, or at least reassurance that this project is still an appropriate thing to do and I think scientists have done a marvelous job so far in handling ethical issues.

The fact that the project is accessible to the public is also very important. I think it takes a lot of worry off the public because it is not the unknown. The old vision of "mad" scientists nestled in the corner of a dreary lab is somewhat shattered. It also is bringing a lot of interest to the field of genetics and biotechnology, which will continue to be predominant in the next several decades of science.


The human genome project will bring us vast amounts of knowledge that will probably take years to sort through. The effects of the project will touch every human either directly or indirectly and cause a major impact in almost every discipline imaginable. The only guarantee the project gives us is that there will be changes occurring in our lives. The question is, "Are we ready for them?"


1- Human Genome Project Information. Obtained 10/8/98:

2- About the Human Genome Project. Obtained 10/08/98:

3- Collins, Francis S., et al. "New Goals for the U.S Human Genome Project: 1998-2003." Science. 23 Oct. 1998: 682-689.

4- Suzuki, David, and Peter Kundtson. Genethics: the clash between the new genetics and human values. Cambridge, MA: Harvard University Press, 1990.

5- Peters, Ted. Playing God? Genetic Determinism and Human Freedom. New York, NY: Routledge, 1997.

6- Fickett, James W., et al. The Human Genome Project: Deciphering the Blueprint of Heredity. Mill Valley, CA: University Science Books, 1994.

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