Humang Genome Project

Daniel Melaas

Copyright 1999


The Human Genome Project (HGP) is an internationally collaborative venture to identify and mark all the locations of every gene of the human species. The HGP in the United States was started in 1990 and was expected to be a fifteen year effort to map the human genome. There have been a number of technological advances since 1990 that have accelerated the progress of the project to a completion date sometime during the year 2003. The U.S. HGP is composed of the Department of Energy (DOE) and the National Institute of Health (NIH) which hopes to discover 50,000 to 100,000 human genes and make them available for further biological study (1). There are a number of other countries that are involved in the project, including Australia, Brazil, Canada, France, Germany, Japan, and the United Kingdom (1). Besides numerous countries involved in the project there is also a number of commercial companies that are involved in sequencing (6). The collaborative 3 billion dollar price tag will be used to sequence the possible 3 billion DNA base pairs of human DNA.

The possibilities from the information that will be obtained from the project are virtually endless. It will most likely change many biological and medical research techniques and many of the practices used by our medical professionals today. The knowledge that will be obtained will help lead to new ways of diagnosing, treating, and possibly preventing diseases. Through the discovery of the human genome, the possibilities are endless for agriculture, health services, and new energy sources also. The end result of the HGP will be information about the structure, function and organization of DNA, as we know it today.

Technical Aspects of HGP

There are a number of goals that have been set forth by the HGP that they hope to have finished by their completion date in 2003. One of the first goals of the project is to identify the 50,000 to 100,000 genes that are found in DNA (2,3,4). The second goal of the HGP is to sequence the 3 billion chemical bases that make up human DNA. DNA sequencing is the process of determining the order of the chemical building blocks "bases" that make up the DNA of the human chromosome. This information will then be stored into a large database so that information can be used by other individuals'. The HGP hopes to then be able to develop tools for the analysis of this data. Finally, the HGP would like to address the ethical, legal, and social issues that will no doubt arise from the project. As of 10/8/99, the working draft sequence's goal of 90% by the summer of 2000 is at 13.6% of its goal (453,968,000 bases). The finished high quality sequence's goal of 100% by 2003 is at 13.8% (466,883,000 bases) of their goal(1).

The DNA that is being used in the project is from four individuals (5). This can be done because humans differ in their genetic makeup by 0.1% of their DNA. This 0.1% accounts for all of the genetic variability that we see and recognize in our society today.

There are a number of different techniques that are used in the genome project to determine the sequence of DNA. One is the use of a new high resolution mass spectrophotometer equipped with vacuum ultraviolet photoionizer to sequence forrecene-tagged DNA(1). This new technology could eliminate the need for both gel electrophoresis and radioactive tagging while sequencing DNA segments. This method is accomplished by a primer being labeled with organometallic compound such as ferrocene. The new DNA segments that terminate at each occurrence of a particular DNA base are built up on the primer using the original DNA template. Later, the primer is read in a high resolution time of flight mass spectrophotometer where masses and sequences are determined.

Another technique is automated DNA sequencing. This process is used to speed up the task of DNA sequencing. There are a number of dyes that attach specifically to the bases of the DNA (2). The fragments of DNA are then sent through a glass tube that is filled with a transport gel. The fragments are then excited by the use of a laser and each dye will give off a certain color. These colors are then read by a computer, which will give the DNA sequence.

Benefits of the HGP

The benefits of the Human Genome Project will more than likely be felt throughout the world. The expenditures on genomics research in U.S. industry is projected to be 45 billion dollars by 2009. This projected dollar amount is through the sales of DNA based products and technologies in the biotechnology industry.

One of the potential benefits is in the field of molecular medicine. The benefits in this field could include better diagnosis of disease, early detection of certain diseases, and gene therapy and control systems for drugs (1). In the future there should be new treatments in molecular medicine that don't treat the symptoms but look at the causes of the problem at hand.

Another field that may reap the benefits of the HGP is the field of microbial genomics. This field may be able to find new energy sources, through the sequencing of a bacterial genome. This could lead to discoveries that are useful in energy production, toxic waste reduction, and industrial processing (2).

The HGP can also be very useful for the understanding of human evolution and human migration. It may help lead scientists to find out how humans have evolved and how humans are evolving today. It will also help to understand the common biology that we share with all life on earth. Comparing our genome with others may help to lead to associations of diseases with certain traits.

One last field that will undoubtedly receive monumental benefits from the HGP is the field of agriculture and livestock breeding. This technology could help to develop disease, insect, and drought resistant crops thus being able to produce more for the world. It would also help to produce healthier, more productive, and possibly disease resistant animals to be sent to market.

Ethics issues of the HGP

The general public and people in the HGP have shown a lot of concern over the ethical issues involved with the Human Genome Project. Because of this concern the Department of Energy and the National Institutes of Health have put 3 to 5% of their annual budget for the HGP to studying the ethical, legal, and social issues (ELSI) involved in the project (1,3). The use of sequencing will make a profound impact on genetic screening of individuals. Medical professionals will be able to look at a person's genome and be able to tell many things about a person just by looking at the person's genes. This new technology will bring a number of issues such as the fairness in the use of genetic information. This issue is targeted mainly at who should have access to genetic records and how can they be used. Some of those targeted are insurers, employers, courts, schools, and the military. If this information is used by some of these agencies there could be discrimination based on genetic disorders. This discrimination could be from diseases that run in a family to mental disorders that a person cannot help.

The privacy and confidentiality of genetic information could also lead to problems. For certain reasons, many people would want for no one to see what their genetic makeup is. There would also be concerns of psychological problems associated with knowing your own genetic makeup. If someone were to find out they have a good chance of developing a rare disease it would most likely drastically change their thinking on life. For reproduction, there could be compatibility problems of two individuals to have normal children. This would cause stress in a large number of people's lives.

Another issue that has risen is the use of gene therapy to treat disease. The use of a person's genome to tell if a person carries a genetic disease will help in the treatment of these diseases. In gene therapy a faulty or infected gene is replaced with a normal gene, so the individual does not display the trait that they were naturally born with. Many people feel that this is wrong because we are more or less taking over the course of nature, and they feel that this is not the natural way.

There are also clinical issues that need to be overseen with the HGP. When the project is finished, many new techniques will need to be taught to our health service people. There will also be a need to educate patients and the general public as to what is happening in these procedures. There will need to be genetic counseling for people undergoing genetic testing. Health care providers will need to know how to tell people the ramifications that go along with the testing that they will be undergoing.

The HGP will also cause concerns over commercialization of the technology. If there are only a few agencies that are working on the project, who will get the rights to the technology. The major concerns will most likely be over the patents and copyrights of the technology.

There are also critics of the HGP that contend that the high cost of the project is not justified. Some critics also say that the ability to diagnose a genetic disorder before any treatment is available causes more harm than good, because it will create anxiety and frustration among individuals (2). There is also the very big question of what is "normal". When and where will the use of genetic material be able to be used in society after the HGP is finished.

My feelings on the subject

I believe that the Human Genome Project will have a profound input on our daily lives as we enter the 21st century. The amount that it could effect our lives is limitless. I think that there are many beneficial outcomes to the project, but I also feel that there are a number of things that could hurt our society as a whole. Overall I feel that the beneficial effects far outweigh the negative effects that can be bestowed upon us by the HGP.

I believe that the project in the future will greatly change the way in which health care is provided. The effects should help to lessen some of the hurt and suffering that happens in today's society from genetic diseases. I also believe that there should be monitoring of the use of this information to cure or prevent an individual from having a certain ailment that causes them pain. I am not really sure where or how this monitoring should be implemented or how it would work but there should be some guidelines.

On the issue of privacy and fairness of the use of genetic information, I believe that an individual should hold the right to know if they are in danger of getting a disease. On the other hand I don't think that it is right for agencies such as insurers, employers, or schools to have personal information given to them so they are able to make discriminatory decisions based on a persons genome. This certain person most likely is not able to change their genes so they should not be discriminated against.

On the issue of who gets the profits from the project, I believe that we, as tax paying citizens should get the information on some sort of public access medium. Since the Department of Energy and the National Institutes of Health are funded by the U.S. government, we are actually footing most of the bill as taxpayers.

I think that it should be an individual's choice whether he or she would like to have a certain gene manipulated so that they will not have a certain disease. Parents who are expecting a baby should also have the right to see if they will have a healthy young child. When the baby is developing, I also feel that the parents should have a choice to see if there are any birth defects or other abnormalities of the fetus that would lead the child to live a miserable life.

The technology should not necessarily be used for personal gain. If we were able to do this it would get to a point to where people would more or less be clones of one another. This is where there should be some form of regulation put in place. I'm not so sure that it can totally be stopped. There will always be someone who will offer their services to help another person out for the right amount of money.

I think that the use of genetic engineering is very useful for prospective use in agriculture and animal production. The technology that will come in the future will be very useful to us as a society. The use of this information could help us to cure many diseases of animals and help to reduce the amount of damage done to our crops each year by insects and diseases. We would thus be able to produce more for the consumer with less input.


1. Human Genome Project Information. Obtained from the WWW 10/19/99: 10/11/99:
2. The Human Genome Project. Obtained from the WWW 10/19/99: 1992:
3. The Human Genome Project. Obtained from the WWW 10/19/99: 1/5/99:
4. Marshall, Elliot. New Goals for the U.S. Human Genome Project: 1998-2003. Science. Vol. 282. Pg.682-688. Oct. 23, 1998.
5. Marshall, Elliot. Whose Genome Is It Anyway? Science. Vol.273. pg 1788-1789. Sept. 27, 1996.
6. Marshall, Elliot. Commercial Firms Win U.S. Sequencing Funds. Science. Vol. 285 pg.310. July 16, 1999.

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