Would people buy a set of books that repeated the same four letters in random order page after page? Or would this information be more convenient to the public if on a computer disc? Many people would agree with the idea that this set of books would be boring. Surprisingly, America and the rest of the world are buying the information in this set of books. In fact, these books contain the human genome. The mapping of the genome (or writing this set of books) is a 15-year project that has brought many ethical issues to attention.
Watson, who won the Nobel prize for his discovery of the double helix, was appointed as the first director of the Human Genome Project. He appropriated three percent of his budget to ethical, legal, and social issues (ELSI) involved with the project (Shinn 1996). Even from the beginning it was anticipated that this project could have both positive and negative outcomes.
One goal to be reached after five years was to have markers every ten centimorgans (Gert, et al. 1996). This goal was stated in 1991 and achieved in 1994 - a year ahead of schedule - when a map with markers every two to five centimorgans was published (Casey, et al. 1995). Sequencing would then follow with a focus on areas of disease and in reducing human error. The main goal for the next five years would be markers every one centimorgan (Gert, et al. 1996).
There are many different techniques that have been tried in sequencing and mapping the genome. Some have diminished in use due to time and accuracy concerns. Once a map has been determined this information can be used to locate the gene(s) causing the disease and then fix it. This would enable us to not only cure a genetic disease we have, but stop it from appearing in future generations. This encompasses broader issues of genetic screening and gene therapy. A map could also lead us to finding evolutionary links between species by comparing other maps to ours.
One of the techniques used in mapping genomes is YAC - yeast artificial chromosomes technique. This is done by cloning large pieces of DNA in yeast. The overlapping segments are used to piece together the DNA (Gert, et al. 1996). YAC technology has lead to the mapping of chromosomes 3, 11, 12, 21, 22, and Y (Casey 1995).
RFLP technology, which locates variations, was one of the first used in mapping. In fact, it showed that mapping was possible. This technique was both expensive and slow. Replacing this technique is the polymerase chain reaction - PCR. PCR rapidly clones the existing DNA, so a larger amount of DNA is obtained. This now large amount of DNA can be sequenced with the aid of a primer (Gert, et al. 1996).
Positional cloning allows for characterization of a gene once its approximate location is known. This technique aided in identifying genes for breast cancer, diabetes, and Alzheimer's disease (Gert, et al. 1996).
Another method involves ESTs - expressed sequence tags - which are single stranded DNA. These DNA segments act as lures to identify a gene's sequence. However, this procedure cannot identify every gene and ignores many others (Travis, "Human Genome Project" 1998).
The shotgun method has been used for smaller genomes and may be applied to the human genome. This involves breaking the DNA into thousands of pieces. These fragments are sequenced and overlapping segments are matched to reveal the genome (Travis, "Human Genome Project" 1998).
Microsatellites are commonly used in mapping. Microsatellites are areas of repetitive DNA. The advantages of microsatellites include abundancy, variation and ability to be analyzed by PCR (Casey, et al. 1995).
UNESCO drafted a declaration on human rights regarding the Human Genome Project. They want an agreement on ideas such as:
With thoughts of profit comes the issue of whether any part of the genome can be patented. Most scientists would agree that these patents are unethical, but others are blinded by the fact that money can be made. Watson, first director of the Human Genome Project, objected so loudly to the idea of patents that it eventually cost him his position (Gert, et al. 1996). Almost five years after Watson lost his battle a scientific race began. Venter and Perkin-Elmer intend to privately sequence the human genome in three years and at a small fraction of the cost. They stress that the urgency of having locations for genes that lead to disease is more important then accurately sequencing the whole genome. They believe the 99.99 percent accuracy set by the Human Genome Project scientists is unnecessary at this stage (Travis, "Human Genome Project" 1998). They will then patent this information and be able to profit.
I know the genome mapping will greatly aid in medical research and alleviate much pain and suffering. Of course, "fixing" genes to prevent genetic diseases should be monitored or people may some day place an order for their children. Once gene therapy is developed further after the map is complete it needs to be limited. A genetic disease should only be cured for that generation, not all upcoming generations. Future generations can then decide if they want to live with this disease or go through the therapy themselves.
Another issue is that people will discriminate based on genetic composition of others. This can be dealt with by just testing for genes of concern, such as breast cancer genes that run in a family. All other genes will remain unknown and insurance companies or employers will have no basis for discrimination. This also borders on the issue of involuntary testing. The military branches are currently making it mandatory to give blood for DNA testing. I think everyone should have the right to decide if they want their DNA to be sequenced.
It appears that the race is now on to sequence the genome. The race between government and private industry can have many outcomes. If industry wins, patents will be applied for. I think this is an injustice. People should not be able to make money to tell me my genetic makeup. This information should be public access so further advancements can be made.
Looking to my future I may have to decide if I want to keep my genetic predisposition to sun cancer and colon cancer. I think personally I would not have these genes altered in any way. I believe that everyone has genetic uniqueness for a reason. If everyone cures every genetic flaw in their DNA, aren't we making clones of each other? Along with thinking of myself I will have to determine if the genetic background my future spouse has will be worth the risk of us bearing children with "bad" DNA. I think that naturally people look for companions they find attractive, therefore giving their children a higher likelihood of being attractive. However, I would hate to have to bring my genetic map along on a first or second date.
Gert, B., et al. Morality and the New Genetics A Guide for Students and Health Care Providers. Massachusetts: Jones and Bartlett Publishers, 1996.
National Reference Center for Bioethics Literature. The Human Genome Project. Obtained from the WWW 10/08/98: 12/9: http://guweb.georgetown.edu/nrcbl/scopenotes/sn17.htm
Shinn, Roger. The New Genetics. 1st ed. Rhode Island: Moyer Bell, 1996.
Travis, John. Another human genome project: a private company's plan shocks the genetics community.
Travis, John. Biology's periodic table. Obtained from WWW 10/08/98: 03/01/97:
U.S. Dept. of Energy. Human Genome Project Information. Obtained from the WWW 09/30/98: 07/31/98: http://www.ornl.gov/TechRescources/Human_Genome/home.html
Wertz, Dorothy. The Gene Letter. Obtained from the WWW 09/30/98: http://www.geneletter.org/0398/UNESCO.htm