The human genome project by Pei Jun

The Human Genome Project

       The Human Genome Project, abbreviated to HGP, is a research project started by the United States Department of Energy and the National Institute of Health. This project was formally started in 1990 and was supposed to span a total of 13 years. But only in the year 2000 was a working draft developed and only in the year 2003 did they successfully complete was a complete sequence announce. So what is the HGP?  The HGP is actually an international collaborative research program whose main goal is to completely map the human genome and understand every single one of the human genes. The idea of this project was first thought of by two scientists in the mid 1980’s. These two scientists were a biologist from the University of California, Robert Sinsheimer, and Nobel laureate Renatto Dulbecco. The project was pushed into action when Robert held a symposium in 1985 which influenced Renatto to push for a comprehensive genome project in order to aid in the fight against cancer. For this experiment, several anonymous volunteers provided their DNA samples for sequencing. The volunteers came from a diverse range of people and the samples that were picked for the project was done so at random without the knowledge of which the sample belongs to. The whole project was completed with the participation of many different international institutes which includes the Department of Molecular Biology, Keio University School of Medicine, Tokyo, Japan, Stanford Genome Technology Center, Stanford, Calif., U.S. and, many other universities and institutes. They

       That being said, the big question that is raised on this research is why it is being done in the first place. Well, there are a few objectives to this project but the main reason is as stated above, to completely map the human genome which consist of up to 200,00 to 25,000 genes in the DNA. This is done so as to be able to determine the sequence of the 3 billion chemical base pairs that forms the human DNA. After this is done, all these information will be stored in a database. This research is also done to improve the technology which is used for data analysis. Currently the human genome has been completely sequenced within the boundaries on the technology that we have right now. There are still some small gaps in the genome that cannot be sequenced using the current methods and new techniques and technologies will have to be used to totally complete the work. But even though the sequencing is not complete, the gene containing portion of the genome can already be used for scientific research and is freely and publicly available as it is already complete in almost every functional way. Though the HGP is now more or less complete, work is still being done to find and use new technologies to fully fill in the current holes left in the research.

  

       Before going further, there are certain things that need to be explained first. So what is a genome? Well a genome is the complete set of the DNA of an organism and it contains all the genetic information necessary to develop and control all activities in every single living organism and all DNA molecules exist as a pair and this is known as a base pair. All different organisms have different amount of base pairs and human have about 3 million different base pairs which is contained in 23 chromosomal pairs which is placed in the nucleus of all the cells. And the work that is being done in the Human Genome Project is to sequence all of these base pairs. Gene sequencing is the process of determining the exact order in which the base pairs are placed in the DNA. The method used to sequence the genome is through map-based, or bacterial artificial chromosome (BAC) based, sequencing. In this method, the DNA is broken into fragments, though they are still quite big, which are about 150,000 to 200,000 base pairs and then these fragments are cloned inside bacteria’s to obtain a large enough amount of DNA to be sequenced. A collection of the BAC clones which contains the whole human genome is known as a BAC library.

       In the sequencing step, the BAC clones are further fragmented into smaller pieces that are about 2,000 base pairs in length and then a sequencing reaction is done on these pieces, which are known as subclones. After the sequencing reaction, the products of the reaction are then placed into a sequencing machine which will generate 500 to 800 base pairs of each bases; adenine, thymine, guanine and cytosine, from each sequencing reaction, which will be sequenced up to 10 times for each base.   

       So what benefits has the human genome project brought to us? Well, with the human genome more or less completely sequenced, medical science can be further developed to the next level. How is this possible? With the full sequence of the human genome, scientist can now begin to study how the genes in a person work with each other and this can lead scientist to discover the how our genes affect our health as well as the way pathology of human diseases. With these information in hand, it will be possible to develop highly effective diagnostic equipment and this will eventually lead to the development of personalize medicine, which is medicine develop based on the genetic makeup of an individual, as well as more efficient treatment for certain diseases. With this is mind, in the near future, each and every different individual will be able to get the best possible treatment based on their DNA instead of the generalized treatment that everyone gets currently. This form of medical treatment means that we will be able to get the best possible treatment for ourselves. This also means that health care professionals will be able to focus on other ways to help us maintain our health instead of just making us take medications. But the process of introducing new drugs, or medicine, is not an easy process and it involves a lot of time to make, up to about 10 to 15 years.

       Aside from being able to one day provide better healthcare for the public, the HGP has also changed the way the way that biological research is done. In the past, biological research is a very independent and individualistic enterprise with scientist, and/or researchers, performing their projects or investigations mostly by themselves. But due to the magnitude and the amount of funds that were needed to conduct this research, this prompted the HGP to assemble many different interdisciplinary teams all around the world. This has resulted in a large scale, cooperative effort which involves multiple different organizations and institutions from many different countries working together in any genome related projects.

       As the human genome has been completely sequenced, currently new research is being done in the field of genomics and these new research are separated into a few different divisions. Among the new fields of research includes genomics to health, genomic to society and a few others. As one can deduce from its name, genomics to health is the involvement of genetics into healthcare. This division of genomics deals with the knowledge of how the environment affects us based on our genes and how it can be used to predict the susceptibility of diseases in an individual.

       On the other hand, genomics in society deals with the exploration of the ethical, legal as well as social implications of the research into genomics. Among these includes defining the policy options regarding the use of genetic information in the medical and the non-medical field as well as doing analysis of the impact of genomics on the society.

       But even though it seems that the human genome project will bring a lot of benefits to humankind, but there are still a few disadvantages to this project. The main concern that certain people in the research community have with this project is mostly due to the amount of funding required to complete the project. At the time this idea was coined, critics believe that to successfully sequence the entire human genome required too much funds, funds which they did not have at that time. The whole project requires a total of 3 billion USD to complete, which in short is 1 USD for 1 base pair. They believed that it was not a good idea to use that kind of money as only about 5% of the human genome contains areas with coding regions. Thus they believed that the sequencing of a huge number of non-coding DNA did not have much as high a priority as other research that was being done at that time. But a compromise was reached in this matter. It was decided that, in the wake of current affairs, that the HGP was first carried out on certain known regions of the DNA which contains coding regions and only when they had the funds, the whole human genome can be sequenced.

       Aside from the matter of cost, some people also expressed their concern over the fact that being able to determine a genetic disorder before a diagnosis could be found could bring more harm than good. This is because it may cause an individual who was found to carry a genetic disorder before any treatment method could be found would cause that individual to suffer from anxiety and frustration and may lead to unwanted effects. And in a way true, as with the completion of the sequencing of the human genome, researchers have been able to identify and isolated several new disease causing mutations, but they were not able to find a suitable treatment for that disease. So if an individual does suffer from that disease, nothing can be done for them and they must continue to suffer from that said disease. But some may also argue it is better to know than being left in the dark about their condition. This is because if they know what is wrong with them, these individuals will at least have some peace of mind about their condition. With the knowledge of their disease, they can also better cope and alter their living condition as well as know what to and not to do. Even though there is no cure they can at least manage themselves better.

      

       But in my opinion, the biggest problem with the HGP is regarding the human mentality. What exactly does this mean? It simply means that some people, in knowing their genetic makeup, may feel that they are now limited to what their genes tells them and they may start seeing themselves as being under the control of their genes. This can lead to people feeling like they have a will of their own and only do what their genes tell them. This can lead to a deterrent of the human spirit, the essence of an individual. They will now not have a mind of their own and all their actions will be wholly influenced by their genes and not what they really want or think. This kind of thinking can also lead to another major problem, eugenics. Eugenics is a science involved in the improvement of live through the control of human mating based on an individual’s race, breed and also their genes. This belief is a way of thinking that people with genetic defects or certain undesirable traits should not reproduce as they may have the possibility of passing over that undesired gene to their offspring. This is a total disregard for human rights and can also lead to discrimination by the community in the case that your genes are so called “undesirable”. This kind of thinking is also somewhat like that of the Nazi’s in the way that they pick out the people with certain characteristics and the people who have none are treated cruelly. Thus to avoid this, the people need to be educated that our genes will not determine who we are and that what is written in our genes is not absolute and that many different factors can affect our being.

       So with that aside, it is now important to see this research in the context of the four principles of research ethics to see the results of what will happen in the case that the HGP breach any of the four principles of ethics in research. Firstly one should consider the first principle which is of autonomy, or in other words respect. As it was explained above, as different people have different thoughts and perspective, some may find that due to their genes they are better than others. With that said, it can lead to the discrimination and wrongful treatment of people that these so called “superior” individuals feel that are of a lower class than themselves. This can be a major problem as it can lead to a time similar to that of the Nazi rule. These people will look down on anyone who have or do not have a certain gene or trait. Another problem which can arise in the context of this principle is that some people may start to feel that they have no value and are useless by themselves even though no one else thinks so. This can lead to a decline in confidence and moral in some people. And finally, this may also lead to people thinking that they are wholly limited to their genes and in a sense lose their sense of freedom.

       The second principle of ethics in research, beneficence or do good, is separated only with a very thin line with the third principle of ethics in research, non-maleficence or in layman’s term which is do no harm. It has it not very clear which one takes precedence over the other. This is because people may argue that one cannot do good without doing harm, while some believe that one should not do good if it will bring harm to someone. So it is not very clear which way of thinking is the better one and it is totally up to the individual. This is also the same in the case of the HGP. Some can argue that they are doing the project for the better good since if we are equipped with the knowledge of the human genome; it is possible to help humankind in many different ways such as in the medical field.

       But some may also argue that, with this knowledge certain individuals may take advantage of this knowledge and try to bring harm to the masses. This reasoning also coincides with the first principle of ethic as some may take advantage of their genes. Aside from that, with this knowledge, it will also make it difficult to uphold the law. Why is this so? Well, with the advancement of genetic knowledge, criminals may use this to their advantage and argue that their actions were due to their genes and they had no control over it. This can cause a lot of problems for the court to pass judgments.  So as it is, it is hard to say which principle we should follow as both sides have valid arguments regarding this project and no decisions can be made at this moment.

       And finally the last principle of ethics that need to be considered is regarding justice and fairness. The HGP has brought on a few issues regarding this principle, mainly on the fact that the samples used to conduct this project may not really represent every single individual in the world. As the amount of samples used are of those who donated their DNA, and then the samples were then further reduced and picked at random, the data obtained may only be true for a certain group of people. in the best case, the results may be true for most people but there may still be a small possibility that it may not be true for a small group of individuals. This may lead to an unjust result if these people had their genes tested and are given a result that is not true.

       But there was no problem during the selection process of the sample and it was done at random. There were no discrimination and the samples selected were had not selected based on a person’s race, gender, condition and any other forms of discrepancy. No individual was harmed as well during the course of this experiment and only their blood samples were taken for testing.

       So in conclusion, the HGP has garnered many different opinions from opposing sides of the spectrum. Not one group can be said to be right or wrong. Both sides have their own points as to why this project should or should not be carried out. But in all fairness, nothing wrong has been done or has occurred due to this project. And as to keep it that way, the government should consider educating the masses about the possibilities of the HGP and also educate them about all the things that certain groups has any doubts on to prevent any unwanted situations to arise. Is this can be done, the HGP could really bring a lot of benefits to the masses and it can further improve the way of life of humankind. One can also not deny the possibilities that this project can bring. Thus if everything is done to ensure that no misunderstanding and no one will take advantage of this knowledge, the HGP will answer a lot of questions about mankind.

REFERENCES:

National Human Genome Research Institute, 2011. What Was the Human Genome Project [Online]. Available from: <http://www.genome.gov/12011238> [Accessed on 15 October 2011]

National Human Genome Research Institute, 2010. The Human Genome Project Completion: Frequently Asked Questions [Online]. Available from: <http://www.genome.gov/11006943> [Accessed on 15 October 2011]

National Museum of Health, America, n.d., Ethical Issues of The Human Genome Project [Online]. Available from: <http://www.accessexcellence.org/RC/AB/IE/Ethical_Issues_of_the_HGP.php> [Accessed on 16 October 2011]

 Paul, B., 2007.Origins of the Human Genome Project: Why Sequence the Human Genome When 96% of It Is Junk? The American journal Of Human Genetics, 79 (4), 603-605

Tim, W., 2000. The Human Genome Project and Its Ethical, Legal and Social Implications [Online]. Canada Science and Technology Department. Available from: <http://dsp-psd.pwgsc.gc.ca/Collection-R/LoPBdP/BP/prb0008-e.htm#2.%20Ownership%20and%20Commercialization> [Accessed on 16 October 2011]

U.S. Department of Energy's Human Genome Project, 2011. About the Human Genome Project [Online]. Available from: <http://www.ornl.gov/sci/techresources/Human_Genome/project/about.shtml> [Accessed on 15 October 2011]

Wellcome Trust Sanger Institute, 2011. The Human Genome Project: a new reality [Online]. Available from: <http://www.sanger.ac.uk/about/history/hgp/> [Accessed on 15 October 2011]