Human Genome Project was formed by the US section of Energy and other Human Genome Programs. The project began in 1990 and was to last for 15 years but technological improvements led to its early completion in 2003. Its main aim was to distinguish human genetic material by finding out the whole sequence of DNA in the human genome and to find out and record all human genes, which are about 3500 in number, to make them available for advanced biological study. The researchers further focused on the genetics of other living organisms to interpret more on human gene purpose. This paper focuses on the Human Genome Project and DNA technologies as well as how they will change medical diagnostics and treatment in the future.
Purpose of the Project
Tuzun1 confirms that the project’s main goal was to discover all human genes in DNA, to find out the order of about three billion pairs of elements that create up human DNA. The information was later to be stored in databases for future references and to develop better tools for data analysis. The federal government was also dedicated to introducing the project to the private sector. A genome is the DNA and genes found in an organism. Genes contain the order in which organisms make and use proteins. The proteins determine the shape of the organism, how it behaves and fights infection. “DNA comprises of four similar bases: A, T, C, and G” 2. The human genome, for instance, contains almost three billion pairs of these bases. The order of these bases determines whether the organism is a human being, a plant, or even an insect. Organisms are differentiated from others through similar DNA orders.
According to Venter 2, the researchers were able to put the human genome into a sequence by using the hierarchical shotgun method. They split many copies of genomes into small base pairs. A physical map was used for creating and analyzing huge amounts of DNA data, which was arranged in a sequence from the shotgun phase. The finishing stage involved filling up the gaps and determining the DNA sequences in the remaining areas that did not give results after the shotgun phase. In short, the shotgun phase contained three phases: getting a DNA clone to sequence, sequencing the clone, and gathering sequence data from numerous clones to find out overlap and create an adjacent sequence.
Many labs all over the globe started to produce DNA sequences. The researchers discovered that the human genome sequence might improve medical treatment. Later, the researchers together with other collaborators discovered genes linked with breast cancer named BRCA2. The US researchers located the gene which raises the risk of colon cancer, which was known as MSH2, and another group of researchers in Canada discovered the FAD which is linked with Alzheimer’s disease 2, 3.
In this regard, the Human Genome Project has raised new ways and concerns of understanding genetics. The researchers are now able to predict diseases through genetic testing and prevention of the diseases. It will be possible to test the nature of the disease, come up with new treatments on top of the available ones because treatments will be supported by each individual’s genetic makeup. Steward 4 affirms that nurses are now using the antenatal and neonatal screening programs which are genetic. Moreover, it is likely that in the future, nurses will depend more on genetic treatments, and thus there is a need for focusing on opportunities put forward by new genetics. There is a need to educate these nurses as well as other medical specialists and practitioners on the new techniques. Furthermore, genetic counseling will be essential for those patients who will undergo genetic testing.
In addition, the Human Genome Project has led to the discovery of many technologies and will aid in biomedical research particularly in the development of clinical medicine. The genome maps have helped and will continue to aid researchers to research more on genes that are related to several genetic diseases such as Alzheimer’s disease and other inherited diseases like breast cancer. The doctors will focus more on the causes of diseases rather than treating the symptoms. Rapid and more particular diagnoses will enable the doctors to treat unknown diseases which are likely to occur. Julia and Scott 3 agree that the researchers will also be able to develop therapeutic systems based on new groups of drugs, immunotherapy procedures, study environmental conditions which are likely to cause disease, and possible replacement of faulty genes using gene therapy technology. Individuals who are born with some traits are not likely to display them after genes replacement. It will also be easy to research human evolution after a thorough, genome map has been produced.
How the project will transform medical diagnostics and treatment in the future
Understanding in detail the human genomes will have a positive impact particularly being able to evaluate the risks that humans face when they are exposed to toxic agents such as harmful gases and fumes released in the air. Scientists have discovered that harmful agents may not affect some individuals while others are affected because of their genetic differences. The HGP technologies will also help the researchers to assess the harm caused by radiation exposure and find out the toxins associated with cancer. They will also help in matching individuals for example establishing paternity and other related issues. It will be easier to understand human evolution and migration. Similarly, scientists will be able to know how human beings have changed and evolved and predict how they will evolve in the future 5.
Researchers have come up with other projects such as Single Nucleotide Polymorphism to identify the unique differences that are found in human beings particularly in their genetic make-ups. The differences in DNA sequences affect how different individuals develop diseases and respond after taking some drugs and injections. SNP has further identified that many diseases that affect human beings are not due to one genetic difference in a single gene but are also caused by complex connections between multiple genes.
In conclusion, the HGP will have a positive effect on humans and other organisms. There are many favorable outcomes in the future. There are some negative aspects of these projects which may occur especially when some patients discover that their genes are faulty and they might develop rare diseases, but the beneficial effects still overshadow the negative ones. HGP project is likely to change medical diagnostics and treatment and thus reduce the harm and suffering that is likely to occur due to genetic diseases. Using information got from HGP, the doctors will be able to tailor treatments and medicine that fit each individual. We have seen that there is a great probability that doctors will be able to predict using advanced technology the diseases that humans are likely to develop. This information will be used to minimize the occurrence of the disease or rather prevent it. Genetic engineering will also be useful in other areas such as agriculture and animal production and thus it will be useful to society as well.
Tuzun E. et al. Fine-scale structural variation of the human genome. Nature Genetics. 2005; 37 (7): 727–737.
Venter D. A Part of the Human Genome Sequence. Science. 2003; 299 (5610): 1183–4.
Julia ER, Scott RH. Human Genome: A users Guide. New York: Academic Press/Elsevier; 2010
Steward S. A short Guide to Human Genome. New York: Cold Spring Harbor Lab Press; 2008.
Carroll, SB et al. Regulating Evolution. Scientific American. New York: Scientific American Inc. 2008; 60–67.