The Human Genome Project

The DNA that is used for the Project is that of donors. The DNA is usually gathered from many donors, but only a few will be processed, with source names protected. As a result neither the donors nor the scientists know whose DNA is actually used in the laboratories. Since the DNA used by the Human Genome Project has come from a number of donors, the final sequence is a 'reference sequence'. Knowledge obtained from the human reference sequence will be applicable to everyone because all humans still share the same basic set of genes.

Genome sequencing is a very complex process.  Chromosomes, which range in size from 50 million to 250 million bases, must first be broken into much shorter pieces (subcloning). Each short piece is used as a template to generate a set of fragments that differ in length from each other by a single base that will be identified later (template preparation and sequencing reaction). Next the fragments in a set are separated by gel electrophoresis (separation). New fluorescent dyes allow separation of all four fragments in a single lane on the gel. Then the final base at the end of each fragment is identified (base-calling). This process recreates the original sequence of As, Ts, Cs, and Gs for each short piece generated in the first step.

The HGP will aid medical future developments greatly. Molecular Medicine will benefit from improved diagnosis of disease, earlier detection of genetic disease, Gene therapy and control systems for drugs and Pharmacogenomics or "custom drugs”.

Technology and resources promoted by the Human Genome Project are starting to have great impacts on biomedical research. Increasingly, the detailed genome maps are being used by researchers seeking genes associated with genetic conditions, including myotonic dystrophy, fragile X syndrome, neurofibromatosis types 1 and 2, inherited colon cancer, Alzheimer's disease, and familial breast cancer.

Genome information can indicate the future likelihood of some diseases. For example, if the gene responsible for Huntington's disease is present, it is a near certainty that symptoms eventually will occur, although doctors cannot accurately when during a patient’s lifetime the symptoms will begin to start showing. Genome information also helps predict which individuals have an increased susceptibility to disorders such as heart disease, cancer or diabetes and thus precautions can be taken.

In the future, it is hoped that everyone will be able to know about his or her own genome. People will know which diseases they are most susceptible to, and which medicines would be best for them. They may know what their chances of having children with particular conditions are, given their own genome and that of their partner. Although this sounds like a good idea, it might lead to discrimination against some people, because of their genes. For example, some people may find that they can't get medical insurance because they are likely to suffer from a genetic disease later in life.

The Human Genome Project included the establishment of an ELSI (ethical, social and legal implications) Program to study these issues. Many issues have been raised by critics and scientists alike, including how this genetic information should be interpreted and used. Who should have access to it? How can people be protected from the harm that might result form its improper disclosure or use? How will the study of genomics affect society’s concepts of race and ethnicity?

Eugenics involves finding ways of improving the human race. Extensive research on eugenics was ordered by Hitler before and during World War 2. It is thought that with the advancement of the HGP, Genome data could be gravely misused. It is feared that genome data could be computerised and used in all aspects of life, from recruiting employees to creating sub-human races. It is even anticipated that in the future fantasies such as “Robocop” and other specially built, or with genome data, “genetically” designed police officers and soldiers will become reality.

Proteomics is another branch of genomics and it is the large-scale study of proteins, particularly their structures and functions. To catalogue all human proteins and determine their functions and interactions presents a huge challenge for scientists. An international collaboration to achieve these goals is being led by the Human Proteome Organisation (HUPO).

The Genome data gathered from the HGP will aid society greatly in many ways including the development of cures for illnesses and the earlier detection of diseases. However, the data if misused could cause great divisons among societies and create prejudice and discrimination.