The Human Genome Project

One of the biggest problems with the project was the need to find an appropriate method to sequence the human genome. It is estimated that 95% of the human genome is junk, and do not code for polypeptides – these are called introns. Therefore the remaining 100,000 genes would be identified first using a technique called base sequencing. Firstly, the DNA is sheared into short fragments. The fragment is then ligated (the process of DNA insertion) into a loop of nonessential bacterial DNA called a plasmid. The plasmids are then inserted into E. coli bacteria and multiplied. Now a “library” has been created. The next step is known as template preparation, and here the DNA is purified and sequencing chemistries are conducted on it whereby DNA fragments are dyed with fluorescent markers and ordered in sequencing machines when overlapping base sequences appear. Finally the results are verified, annotated and submitted to public databases ready for sharing.

The results of the HGP are like a massive manual of how the human body works. This means it is set to have dramatic effects in the field of medical science. Genome based research will lead to doctors having better diagnostic tools, highly effective medicines and the ability to “understand the health needs of people based on their individual genetic make-ups”. Doctors will be able to produce individualised analysis on a person’s genome meaning effective preventative medicines can be produced. Also, a person’s future health problems can be predicted from their genome, meaning necessary precautions can be taken before it is too late such as diet or lifestyle changes. This ability to analyze an individual patient’s genome will not only arise from the results of the HGP but also from the techniques it developed. Secondly, the project has given scientists a better molecular understanding of diseases like diabetes, kidney failure and heart disease. Therefore, with this knowledge medical companies can produce effective treatments in a relatively short period of time without the need of such intensive and expensive testing.

The beginning of the HGP sparked an intense bioethical debate concerning its social, moral and cultural impacts, and is seen by many as being a threat to the sanctity of human life. Firstly, if the HGP reveals the causes of diseases such as diabetes, then millions of people will find a relief from a disease that has plagued their lives as they could have the medical opportunities to correct their genes. Also pinpointing the genotypes (alleles possessed by an organism) for obesity could not only help improve your medical health, but also improve your self esteem. However, can we “defend the distinction between medical therapies that treat and those that enhance?”. If the genes for shortness were detected, people could get medical treatment to change their undesirable physical traits and could create a eugenic society. In religious terms, this result of the HGP would completely undermine God’s intentions, spiritually, it would remove the sanctity of human life, and socially, it would create a world with no diversity as everyone will want physical perfection.

Another issue is that concerning pre-implantation genetic diagnosis. Mothers have the ability to check the health of their babies before they have been born, such as whether they have inherited diseases like cystic fibrosis. This can be done through the use of prenatal tests like the alpha-fetoprotein test, where the presence of a special protein is checked, with abnormal amounts indicating spinal or brain deformations. With the results from the HGP, a whole new series of tests could be created to check for every disease possible in the growing foetus. This could prevent children from growing up being victims of a disease and would make their lives a lot more bearable. Also the child’s family will be spared the heartache of finding out their new born baby is blind or deaf. However, ethicists think this would spoil the unconditional love a mother is supposed to have for a baby when she chooses to refuse and kill it when there is something she doesn’t like about it. This would also undermine the rights of the unborn baby who could cope with the disease and live a life of happiness. Moreover, “in some countries in which the culture values boys more than girls, ultrasound and amniocentesis [an examination of cells surrounding the foetus] are used mainly to check the sex of the foetus”. This could create abnormal male to female ratios in certain countries leading to a future population crisis.

To conclude, it is clear that the HGP required intensive human effort to reach its completion and the techniques required will be able to have future applications in medicine and genetics. While some people would argue that the project carries no moral responsibilities, I believe its potential effects in vaccine making and disease prevention outweigh the possible exploitation of its results. Also with government intervention in the form of laws and sanctions the uses of the HGP could be regulated to ensure that people don’t use it for immoral effects.

Bibliography:

1. Timothy F Murphy, 1994, Justice and the Human Genome Project,
2. Catherine Baker, 1999, Your Genes, Your Choice, Chapter 4, Science + Literacy for Health
3. http://www.genome.gov/11006943
4. http://www.ornl.gov/sci/techresources/Human_Genome/graphics/DNASeq.Process.pdf
5. http://www.hgsc.bcm.tmc.edu/projects/
6. http://www.ornl.gov/sci/techresources/Human_Genome/elsi/elsi.shtml