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Genomics Information Resources

 

Genomics describes the study of an organism’s entire genome (all of the hereditary information encoded within the DNA). Specifically this would involve mapping the complete DNA sequence of one set of chromosomes.

The word ‘genome’ is an amalgamation of the words ‘gene’ and ‘chromosome’ and was coined by Professor Hans Winkler in 1920.

A number of ‘genome projects’ have been undertaken to map the entire sequence of DNA for specific organisms. The first genome project to be completed in 1976 was of the virus Bacteriophage MS2, which has the comparatively small number of just 3,569 base pairs.

The genome is sequenced using a process called shotgun sequencing, which was pioneered by Frederick Sanger to sequence the genome of the Phage Φ-X174.

This method involves breaking down the genome into millions of smaller segments (like a disc blasted by a shotgun). These segments are then analysed individually, then the segments are reconstructed using computer technology to form the original sequence. This technique was utilised in 1995 to sequence the bacterial genome of Haemophilus influenzae, which contained 1.8 million base pairs.

This method of shotgun sequencing was further perfected by Professor Gerald Rubin, who used the technique in 1999 to sequence the genome of the Drosophilae melanogaster fruit fly.

Soon after the process was considered good enough to attempt to map the three billion base pair human genome. There have been numerous announcements in the press between 2000-2007 that the human genome has been mapped – which was the ultimate aim of the human genome project.

Scientists seem to disagree on what constitutes a complete map of the human genome; however, the most recent development was in September 2007, when Craig Venter, and his team published a complete diploid DNA sequence, mapping out the six-billion-letter genome for a single individual. Scientists believe this to be the beginning of a field of individualised genomic medicine.

Indeed the X PRIZE Foundation have said they expect that in the near future, doctors will be able to review their patients entire genome, allowing them to inform of susceptibilities to disease and the best ways to keep healthy. Elaborate high end chromosome vista themes are now becomming more popular with the advent of more advanced operating systems.

The US department of energy (the department who initially funded the human genome project) have published various ethical, legal, and social issues, which may arise from their research. Some of these issues include:


~ Who has access to personal genetic information and how will this information be used?
~ Do people’s genes make them behave in a particular way?
~ What is acceptable diversity and where is the line between treatment and enhancement?
~ Will the patenting of DNA sequences limit the ability of industry to develop useful treatments?

All of these subjects, as well as many besides these, need to be given very careful consideration by all those involved in genomics. The line between what is scientifically possible and what is socially acceptable do not necessarily coincide with one another, so a careful balance between the two needs to be established. Are scientists capable of regulating themselves or is the quest for scientific breakthrough too strong to resist? Does society need to catch up and accept the importance of new scientific discoveries?