Scientists have mapped the human genome; what next?

Genetic future!

By Kesara Ratnatunga

Hundreds of scientists worked for over a dec ade in labora-tories around the globe in an attempt to identify and catalogue the over 100,000 instructions called genes locked within every human cell. The race was on to map no less than nature's blueprint for building a human being — the human genome.

The two main competitors in the race made the finish line earlier this year, almost neck-to-neck. Celera Genomics, a private company, beat the publicly-funded Human Genome Project (HGP) to the crunch in April, introducing its rough draft of the human genome, with HGP hot on its heels doing the same in May. Thanks to the efforts of these two ventures it is now possible for anyone in the world to read the entire human genetic code on the Internet.

The HGP, being a publicly-funded project, routinely deposited the genome data it had gathered into GenBank, a public database accessible via the Internet. Celera Genomics used this information to double-check its own genome data and fill in any gaps. As a result the privately owned company had a decided advantage in the race against HGP. 

The research teams involved in mapping the human genome used a technique of breaking up the genetic material found in the cell, analyzing each piece and reconstructing the DNA (deoxyribonucleic acid) strands by matching up the fragments of genetic material. This enabled scientists to uncover the chemical composition (sequence) in each fragment and also the order in which the fragments fit together. This process having taken over a decade to complete, with more than a thousand scientists working together, indicates just how laborious the task was. 

It was a common misconception that when the entire human genome was mapped, all the secrets of the biology of the human being would be revealed. However, this is not the case because merely knowing the chemical makeup of a particular gene does not mean that its functionality is known. It is like knowing how to assemble the parts of a supercomputer but not knowing how each component works. 

Genes are segments of DNA which carry hereditary information. This information is used by the biological machinery inside cells to produce proteins which in turn control the functions of the body. As a result genes instruct the body about everything, from how to grow to how to behave.

The mass of information that has been collected, leaves the biotechnology world with a new problem. How do we use it? bioinformatics, proteomics and pharmacogenomics are the brand new fields of study and industries which have sprung up to 'mine' the vast amount of genetic data.

Researchers are compiling huge databases with information about genes, their structure, activity in various body tissues etc. 

These steps have been taken in a bid to categorise the information in a way that can easily be used in cross referencing and analysis. Making the information 'user friendly' is part of the new discipline of bioinformatics.

A leading pharmaceutical company approached scientists at 'Human Genome Sciences' (HGS) to get help in analysing the genetic material of cells they had obtained from people with bone tumours. HGS scientists sequenced the samples and compared the genetic data they obtained with their own databases. They found a particular genetic anomaly common to these cells. 

The use of bioinformatics in this case, gave the pharmaceutical company a promising target for which a drug could be developed to treat bone tumours. Standard analysis techniques would have taken years to achieve the same results.

The DNA sequence of the human genome reveals only part of the story of what exactly happens inside the body. To get a better picture of how genes function and the effects they have, it is necessary to study the proteins they help synthesise. This study is known as proteomics. 

New drugs, including those which treat cancers, target specific proteins. As a result Proteomics would hold the key to the future of identifying new targets and designing new drugs. The major pharmaceutical companies having latched on to the crucial importance of genomics and proteomics are rapidly forming alliances with smaller organisations specializing in these fields in a bid to access the markets of tomorrow.

Every cell that makes up a living being, you for example, will carry the identical genetic code. The cells of a different being, the person sitting next to you, will have a different genetic code. However scientists believe that 99.9% of your genetic code is common to all humans and that only 0.1% is unique to you. The future of pharmaceuticals, however, could lie in just that 0.1%. 

Many medicines work on only 30 - 50% of the human population, due to genetic variations. In extreme cases a drug which treats one man's illness could be toxic and even kill another. As a result a new industry called pharmacogenomics which will design drugs custom-tailored to the patient's genetic makeup is on the cards. Although this industry is still in its infancy, experts predict it could become a US$ 800 million market by 2005.

The mapping of the human genome is a significant watershed in the sphere of genetics as well as human scientific evolution. The information already gathered would undoubtedly form the foundation for further research into life sciences and play an integral part in paving the way for the discovery of new cures. 

However, most importantly it will bring mankind one step closer towards fully understanding and harnessing the genetic machinery which powers nature's most wonderful creation...life.
 
 

More Plus

Return to Plus Contents