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Decoding of ‘book of life’ promised much but few practical results so far
 WASHINGTON: Ten years ago today, scientists announced that they had unravelled the entire genetic code of a person and thereby decoded the “book of life”.
The stupendous achievement handed humankind the keys to our future as well as the past, promising to revolutionise medicine and dangling the possibility of unlocking the secrets of our evolutionary history.
The promises made in the headiness of the moment have so far remained unfulfilled. But there is still reason to believe that this breakthrough will transform lives in the next decade or so.
The feat was simultaneously achieved by American geneticist Craig Venter, working with his private firm Celera, and a public effort called the Human Genome Project, involving 2,000 researchers in 20 laboratories around the world, led by another American geneticist Francis Collins.
They proceeded to read the order – or sequence – of most of the three billion letters of molecular code which are contained in the genes of an individual.
The term “genome” describes this complete set of genetic instructions, which includes the code for some 20,000 genes.
Dr Venter marked the 10th anniversary of the feat with another announcement – that he had managed to construct the world's first living organism with a completely synthetic genome.
Although genome mapping has been described as a major milestone for humankind, there are precious few practical accomplishments so far.
It was supposed to have inaugurated an era of customised medicine – diagnosis and drugs tailored to the individual. But in fact, it is only lately that a handful of drugs derived from genomic research has streamed into the market.
Among them are “targeted” cancer drugs that can block the effects of genetic abnormalities that produce tumours, an osteoporosis treatment and a yet-to-be-approved drug for treating lupus.
Sure, the knowledge of genetic factors that correlate with diseases such as diabetes or cancer has grown vastly – researchers now know about 700 genetic variations involved in over 100 diseases.
But what has not followed is a healthcare system based on sequencing of the genome, such as identifying those with a higher inherited risk of conditions such as heart disease or cancer.
There is potential, however, in the giant leaps made in being able to map out a genome quickly and cheaply. Decoding the genome was a 13-year, US$3 billion (S$4.2 billion) effort a decade ago but now genome maps can be generated within 15 minutes costing as little as US$1,000. The ease may mean that genome mapping could become part of standard medical records.
“When a truly transformative advance occurs in science, inevitably there will be in the short term an overly optimistic set of predictions,” said Dr Collins, now the director of the US National Institutes of Health, at a news conference.
“But in the long term...the consequences will turn out to have been underestimated. I think that will be true of the Human Genome Project,” he said.
Clinical trials are already building on the genome data. Another area is agriculture, where simple genetic manipulation has yielded hardier and more productive soya bean and other plants. Genomics is also being used to uncover mysteries such as where humans emerged from.
As the scientists poke deeper, it is but a matter of time before they conclusively answer long-standing questions like whether smoking causes lung cancer or if red wine really has anti-ageing effects.
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