A whole new world is about to unfold. A transatlantic joint announcement on June 26, by US President Bill Clinton and Prime Minister Tony Blair of the UK, marked the release of the Book of life - the chemical sequence of the human genome. The Human Genome Project (HGP) - the most ambitious of all biological projects that took 13 years, cost US $250 million, involved 1,100 biologists, computer scientists and technicians working in 16 laboratories in six countries - produced a working draft of the 3.1 billion chemical "letters" that contain the entire biological secrets of human life.
Celera Genomics, a US-based private firm and the International Consortium on Human Genome, a six-country sponsored project, have both come up with the rough drafts of the human genome. But the data obtained by the former is still not in the public domain unlike the latter, that posts all its data on the Internet.
Critics have started raising questions whether this will give birth to a new industry that will cater to the rich and deliver designer children with super intelligence, stripped off genes that are responsible for undesirable looks and such other traits.As the process to read the book starts, future possibilities and hitherto unknown fears have begun to rise. Questions abound - medical breakthroughs, ethics, patents, genetic screening - the future has opened a wide range of possibilities for genetic use and abuse (see Crosscurrents section: p54-59).
The recipe of lifeAlthough a rough draft of the map is ready, but the end of this exercise is only the beginning of the new era that is yet to be revealed. The next step is to figure out what the three billion letters that make up the human genome mean. "If we can understand it, which is very difficult to do, inside this sequence lies the parts list for the human being," says Peter Little of Imperial College, London. Having a parts list does not mean that one can assemble a car. The logic remains same for the human genome.
The list is out there but the real biological challenge is to understand how all the bits assemble to make a human being. And what we need to understand is more than complicated. An assemblage of about 60 trillion cells working under the directions of about 50,000 genes are grouped into 23 sets of chromosomes. The genes are composites of DNA (deoxyribonucleic acid) - or what is better known as the chemical basis of life. A gamut of proteins control all activities of the body and are in turn formed under the directions of genes and as scientists involved in the hgp say - each gene can take about 40 years of study before the mystery unfolds.
The hoopla surrounding the HGP was well expected and it is now known that the first draft of the human genome will be full of gaps. No matter how hard scientists direct their efforts in the next few years, about 10 per cent of the genome is almost impossible to sequence because of its repetitive nature and has been quietly omitted from the all discussions of progress - even though it might contain important information.
A disease-free future?As scientists start reading the Book of life, what will unravel is the information recorded in the 50,000 genes that dictate the terms and conditions of our life. However, medical breakthroughs can be expected only when scientists are competent enough to safely manipulate, replace and repair our genes. Only then can we predict whether our unborn children are likely to be mentally challenged or will get diseases such as cancer, diabetes or haemophilia and devise treatments or therapies to neutralise the effect of such flawed genes.
But all this will take time and breakthroughs cannot be expected overnight. As Francis Collins, head of the International Consortium on HGP says: "The message we are trying to put across is that this is the greatest revolution medicine has experienced since the invention of antibiotics, but its not a revolution that happens overnight." V Ramalingaswami, national research professor, All India Institute of Medical Sciences (AIIMS), New Delhi, adds, "The dream of 'Health For All' may then be fulfilled in the 21st century which the gene technologies can help to fulfill."
But hopes are surging high. Cutting edge research and the sequenced genome might have answers locked in for fatal diseases like cancer, epilepsy, genetically determined mental retardation, haemophilia and others. "Predictive and preventive medicine will become realities increasingly through genes for health as a new strategy in the health care of individuals and populations," says Ramalingaswami.
Who owns the genes?
The mapping of the human genes has also thrown into sharp focus a critical question: who exactly owns the genome, the collection of almost 50,000 human genes. And can companies with access to new computerised gene-sleuthing technologies make an exclusionary patent claim to stretches of DNA without knowing their precise function in the body? The debate is one of the first legal hurdles that await the gene researchers in trying to protect years of costly work. Each of the several hundreds of gene patents issued to date could face a similar challenge from researchers who someday could find out more about the medical usefulness of those genes than the patent holders themselves know.
The pace of patenting of human genes can be assumed from the fact that there are already 20,000 patent applications lying with the us patent office, while Europe is a little behind with only a few thousand applications. The questions that critics are raising, however, are that will these patents strangle or provide a fillip for drug development. Researchers at the Centre for Bioethics in Philadelphia, USA, have voiced their concern: they worry that granting broad patents primarily based on sequence information could prove a disincentive for scientists who do not hold the patent.
Amidst the euphoria of cracking the genetic code of human life, a few nagging questions will invariably act as a downer. Questions like the how the working draft of the entire human genetic code will help the poorer nations and average individuals and whether it will lead to the quest for the "perfect human being."
The fact that there are many skeptics who fear adverse consequences from the mapping is evident from a CNN/Time poll which found that half its respondents believed that there will be negative consequences from the HGP. Many believe genetic information to be extremely private to which government agencies should not be privy. Others fear it might lead to creation of designer babies and unveil a hi-tech era of eugenics. The mapping of the human genome might just bring the world of eugenics within the reach of humans.
Although scientists are busy trying to explain the actual benefits and say it would be years before direct applications will be available, there is no doubt that among the potential benefits will be drugs tailor made for individuals.
For instance, 10 years from now, physicians will be able to screen people to see who is susceptible to illnesses such as stroke or diabetes and begin preventive measures. Fifteen years hence, they could make available tailor made treatment to the genetic make up of the individual. The other question that might surface is whether this would widen the chasm between the developed and the developing countries: where the latter find their access to such cure blocked or the cures prohibitively expensive.