First individual human genome decoded

The first individual genome ever sequenced has revealed genetic variation among humans far richer than previously imagined. The 2.8 billion contiguous bits of genetic code - a complete DNA blueprint of celebrity scientist Craig Venter - have been published in the online open-access journal PLoS Biology.

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Dr Venter, who is both an author and the object of the study, said the findings overturn what had in a few short years become genetic gospel: that all human beings are, genetically speaking, 99.9 identical.

He said it would hasten advances in preventative medicine.

He said within five years, faster and cheaper sequencing techniques could produce complete genomes for 10,000 people, laying the foundation for "an era of individualised genomics".

"Once we have those, we will basically be able to sort out every fundamental question about nature versus nurture, what's genetic and what's environment," he said.

Greater variations

Dr Venter originally said all humans were genetically similar.

In 2000, his biotech firm Celera, which he left in 2003, and a team of US Government scientists simultaneously unveiled the first complete human genome.

Now he and his colleagues say both of these earlier efforts were flawed and greatly underestimated genetic diversity, because the whole had been assembled from a hodgepodge of DNA taken from several individuals.

The variations revealed in the new genome, dubbed, "HuRef", go far beyond previously identified single nucleotide polymorphisms (SNPs), once thought to be the key to differences in human traits and disease susceptibility.

SNPs are DNA sequence variations that occur when a single nucleotide - the basic building blocks, composed in pairs, of DNA - in the genome sequence is altered.

Also important, however, are previously overlooked variations in stretches of genetic code that were once dismissed as useless "junk DNA".

"This dispels the notion we had in 2000 and 2001 that we all have exactly the same genes in the human population," Dr Venter said.

"It would have been very disturbing if the range of characteristics that we see all came down to a few simple SNP variations."

The new data shows that in an individual genome, upwards of 44 per cent of genes are variable in sequence.

"This is a number that geneticists and biologists have been wondering about for 50 to 100 years," co-author Stephen Scherer said.

"HuRef" was built on the foundation of Dr Venter's earlier project, which was already 60 per cent composed of his own DNA.

But it still took an additional $US10 million ($12 million) and three years to complete.

Ethics

Some ethicists have expressed concerns about the possible abuse of personal health information that may be easily accessible once coding individual genomes becomes routine.

The study itself raises the issue, if only indirectly: a table listing some of the traits commonly associated with certain genes expressions found in Dr Venter's genome reveals more than some people might care to.

A genetic propensity toward Alzheimer's and cardiovascular disease, for example, prompted Dr Venter to take statins, a compound thought to help forestall both conditions.

But that same information, or the fact that one tends toward tobacco addiction or alcoholism, other traits identified in the study, could be seen in another light by potential insurers or employers, critics point out.

For Dr Venter, the possible advantages far outweigh such concerns.

"We have all been taught that we should fear this information," he said.

"We hope to teach people they should welcome it as a breath of fresh air that gives them opportunities in their lives."

He did, however, allow for the possibility that anybody's genome information "is relatively easy to get". © 2007 Australian Broadcasting Corporation

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