Personalised genomics: The DNA sequence revealed that Venter has a propensity toward Alzheimer's and cardiovascular disease, and prompted him to take statins, compounds thought to help prevent both conditions.
Credit: PloS Biology
PARIS: The first individual genome ever sequenced – a complete DNA blueprint of celebrity scientist Craig Venter – has revealed genetic variation among humans far richer than previously imagined.
Earlier efforts to sequence the human genome used DNA from a group of people; one of whom was also Venter.
Published Tuesday in the free-to-access journal PLoS Biology, the 2.8 billion contiguous bits of genetic code will also hasten advances in preventative medicine, said Venter, who is both an author and the object of the study.
10,000 genomes
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," he said. "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."
The findings overturn what had in a few short years become genetic gospel: that all human beings are, genetically speaking, 99.9 identical. Venter himself trumpeted this idea in 2000 when both his then biotech firm Celera, and an international consortium of government and charity scientists simultaneously unveiled the fist complete human genome.
Both of these earlier efforts were flawed and greatly underestimated genetic diversity, he and his colleagues now say, 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 of DNA, composed in pairs – 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'.
Greater variety
"This dispels the notion we had in 2000 and 2001 that we all have exactly the same genes in the human population," said Venter, now at the J. Craig Venter Institute in Rockville, Maryland. "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 have variable sequences. "This is a number that geneticists and biologists have been wondering about for 50 to 100 years," commented co-author Stephen Scherer, a geneticist at The Hospital for Sick Children in Toronto, Canada.
"HuRef" was built on the foundation of Venter's earlier project, which was already 60 percent composed of his own DNA. But it still took an additional 10 million dollars and three years to complete.
To spur more efficient technologies, Venter has contributed half a million US dollars to the 10 million dollar Archon X Prize for scientists who come up with genome sequencing techniques that are rapid, accurate and inexpensive.
DNA data protection
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 Venter's genome reveals more than some people might care to. A genetic propensity toward Alzheimer's and cardiovascular disease, for example, prompted Venter to take statins, a compound thought to help forestall both conditions.
But that same information – or the fact that a person tends towards traits such tobacco addiction or alcoholism – could be seen in another light by potential insurers or employers, critics point out.
For Venter, the possible advantages far outweigh such concerns. "We have all been taught that we should fear this information. We hope to teach people they should welcome it as a breath of fresh air that gives them opportunities in their lives," he said.
He did, however, allow for the possibility that anybody's genome information "is relatively easy to get."
