44 % of the human genes differ from person to person

Sep 4, 2007 08:47 GMT  ·  By

This is one of the greatest discoveries since the emergence of genetics: the first individual human genome ever sequenced, a complete personal DNA blueprint. The famous researcher Craig Venter has found a much higher genetic variation among humans than scientists had previously believed.

"The 2.8 billion contiguous bits of genetic code will also hasten advances in preventative medicine," said Venter, also co-author of the research.

"Within five years, faster and cheaper sequencing techniques could produce complete genomes for 10,000 people, laying the foundation for an era of individualized 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 added.

The new research wiped out the widespread concept that all humans are genetically 99.9 % alike. Venter was one of the first to advocate this in 2000 after the completion of the first map of the human genome, a project in which he was also involved. But those works significantly underestimated genetic diversity because the whole was the result of DNA samples achieved from several individuals.

The new genome, called "HuRef", shows more complex differences than previously detected single nucleotide polymorphisms (SNPs) (changes of just one nucleotide, the building molecular bricks of DNA), which determine simple mutations, once believed to be the main cause of differences in human traits and disease vulnerability.

It seems that changes in the previously disregarded "junk DNA" are equally important.

"This dispels the notion we had in 2000 and 2001 that we all have exactly the same genes in the human population. It would have been very disturbing if the range of characteristics that we see all came down to a few simple SNP variations," said Venter.

Now it appears that individual genome can vary from individual to individual up to 44 % of genes.

"This is a number that geneticists and biologists have been wondering about for 50 to 100 years," said co-author Stephen Scherer, a geneticist at The Hospital for Sick Children in Toronto.

The 2000 human genome project was already made in a proportion of 60 % on Venter's own DNA and "HuRef" was finished based on this support, an additional sum of $10 million and 3 years.

Many are concerned that personal gene health information could become a routine and would lead to genetic discrimination. Venter found on his genome a genetic propensity toward Alzheimer's and cardiovascular disease and he has started taking statins, drugs forestalling both conditions.

But insurers or employers could use data of genetic diseases or propensity to them or addictions. Still, the advantages could be much higher.

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