'The end of the beginning'

Big day: Clinton congratulates Collins on the "rough draft"

By Ania Lichtarowicz of BBC Science

It will be several weeks yet before the research which brought us a "rough draft" of the human genome finally gets published - almost a year after scientists stood side-by-side with world leaders to announce the landmark achievement.

You could say that we are really at the end of the beginning of genomic research. We're certainly not at the end

Dr Francis Collins

The simultaneous publication of private and public work, as promised by President Clinton, will be maintained. But the details and analysis will be spread across two journals.

A disagreement over the way privateers Celera Genomics intend to release their DNA sequence data through Science magazine has prompted the publicly funded effort to concentrate their papers in the journal Nature.

Little spats aside - and we have got quite used to them now - there should be some more hand-shaking and celebration when the not-quite-finished "book of life" gets its first, major scientific review in the spring. And then? Well, then the work simply goes on.

 Dr Francis Collins announces the rough draft in June 2000: "Today, we celebrate the revelation of the first draft of the human book of life"

Scientists need to find out exactly how many genes are hidden in the three-billion-letter-long DNA sequence of humans. And they need to find out how the genes interact both with each other and with their environment.

Gene discovery

Dr Francis Collins, Director of the National Human Genome Research Institute at the National Institutes for Health, the man who has led the US public effort, predicts this work will take many years - perhaps even all of the 21st Century.

"You could say that we are really at the end of the beginning of genomic research. We're certainly not at the end," he told the BBC.

As this work continues, the data from the publicly funded project are published daily on the internet. This means that researchers all over the world can immediately access the information and start using it in their own studies. And, according to Dr Collins, the data flow is having a huge impact on the rate of scientific discovery.

"I keep a tally of the genes that are responsible for human diseases that are identified over the course of a year. In a good year, in times gone by, there might have been two or three. Last year, there have been 29 discovered."

Crucial to this endeavour are the completed sequences of other organisms - yeast, a roundworm, the fruit fly and the soon to be completed lab mouse, to name just a few.

Tricky questions

"These comparisons allow us to identify the part of the human 'script' that is most important because it is going to be the part that is most similar between most organisms," Dr Collins said.

Even the recently decoded thale cress will help us understand the human genome

"In addition to understanding other organisms, we need technologies that allow us to understand how genes are turned on and off - not just one at a time, but thousands of genes at a time. And we need ways to understand the protein products, which are basically the workhorses that carry out the instructions that the genome possesses."

But with the huge advances in knowledge come some tricky ethical questions: what exactly is an "error" in a person's genome and what sort of corrections should be allowed - assuming this is possible?

"I think one can argue that it is not only ethical to try to use genetics to cure terrible diseases, it would be unethical to stop the effort on the basis of fear of misuse in other situations," Dr Collins said.

"But when you move beyond the treatment of a severe disease, to something that sounds perhaps more like a genetic enhancement, I think everybody starts to get uneasy.

"Unfortunately, there is no bright line between those categories, which will make trying to set boundaries somewhat difficult and challenging. The technologies to do certain things are not with us yet, so we have a little time to deliberate about it."