A decade later, thanking the genome project

Posted: April 23, 2013 at 6:44 pm

Director of the National Human Genome Research Institute, Eric Green, with a double helix model at the National Institutes of Health in Bethesda | credits: New York Times Service

Eight years of work, thousands of researchers around the world, $1bn spent and finally it was done. On April 14, 2003, a decade ago this week, scientists announced that they had completed the Human Genome Project, compiling a list of the three billion letters of genetic code that make up what they considered to be a sort of everypersons DNA.

To commemorate the anniversary, Eric D. Green, the director of the National Human Genome Research Institute at the National Institutes of Health, spoke about what has been accomplished, what it means and what is coming next. Our conversation has been condensed and edited.

Take us back to that day 10 years ago. Whose genome was sequenced? And why would anyone want to know the genome sequence of some random person? Arent we all unique?

The idea all along was not to sequence a persons genome, but to develop a resource. It would be the sequence of a hypothetical genome, a reference genome. It was meant to represent humanity.

What does that mean? You used human DNA, right? Why was the genome hypothetical?

The way it was done then, we were reading out the letters of the genome, one page at a time, and at the end of the day different pages came from different people. Each page was a stretch of DNA, about 100,000 bases long out of the total 3 billion bases (the four chemicals that make up DNA).

The genome of one person, an anonymous blood donor in Buffalo, was the majority because the guy who was the expert at making a big DNA library the equivalent of those pages was at Roswell Park Cancer Institute, which is in Buffalo.

But if that hypothetical genome was made up of bits and pieces of DNA sequences from lots of different people, what good was it?

It was a reference that could be used for further research. People differ in only one out of 1,000 bases, so that reference genome is 99.9 per cent identical to any persons genome. We used that tool to build sort of a highway map. We could go through it and add information about what was important.

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A decade later, thanking the genome project

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