The NHGRI and other genomics centers around the world are currently working on the 1,000 Genomes project, an effort to sequence and analyze 1,000 human genomes. Your new plan proposes a study of a million people. Why so many? Is that realistic?
The more we understand about the genomic architecture of disease, the more we see that some diseases will result from collections of rare variants. So we need more and more statistical power to find causative variants.
Once upon a time, 1,000 genomes sounded crazy. Now there is talk of people sequencing 1,000 genomes a week in their own labs. What ends up being more limiting is what has to happen at either end; getting samples from well-phenotyped individuals [people whose medical history and other traits are well-characterized] and then doing the analysis of their genome.
Right now, genome sequencing is still largely limited to research. One of the goals you outline in the plan is to transition sequencing into clinical applications. How will you do this?
We are starting with pilot projects. We have issued a number of grant requests; one of them focuses on the clinical applications of large-scale sequencing. A big barrier will be how to meld genomic info into the development of electronic medical records.
One of the criticisms of the Human Genome Project is that after 10 years of research, it hasn’t yet yielded new medical treatments. Is that a valid criticism?
I feel bad if our enthusiasm and euphoria over completing the genome project was misinterpreted to mean that we would have cures 10 years later. But we have made unbelievable progress. Looking back from 2003, genomics is in such a different place.
Our new plan is meant to be realistic. We don’t want to make promises that spectacular advances in medicine will happen over the next five to 10 years. It’s more like over the next 10 to 20 years.
Can you give an example disease that illustrates the success of genomics?
Crohn’s disease. Ten years ago, this disease was so opaque. But a modest number of studies completely changed the course of the investigation of that disease. The research has pointed toward drugs that previously wouldn’t have been linked to the disease. Similar things are happening in diabetes and heart disease.