The Story's Not Over Yet

The story of the human genome didn't end on June 26, 2000 or on April 14, 2003, says Francis Collins in a Scientific American guest blog. This particular story has no ending, he adds, but is "an epic drama being played out year after year" with new chapters, sequels, and volumes being added all the time. Collins says we shouldn't dwell on what hasn't happened yet in genomics and genomic medicine, but instead look at the glass as half full and "growing fuller every day." The cost of sequencing is going down, and we'll soon be at a point where we can sequence an individual genome for $1,000; we have predictive genetic tests for about a dozen conditions and more are being developed; and GWAS are being used to uncover genetic causes of common diseases. All of these things, Collins says, show that we have come a long way from the human draft genome. But, he acknowledges that there is still a long way to go. Researchers still have to understand what genetic variants are important and what they really mean for disease. And the role of genomics in cancer and neurodegenerative disease research hasn't been completely defined yet. "It is my hope and expectation that over the next one or two decades — or however long it takes — genomic discoveries will lead to an increasingly long list of health benefits for all the world's peoples," Collins says.