For those of you who like stories with simple plots and tidy endings, I must confess the tale of the Human Genome Project isn't one of those. The story didn't reach its conclusion when we unveiled the first draft of the human genetic blueprint at the White House on June 26, 2000. Nor did it end on April 14, 2003, with the completion of a finished, reference sequence.
Instead, human genome research is an epic drama being played out year after year, in sequel after exciting sequel, as scientists continue to make new discoveries about the role of our DNA instruction book in health and disease.
The First Law of Technology says we invariably overestimate the short-term impact of a truly transformational discovery, while underestimating its longer-term effects. Indeed, that appears to be true about the sequencing of the human genome. Many news articles are coming out right now reflecting upon what has—or hasn't—happened in the decade since we announced the first draft sequence. Cynics tend to view the immediate health benefits from genomic research as a glass half empty, but I see a glass half full—and growing fuller every day.
For me as a physician, the great appeal of the Human Genome Project was the opportunity it offered to seek answers to some of medicine's biggest puzzles. Today, as I look across all fields of biomedical research, it is clear that genomics is helping to piece together many of those puzzles. Whether their work focuses on cancer, diabetes, infectious diseases, mental illness or other conditions, researchers are using tools that have sprung out of the Human Genome Project to identify the molecular causes of disease and to develop new strategies for diagnosis, treatment, and prevention.