Human Genome at 10

It has now been 10 years since the the announcement that the mapping of the human genome was complete. There is little doubt that this was an incredible and conceptually significant scientific accomplishment. The project, however, has so far been almost a complete failure in achievement or even meaningful progress toward its primary stated goal, to make rapid and substantial headway in preventing, diagnosing,  and treating human disease as a result of our new knowledge.

Nicholas Wade, writing in the New York Times, in an article marking the 10th anniversary of the human genome, concludes: “after 10 years of effort, geneticists are almost back to square one in knowing where to look for the roots of common disease.” He provides the following example:

One sign of the genome’s limited use for medicine so far was a recent test of genetic predictions for heart disease. A medical team led by Nina P. Paynter of Brigham and Women’s Hospital in Boston collected 101 genetic variants that had been statistically linked to heart disease in various genome-scanning studies. But the variants turned out to have no value in forecasting disease among 19,000 women who had been followed for 12 years.

The old-fashioned method of taking a family history was a better guide, Dr. Paynter reported this February in The Journal of the American Medical Association.