The sequencing of the human genome represents the most significant breakthrough in healthcare over the past 40 years, according to Modern Healthcare readers.
That achievement, capping a 13-year, $3 billion international effort funded by the federal government, drew the most votes from the 728 respondents to a survey that listed 60 healthcare milestones achieved since Modern Healthcare was founded in 1976. The survey asked readers to pick their top five choices from each of three categories: science and technology; healthcare delivery; and politics and policy.
The top choice of the Human Genome Project reflects a growing recognition of its importance to advancing medicine, something that wasn't readily apparent when it was officially completed in 2003, said Dr. Francis Collins, who ran the project for the government and is now director of the National Institutes of Health.
“It's not something that immediately changed healthcare,” he said. “Shortly after this process was completed, there were a bunch of responses that this was overhyped. It was the big fizzle.”
But Collins said that when it comes to technology, “Any major advances always have their consequences overestimated in the short run and underestimated in the long run.” And the tide has turned on the perception of genomics, reflected in its selection in the poll.
“I think it's a sense of the historical nature of what this means,” Collins said. “For all of human history, we have labored without understanding our instruction book, and the human genome provided that. It's like crossing a bridge.”
Collins was put in charge of the Human Genome Project in 1993, three years after its launch, when he took over as director of what is now called the National Human Genome Research Institute from famed genetics researcher James Watson. “It will find its way into the practice of medicine,” Collins said. “Maybe the case in five years (will be) that all of us being prescribed a drug for a condition will want to have our genome checked to see that it's the right drug for us”—part of what's being called precision medicine.
The sequencing of the human genome, chosen 416 times by readers, narrowly nudged out the next most important achievement, magnetic resonance imaging, which drew 403 ballots. Neuroradiologist Dr. William Bradley, former radiology chair at the University of California at San Diego, began working with MRIs when they first surfaced during his residency in the 1970s. “The workhorse of medical imaging right now is MRI,” Bradley said. “There's no radiation and you have superb soft-tissue contrast. . . . The idea of cutting things open to see what's going on is a thing of the past."