The Logic behind Genome Studies
Much research into the genetic contributions to common diseases has started with the seemingly logical assumption that DNA variants occurring frequently in the human population would be at fault. Some argue, though, that this reasoning is faulty. Image: Bryan Christie
- In the year 2000 leaders of the Human Genome Project announced completion of the first rough draft of the human genome. They predicted that follow-up research could pave the way to personalized medicine within as few as 10 years.
- So far the work has yielded few medical applications, although the insights have revolutionized biology research.
- Some leading geneticists argue that a key strategy for seeking medical insights into complex common diseases—known as the “common variant” hypothesis—is fundamentally flawed. Others say the strategy is valid, but more time is needed to achieve the expected payoffs.
- Next-generation methods for studying the genome should soon help resolve the controversy and advance research into the genetic roots of major diseases.
A decade ago biologists and nonbiologists alike gushed with optimism about the medical promise of the $3-billion Human Genome Project. In announcing the first rough draft of the human “book of life” at a White House ceremony in the summer of 2000, President Bill Clinton predicted that the genome project would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”
A year earlier Francis S. Collins, then head of the National Human Genome Research Institute and perhaps the project’s most tireless enthusiast, painted a grand vision of the “personalized medicine” likely to emerge from the project by the year 2010: genetic tests indicating a person’s risk for heart disease, cancer and other common maladies would be available, soon to be followed by preventives and therapies tailored to the individual.
This article was originally published with the title Revolution Postponed.