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DNA inside a syringe on a blue background.

Twenty years ago, Dr. Francis Collins, who was then director of the National Center for Human Genome Research, made rosy predictions in his Shattuck Lecture about the health benefits sure to flow from the Human Genome Project. His paper on the lecture, “Medical and Societal Consequences of the Human Genome Project,” published in the New England Journal of Medicine, provided an early template for the precision medicine narrative of the past two decades.

As we wrote last week in a Viewpoint in the Journal of Clinical Investigation, these predictions haven’t come to pass.

Collins’ fundamental idea was that the technology and insights of the Human Genome Project would demonstrate tight causal links between variation in DNA sequences and complex human traits, including the disorders that dominate human illness and death. The findings of the Human Genome Project were predicted to transform medical care (by the year 2010), evoke behavior change in genetically at-risk individuals, generate new drugs, and improve the effectiveness of old drugs by matching them to patients’ genes — thoughts later captured in the precision medicine mantra... see more