Within seconds of the baby’s birth, a single drop of blood reveals his odds: neurological disease, 60 percent risk; bipolar disorder, 42 percent risk; heart defect, 99 percent risk. He’s a de-gene-rate, conceived the old-fashioned way—left to genetic chance. His parents plan their next child more wisely, coached by a geneticist who engineers fertilized eggs free of propensity for disease, blemishes, and even moral turpitude.
In the science fiction movie GATTACA, titled from the alphabetic quartet of nucleotides that form DNA’s double helix, that flawed baby grows up to prove that probability is not certainty and that our genetic makeup does not define us after all. The movie was released in 1997, midway through the Human Genome Project, at a time of heightened hope and hype about our prospects for tackling disease once we had cracked the genetic code.
A decade has now passed since a working draft of the human genome was announced. While the movie’s dystopia has not emerged, neither has the glittering promise of easy answers to the problems of disease. Rather than a revolution in medicine, our growing understanding of genetics has led to an evolution in personalized medicine, the goal of which is to deliver the right therapies to the right people in order to maximize success, minimize side effects, and guide individualized care.
Successes in personalized medicine, particularly within oncology, continue to accrue—many, I am proud to say, at Harvard Medical School and its affiliated institutions. Today we have the opportunity to move away from treatment approaches based on organs and symptoms toward ones that incorporate preventive strategies and a deeper understanding of disease mechanisms. The more we learn, the more we realize that we have barely scratched the surface of what personalized medicine may eventually offer.
We also have an opportunity to cut spending. With the dramatic drop in the cost of sequencing a human genome—from $3 billion to just thousands of dollars in ten years—we can imagine a time when everyone’s genome will be sequenced as a routine part of medical care in this country. Consider the cost of not taking advantage of tailored treatments: In 2008, according to McKinsey & Company, we spent nearly $300 billion on pharmaceuticals—yet many drugs are fully effective in only 50 to 60 percent of those who take them. And adverse reactions drive as much as $135 billion in needless costs each year.
As our ability to interpret genomic data improves, we hope to reduce health care costs, to avoid trial-and-error prescribing, to prevent adverse drug reactions—and to shift our emphasis from treating symptoms to preventing disease. I hope this issue of Harvard Medicine shines some light on the challenges inherent in our efforts to personalize medicine and provides insight into advances that may one day transform lives.