WASHINGTON — A whirlwind of activity is underway to apply the findings of the $3 billion Human Genome Project to improve health care in the United States and around the world.
Six years after scientists finished decoding the human genome — the genetic instruction book for life — they’re starting to take their knowledge from the research laboratory to the doctor’s office and the patient’s bedside.
“We hope all this knowledge of the genome will lead to more kinds of therapies,” said Francis Collins, who ran the federal government’s Human Genome Project from 1993 to 2008.
Researchers are seeking ways to tailor treatments to individuals — they call it “personalized medicine” — to improve patient outcomes and to lower costs in the overburdened U.S. health care system.
The goal is to deliver the right drug at the right time in the right dose to the right person, and eliminate treatments that don’t work.
“Already some of these personalized treatments are finding their way into practice,” Collins said at a recent seminar in Washington. “We want to optimize the way we practice medicine, diagnosis and risk prediction.”
For example, instead of a standard therapy to treat breast cancer, personalized medicine allows doctors to employ a treatment precisely designed to fit one woman’s specific needs. If a gene test shows that her tumor overproduces a substance called HER-2, she is considered to be a good candidate for the drug Herceptin, which cuts her chance of a recurrence nearly in half. If the test is negative, using the drug could be wasteful.
Advocates say that personalized medicine also can reduce unnecessary suffering and expense by minimizing the chance of adverse drug reactions.
According to the Food and Drug Administration, there were 319,741 serious illnesses and 49,958 deaths due to unexpected reactions to drugs last year in the United States. A British study estimated the cost of such reactions at $847 million a year in the United Kingdom.
Experts caution, however, that it is premature to say that an era of individually customized medicine has arrived. Major scientific and policy hurdles remain before patients can benefit widely from the promises of personalized medicine. Issues of insurance coverage, medical training, privacy and safety remain to be resolved.
“It is not ready for moving into the clinic. It is not ready for prime time,” Pamela Sankar, a medical ethicist at the University of Pennsylvania, told the seminar.
Nevertheless, advances in genomic medicine are accelerating, thanks to new, high-speed sequencing machines. Unlike the slow, painstaking methods used to decode the first sample genome, second-generation robotic machines can analyze hundreds of thousands of units of DNA in minutes.
Collins said the improvement in speed of sequencing had been “breathtaking.”
