Mapping the human genome was only the beginning. Since then, scientists around the world have probed deeper and deeper into our DNA, looking for genes and mutations linked to specific diseases and specific responses, good and bad, to medical treatments.
They have found a genetic defect that makes two proteins fuse together and cause leukemia – and not one, not two, but 10 genes whose malfunction can lead to diabetes.
And they have found genetic reasons why some people have terrible reactions to abacavir, a particularly powerful HIV/AIDS drug, and why some people need big doses of warfarin, a blood thinner used by millions, while others get bruised and sick with even a little.
There’s no question, speakers at a Brown University conference last Monday on “The Personalized Medicine Revolution” agreed: Genetics is quickly transforming health care.
“I think without being overly bold, I can say the major risk factors for common diseases … are going to be identified in the next two or three years,” said Dr. Francis S. Collins, director of the National Human Genome Research Institute at the National Institutes of Health and the event’s keynote speaker. “Many will happen this year.”
“I don’t think that’s fully settled in,” he added, “in terms of fully understanding just how quickly this has come along.”
The conference, the fourth in a “Frontiers of Health Care” series organized by U.S. Rep. Patrick J. Kennedy, happened to take place days after James Watson, the Nobel Prize-winning scientist who helped discover the molecular structure of DNA in 1953, became the first person in the world to receive his own personal genome map.
On Capitol Hill, meanwhile, a 12-year effort to make it illegal to discriminate against a person based on genetics appears to be coming to fruition. The House, which has previously opposed such legislation, has already approved a bill; the Senate is expected to follow suit, and President Bush said last April that he would sign the measure.
Yet passage of the bill is not guaranteed, and many other questions remain. To help address them, Kennedy brought in a primary care doctor, an ethicist, a patients’ rights advocate, a privacy expert, a reporter, a health plan CEO, a hospital CEO and others to share their views.
But first Collins offered his own perspective.
Genetic research in medicine has been going on for decades, but what’s changed in the last two or three years, he said, is that new technology has dramatically reduced the time and cost involved in identifying specific genetic markers.
And so projects that were once almost intractable, such as studying the human “microbiome” – the interaction of human DNA with the DNA of microbes that live on our bodies – are now feasible. Huge strides are being made in cancer research, promising a future where, instead of the powerful poisons that are now standard treatment, targeted genetic cures are used.
Then there’s preventive care. Watson’s genome cost $1 million to sequence, Collins noted, but within a decade or so, technology could bring the cost down to $1,000, making it possible for most everyone to get a complete DNA map that identifies vulnerabilities at a young age.
“I think for most of us, it is almost inevitable that if we achieve that kind of cost efficiency, and this information has the value we all believe it will, we are going to want to go there,” Collins said. “But are we sure we’ll be ready by the time it comes?”
He offered a hypothetical example. A young woman named Betty at age 25 learns that her uncles died from heart disease. Her doctor recommends genetic testing, and she discovers she’s four times likelier than average to have heart problems.
Based on her genetic profile, the doctor designs a preventive program for Betty that helps her stay healthy into her 70s. When, at age 75, she has arm pain, her doctor knows her vulnerability and recognizes that she’s had a myocardial infarction. She gets tailored medication, “and she lives into the 22nd century.”
If we don’t prepare, however, Collins noted, and Betty is afraid of genetic testing because discrimination is legal and it’s already cost her brother his health insurance, she might miss out on all those benefits. She might never learn she’s at risk, and neither would her doctor. Then, chances are, she’ll get sick much younger, perhaps at 50. And no one will save her.
There’s also another danger, Collins said: That we’ll succumb to “genetic determinism,” and neglect the role of the environment, and “the importance of the human spirit and choice.”
Many of those concerns, especially regarding privacy, dominated a discussion after Collins’ address. Rhode Island already bars genetic discrimination, for example, but speakers said many other states don’t, or do it poorly, and they are not ready to call a victory in Congress.
Dr. Joseph F. Amaral, president and CEO of Rhode Island Hospital, noted that many kinds of discrimination are already illegal, and yet they still occur.
Dr. Daniel J. Wattendorf, director of the Air Force Medical Genetics Center, expressed concern that doctors are so strapped for time that they would have difficulties learning all they need to know about genetic discoveries, much less counseling patients properly.
And given the havoc that Internet fraudsters already have wrought upon health care, several speakers said, just wait until they start peddling mail-order DNA profiles and custom cures.
Edward Abrahams, executive director of the Personalized Medicine Coalition, in Washington, D.C., said that’s why events such as the Frontiers conference are important.
“By looking at these issues, you figure out there’s a better way to do this,” he said. “If you embrace that vision, you can start taking steps toward a better paradigm.”
For Rhode Island in particular, Abrahams said, this field provides an opportunity to excel, especially given Brown’s strength in both medicine and genetics.
“Rhode Island, with its small size, could use that as a strategic advantage,” he said.
