February 1, 2023

November 6, 2005
A Doctor for the Future
Dr. D. Holmes Morton stood at the front of the red-and-white-striped tent set up in a farm pasture in Lancaster County, Pa. Behind him were a horse and a buggy – his host’s main mode of transportation – and a whitewashed barn and silo. To his left was a sunken barbecue pit, with 60 chickens cooking inside a homemade wire-mesh spit. Before him were seven families, upward of 50 people. The women wore bonnets and aprons, the men, long pants and long sleeves, in keeping with their Mennonite ways. Many of the youngest were in wheelchairs. One teenage girl had her left heel in her mouth. A boy was chewing on the handout Morton had distributed. It was two pages long and titled “Pretzel Syndrome.”
The families had gathered here at the Weaver farm on this sticky July afternoon so that Morton could tell them what was wrong with their children. He could not give them a scientific name for their disease, because it did not have one yet. Morton and his team had discovered the existence of this illness only a few weeks earlier. Nor could he tell them how to cure it, or how to ease its symptoms, or what the future held for their kids – though he said he hoped that would come in time. All he could tell them then was why – why their children looked different, and had seizures, and could not speak, and died young. Why the youngsters’ joints were so elastic that they could rest their feet behind their heads, their bodies twisted like pretzels. The cause, he could say with brand-new certainty, lay in their genes.
Morton, his gray hair blending with his faded jeans and herringbone jacket, his bow tie untied and draped around his neck, is a glimpse of the medicine of the future. And that future does not look the way we once thought it would. It has been five years since the first rough draft of the human-genome map was completed, five years since President Clinton predicted that “with this profound new knowledge, humankind is on the verge of gaining immense new power to heal.” At the time, scientists told us they would soon be able to tinker with our DNA, repair our imperfect chromosomes and eliminate inherited disease. Gene therapy would be like penicillin, they said – a significant breakthrough, a complete cure.
That has not happened yet, and it is not likely to happen any time soon. “The enthusiasm has dimmed,” says Dr. David Ginsburg, a professor of medical genetics at the University of Michigan. “Many in the field have been accused of overhyping it.”
But while all eyes were fixed in recent years on the gene-therapy prize, a quieter transformation has been taking place. From a single drop of blood, scientists can now read our DNA – looking for which genes are present or missing, intact or broken, making diagnoses of disorders that were once either unheard-of, uncertain or misunderstood. From that they have been able to begin to decipher the consequences for a patient’s life, longevity and health – a process some have taken to calling “genomic medicine.” “This really is the future,” says Edward R.B. McCabe, co-director of the University of California at Los Angeles Center for Society and Genetics. “Genomic medicine will be predictive, preventive and personalized,” meaning that treatment will be shaped by, and tailored to, each patient’s DNA. Perhaps doctors won’t be able to fix genes, he says, but “it won’t be enough to just diagnose” either. The time is past for knowledge for knowledge’s sake, he says. “You have to use that information to help the patient.”
Read the rest at The New York Times

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