Six seriously ill people whose cases have stumped physicians may have new hope thanks to pioneering genetic research being launched today by Scripps Health.
The study, called Idiopathic Disease of Man, or IDIOM, will sequence the patients’ genes in an effort to diagnose their illnesses and figure out how to treat them.
The study will be among the first to focus on adults, after a landmark case two years ago in Wisconsin, where scientists stunned the medical community by curing a dying 4-year-old boy after using genetic sequencing to diagnose his mysterious ailment.
“There are hundreds of thousands of Americans walking around today with undiagnosed illnesses, going from one doctor to another and continuing to deteriorate,” said Dr. Eric Topol, the study’s principal investigator. “This is really an exciting chance to be able to unravel life-threatening illnesses and provide important answers.”
The six patients are expected to be chosen this afternoon by a panel of 10 Scripps physicians, a psychologist, a medical ethicist, a research nurse and others, said Topol, chief academic officer of Scripps Health and director of the Scripps Translational Science Institute in La Jolla.
The study is part of a new frontier in medicine, in which researchers collect information on all 3.2 billion pairs of data points in the human genome — the individual’s complete set of genetic material — and look for mutations that could cause illness.
Topol said he was inspired by little Nic Volker, the Wisconsin boy diagnosed and successfully treated through genetic sequencing by doctors at the Medical College of Wisconsin and Children’s Hospital of Wisconsin in 2009.
“We said, why don’t we do this at Scripps with adults?” Topol said.
The six patients will be chosen from nine cases brought to Topol’s attention by physicians around the country. Most have some type of perplexing neurological or neuromuscular problem, he said. As part of a funding arrangement, two are children from Saint Francis Hospital in Tulsa, Okla.
There is no guarantee a treatment can be found, but cases that “lend themselves to intervention” will be chosen, Topol said. The identities of the patients will not be made public.
The study is being partially funded by the Anne and Henry Zarrow Foundation and the William K. Warren Foundation, both of Tulsa. Details of other financial support is not being released.
The genomic sequencing will be done by Complete Genomics of Mountain View, Calif., one of a handful of companies that does the work. The massive amount of resulting data will analyzed by the Scripps Translational Science Institute.
The cost of genetic sequencing dropped in recent years from the billions it cost when human genome sequencing was first completed in 2003, but it’s still an expensive enterprise and no insurance company currently covers the cost for adults.
Each of the six patients will give blood and the whole genome sequencing will be done and then repeated 40 times to ensure accuracy before the massive amount of data is analyzed, Topol said.
Whole genome sequencing also will be done on parents or other relatives of each patient so scientists can look for differences between patient and parent that could point out the genetic mutation causing the illness.