The road to understanding human illness may be mapped using the most basic parts of our existence.
Geisinger Health System is collaborating with New York-based Regeneron Pharmaceuticals Inc. to map 100,000 human genome samples during a five-year study.
Researchers hope to find common genetic threads that ultimately will help physicians identify, prevent and treat serious illnesses such as cancer, diabetes and Alzheimer’s.
Geisinger researchers will collect the samples, remove all traces of identity and ship the anonymous samples to Regeneron Genetics Center in Tarrytown, N.Y., for mapping procedures called sequencing.
All research is to be carried out by Regeneron. Any cost accrued by Geisinger in collecting samples will be passed along to the pharmaceutical company.
Before the two joined forces, Geisinger had recruited 45,000 participants to bank DNA samples using the hospital system’s MyCode genetic data-collection program, Geisinger Health System President and CEO Dr. Glenn D. Steele Jr. said Monday.
The old participants will be contacted again and asked for permission to share their genetic information with Regeneron scientists, Steele said. The remaining participants are to be selected from candidates in the Geisinger’s coverage area.
“In the end, Geisinger’s main interest is being able to continue to provide better care for its patients,” Steele said, “(and) identify new treatments that provide better outcomes for its patients and for patients around the world. We’re excited about the new partnership and more importantly about the outcomes that (will result from it).”
Geisinger Health System runs clinics and hospitals in 44 Pennsylvania counties — including Geisinger Wyoming Valley and Geisinger Community Medical Center in Scranton — and the 448,000-customer Geisinger Health Plan insurance.
The first human genome was mapped 10 years ago.
Even now, the process is expensive, cumbersome and doesn’t translate well in a clinical setting, said Regeneron CEO Dr. Leonard Schleifer.
Regeneron has developed proprietary software called VelociGene to skim through genome samples hunting gene mutations or deletions that may indicate susceptibility to illness.
So what happens if they find something of import? Anonymous samples could make it difficult to inform participants they may be susceptible to certain diseases.
Dr. David Ledbetter, Geisinger’s executive vice president and chief scientific officer, said the researchers have already identified some vulnerabilities that can be found in the human genetic map.
“There’s sufficient data today that could be valuable and we have an obligation to convey that back to our patients,” Ledbetter said.
Should Regeneron researchers find the invaluable information, Ledbetter said they have discussed how to bring that knowledge back to the participant through Geisinger teams. He said the participating population is broken up into focus groups based on their wishes, and some opted out of being privy to that kind of information.
Still, the study’s purpose is research, Schleifer said.
A single human gene contains millions of identifying characteristics.
Researchers have found that separating one portion of the gene called the exome can reduce sequencing time and provide clearer insight into where problems might pop up, said Dr. George Yancopoulos, Regeneron’s executive vice president and chief scientific officer.
“We can certainly tailor the types of genome sequencing,” Yancopoulos said. We’re going to be doing a lot more exome sequencing. That’s where we believe there is a higher concentration of problems.”
The researchers’ plan of attack likely is to change as new information leads to new questions.
“Any type of sequencing we do is all in relation to the questions that we ask. We’re going to be working together to come up with the right solution,” Yancopoulos said.
Cost borne by Regeneron
Even with the most current technology, it still costs about $1,000 to sequence a human genome.
Schleifer would not detail the budget, but it can be estimated that about $100 million will be spent by the pharmaceutical company during the five years.
“There’s no profit in it,” Schleifer said. “The stuff that’s really invaluable is the intellectual contributions that I think we’re going to get from both sides from this.”
As the technology improves, the cost to sequence the human genome will follow suit, Schleifer said he hopes.