Advancements in genomic science continue to push toward a future where people can map their DNA and identify the likelihood that they or their children will be susceptible to certain diseases.
Gaithersburg-based OpGen took another step in that direction last week. The company debuted a technology that puts separate gene sequences in the correct order so that abnormalities in the structure of one’s genetic makeup can be better detected.
“There are certain diseases like autism and schizophrenia where there are known structural variations that are taking place,” said chief executive Doug White. “Now we have a technology and application so you can ... more easily see the rearrangements within particular chromosomes [that] are causing a particular disease.”
Genomics has been considered a well of opportunity for the scientific community since the human genome was first mapped in the early 2000s. But breakthroughs in health care and medicine have come slower than some anticipated.
There has been progress. Mapping human genes now cost several thousand dollars, considerably less than when the technology first became available.
“I think there has been a great deal of focus ... to generate whole genome sequence information at a reasonable cost,” said Claire Fraser-Liggett, director of the Institute for Genome Sciences at the University of Maryland’s School of Medicine. “I think we’re on the cusp of being able to do that. We’re not quite there yet.”
OpGen has found success mapping the genome of less complex organisms. For example, the company provided genome maps of the E. coli outbreak in Germany last summer and determined it came from a single source, later identified to be bean sprouts.
White said that mapping an organism as complex as a human requires that DNA be broken down into segments. The new technology helps knit those segments together in the proper order so researchers can determine whether it varies from the norm.
“When you start to think about assembling and analyzing hundreds of thousands of human genome sequences, I think [scientists] would agree that’s where the bottleneck is,” Fraser-Liggett said.
And while OpGen’s technology marks progress toward a solution, Fraser-Liggett said a real fix may still be a distant goal.