Clinical Utilization of Genomics Data
“In five or ten years, you will show up at your doctor’s office, not feeling well, with a thumb drive that contains all your important health-related information, including a copy of your entire genome. Your physician will run the disk through a sophisticated computer and, after studying the results, prescribe a treatment, maybe even a form of genetic engineering or gene therapy, based on the genomic components of your disease, not just your symptoms.”
This scenario, posed in Genetic Engineering & Biotechnology News, may have some truth to it. According to David Smith, Ph.D., professor of laboratory medicine and pathology at the Mayo Clinic, “Now having your genome on a disk in five years will very likely be a reality but being able to fully interpret your genome’s data and make a clinically important decision remains more in the realm of fiction.”
Dr. Smith believes that in five years about 90% of the upper-tier hospitals in the U.S. will be doing genomic and transcriptomic sequencing of the type of cancer with which a patient presents. “The medical team will compare the genetic fingerprint of the patient’s cancer with that of his or her normal cells. That comparison will become part of the clinical diagnosis,” he says. However, deciding on the best therapy based on the genomic data will probably have to wait for another ten years or so.
In the article, Dr. Smith also discusses the need for standardization of the data. He says, “For example, if I do an RNA-Seq in Minnesota on an Illumina platform and then do another in California on an Ion Torrent instrument, against what do I standardize the results. I think we should start taking a DNA sample and send it out to ten different groups for DNA and RNA analysis. Then we will be able to see what kind of variability exists and then be in a better position to establish some type of standards for the data.”