Geisinger recognized with best practice award in genome analysis
DANVILLE – Geisinger Health System’s Genomics Medicine Institute earned grand prize recognition by Bio-IT World in its ninth Best Practices Awards.
Geisinger was recognized in the category of informatics for integrated genome-phenome analysis for its work in an international contest led by Boston Children’s Hospital. With a goal of establishing “best practices” for interpreting genomic data, the project involved 23 teams of professionals from around the world competing to interpret the DNA sequences of three children with rare conditions whose causes were a mystery.
“The beauty of whole-genome sequencing is that it provides results for virtually all of our genes at once, whereas traditional genetic tests examine our genes one by one,” said Marc Williams, M.D., Director of Geisinger’s Genomic Medicine Institute. “Whole genome testing allows us to avoid previous methods, which are time-consuming, expensive and don’t give an answer more than half of the time.”
Geisinger partnered with SimulConsult, a diagnostic software provider, to analyze the genomes of three family trios. Geisinger investigators correctly predicted 100 percent of the relevant genes in all three families and reduced the time required to do clinical interpretation for symptomatic patients by up to 90 percent.
As a result of the contest, genes were identified in two children as being responsible for their disorders, and identification of those genes resulted in new information for follow-up care. The third child did not receive a firm diagnosis, although the process identified several potential candidates that could be explored.
“We are extremely proud that our team was able to contribute toward establishing much-needed ‘best practices’ in genome analysis,” Dr. Williams said, “and that in the end, we were able to have a positive impact for real families.”
Awards finalists and winners were selected for their innovative use of bio-IT, including life science equipment, informatics and information technology on a project or organizational level to achieve significantly improved results. An expert panel of eight judges rated entries on several criteria, including innovation, importance, return on investment and likely industry impact, seeking stories that spotlighted the practical and positive deployment of novel technologies in academic, medical or commercial organizations.
The Bio-IT World’s Best Practices Awards program was established in 2003 by the editors of Bio-IT World to recognize organizations for their outstanding innovations and excellence in the use of technologies and novel business strategies that will advance biomedical and translational research, drug development, and/or clinical trials.