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Geisinger recognized in international contest to interpret three families' genomes

CONTACT: Amanda O’Rourke: 570-214-9091
Jan. 10, 2013

DANVILLE, Pa. – Geisinger Health System’s Genomic Medicine Institute received an honorable mention in an international contest led by Boston Children’s Hospital in which 30 teams of professionals from around the world competed to interpret the DNA sequences of three children with rare conditions whose causes were a mystery. The goal of the competition was to compile enough information to establish “best practices” for interpreting genomic data.

Results of the challenge were announced at the American Society of Human Genetics annual meeting in San Francisco, Calif. Geisinger, which partnered with SimulConsult, a diagnostic software provider in Chestnut Hill, Mass., was one of only eight teams recognized from the original entrants. Among the other organizations recognized were Brigham and Women’s Hospital, Boston, Mass.; Brown University, Providence, RI;  Scripps Genomic Medicine, San Diego, Calif.; as well as organizations from The Netherlands, Germany, Slovenia and Sweden.

Participants in the competition, known as the Children’s Leadership Award for the Reliable Interpretation and Transmission of Your genomic information (CLARITY) challenge, ranged from small biotech startups to the National Institutes of Health, representing the United States, Canada, China, India, Israel, Italy, Germany, the Netherlands, Singapore, Slovenia, Spain, Switzerland and Sweden.

“Traditional genetic tests examine our genes one by one, which is time-consuming and expensive, and requires doctors to have a good idea ahead of time which of our roughly 20,000 genes is the likely cause,” said Marc S. Williams, M.D., Director of Geisinger’s Genomic Medicine Institute. “The beauty of whole-genome sequencing is that it provides results for virtually all of our genes at once, and the exciting part of this contest was that in the end, we helped real families.”

All contestants were given raw DNA sequence data and de-identified clinical data from three children and their immediate relatives identified by The Manton Center for Orphan Disease Research at Boston Children’s Hospital. Of the three children, two have a neuromuscular disorder and the third a cardiovascular disorder.

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 several promising candidate genes were identified that will be investigated further by the child’s medical team.

The goals of the CLARITY challenge were to address technical and bioinformatics questions in analyzing DNA sequence results, bring standardization to the analysis of genetic variants and generate a comprehensive, actionable report that can guide decision-making by doctors, genetic counselors and patients. The Geisinger-Simulconsult team was cited for its innovation in combining clinical features with the DNA sequence results using a sophisticated computerized approach.

“The last major barrier to widespread clinical use of DNA sequencing is the creation of accurate, understandable interpretations of sequence findings for doctors and patients,” said David H. Ledbetter, Ph.D., Executive Vice President and Chief Scientific Officer at Geisinger Health System. “The thoughtful submissions to this contest will inform the creation of much-needed ‘best practices’ in genome analysis and, most importantly, bring meaningful results to patients and their families. Geisinger is extremely well-positioned to be a national and international leader in bringing genome sequencing to improved patient care.”

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