A team from Nationwide Children’s Hospital has been honored as the winner of the 2015 international CLARITY Undiagnosed Challenge. The announcement was made on November 10, 2015 at the Global Pediatric Innovation Summit in Boston, Massachusetts.
The CLARITY Challenge involved 26 leading genomics teams from seven countries who sought to interpret DNA sequences and provide information to five different families about their conditions that had eluded diagnosis despite multiple doctor visits, tests and genetic studies. Competitors included Stanford University, University of Southern California, Emory University and several international biotechnology institutes.
The Nationwide Children’s team – the only team from a pediatric hospital – was unanimously chosen by an independent panel of judges that included medical geneticists, computer scientists, bioinformaticians and clinical experts. Judges lauded Nationwide Children’s team for its accuracy and comprehensive approach, which produced the most reliable and clinically useful results of all the competition entrants.
“Taking on this challenge, and then winning it, is a wonderful testament to our team and the innovation in progress at Nationwide Children’s Hospital,” said Steve Allen, MD, CEO, Nationwide Children’s Hospital. “Genomic medicine is a quickly evolving frontier for health care. Nationwide Children’s is setting the standard for how genome sequencing and analysis can be utilized to transform care for patients and families around the world.”
Two components were essential to the Nationwide Children’s approach to the challenge: a comprehensive team of experts and a technology developed at the hospital to make genome analysis practical and accurate for clinical use.
“Our diverse team included genomic researchers, bioinformaticians, big data informatics experts, genetic counselors, medical geneticists and clinicians,” explained team leader Peter White, PhD, director of Molecular Bioinformatics and the Biomedical Genomics Core in The Research Institute at Nationwide Children’s. “Bringing these experts together was invaluable for accomplishing our goals, and more importantly for providing some answers to the families involved.”
In addition to the team of scientists and clinicians, another key factor was a novel computational technology developed by Dr. White and his team. The technology, affectionately named “Churchill,” allows efficient analysis of a person’s genome for disease-causing gene variations in less than 90 minutes with reproducible results, which makes it a highly practical option for clinical use.
“Sequencing technologies have revolutionized genetic research and have accelerated the discovery of new gene mutations responsible for many diseases,” notes Dr. White. “However, the field lacks a single standardized approach for analysis and interpretation of that sequencing data.”
The data produced through gene sequencing remains an intensive challenge to analyze and interpret. Scientists are typically left with billions of data points to examine before any practical information can be used in research and clinical settings. Current approaches can take months and cost thousands of dollars to complete analysis and interpretation, making them impractical for clinicians to use in making diagnoses.
“Those challenges are overcome by Churchill’s speed, accuracy and lower costs, making it a transformative tool to help diagnose patients with complex diseases, and setting a new standard for genome analysis,” says Dr. White.
The development of the Churchill technology was supported in part by the Nationwide Foundation Pediatric Innovation Fund, which also provided funding to Nationwide Children’s for the most advanced next-generation gene sequencing equipment available.
“We are especially grateful to the Nationwide Foundation and their foresight in supporting our genomics program through the Pediatric Innovation fund,” adds Dr. Allen. “They understood early on that genomic medicine can be the game-changer toward solving complex illnesses. We’re very proud of their support for our genomic medicine initiatives.”
Churchill was recently licensed to GenomeNext LLC, a leader in genomic data management and integrated analysis. Through a commercial partnership, Nationwide Children’s will integrate GenomeNext’s genome sequencing analysis platform for both clinical laboratory services and clinical research initiatives.For academic research purposes, Churchill is available at no cost. To date, more than 400 academic research centers are using the software.
CLARITY Undiagnosed Challenge Registrants:
1. Bina Technologies (Redwood City, CA)
2. Centre for Genomic Regulation (CRG) (Barcelona, Spain)
3. Clinical Institute of Medical Genetics (Ljubljana, Slovenia)
4. Codified Genomics, LLC (Houston, TX)
5. Emory University School of Medicine (Atlanta, GA)
6. Enlis Genomics (Berkeley, CA)
7. Geisinger Health System (Danville, PA) and SimulConsult (Chestnut Hill, MA)
8. Gene.us (Austin, TX)
9. Genomatix Software GmbH (Munich, Germany)
10. Institute for Systems Biology (ISB) (Seattle, WA) and Inova Translational Medicine Institute (ITMI) (Falls Church, VA)
11. intelliseq (Krakow, Poland)
12. Invitae Corporation (San Francisco, CA)
13. Mendelics (Sao Paulo, Brazil)
14. Miti Medicine Inc. (Cambridge, MA)
15. Nationwide Children's Hospital (Columbus, OH)
16. QIAGEN (Redwood, CA)
17. Rare Genomics Institute (Hanover, MD)
18. Seven Bridges Genomics (Cambridge, Massachusetts)
19. SNPedia (Potomac, MD)
20. SolveBio (New York, NY)
21. Stanford University (Stanford, CA)
22. University of Southern California (Los Angeles, CA)
23. University of Utah (Salt Lake City, UT)
24. Tel Aviv University (Tel Aviv, Israel), and Variantyx Ltd (Ashland, MA)
25. Tute Genomics (Provo, Utah)
26. WuXi NextCODE Genomics (Cambridge, MA)