Undiagnosed families hold on as genome competitors look for explanations

undiagnosed patients await answersThe CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.

In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:

  • the methods used to analyze and interpret the sequence data
  • the ability to synthesize the information
  • clinical usefulness, care recommendations and “next steps.”

Results will be announced at Boston Children’s Hospital’s Global Pediatric Summit + Awards (Boston Seaport Hotel, Nov. 9-10, #PedInno15), by Alan Beggs, PhD, director of the hospital’s Manton Center for Orphan Disease Research and co-organizer of CLARITY Undiagnosed, and Catherine Brownstein, MPH, PhD, director of the hospital’s Molecular Genomics Core Facility.

Can this $25,000 Challenge finally bring clarity to DNA diagnostics? Unlike the first CLARITY Challenge in 2012, which involved three patients with rare disease, this year’s challenge is emphasizing the quality of the reporting over technical bioinformatics expertise.

“In 2012, many of the computational methods for analyzing vast amounts of genetic sequences were just being worked out,” says Beggs. “Today, those methods are well established. Instead, the hurdles are medical genetic interpretation to determine which of the thousands of genetic variants may be disease-causing, as well as how to accurately, concisely and clearly present this complex information to patients and caregivers.”

sequence analysis bioinformatics

The five families were identified through a forthcoming independent documentary called Undiagnosed, which will chronicle the CLARITY teams’ efforts as part of its story line. All patients and families will remain anonymous for the duration of the Challenge.

As for the teams, they comprise a wide variety of commercial and academic groups, which indicating how young the field still is. “The market has yet to decide where best to find robust clinical genomics expertise,” says CLARITY Undiagnosed co-organizer Isaac Kohane, MD, PhD, chair of the Department of Biomedical Informatics at Harvard Medical School.

The teams in alphabetical order:

  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. 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, UT)
  26. WuXi NextCODE Genomics (Cambridge, MA)

Register now for Boston Children’s Hospital’s Global Pediatric Summit + Awards.