CLARITY Challenge

We're pleased to announce the results of Boston Children’s Hospital’s 2012 CLARITY Challenge. The thoughtful submissions from 23 research teams, representing 10 countries, will inform the creation of much-needed “best practices” in genome analysis, interpretation and reporting—providing the most meaningful results to patients and their families.

WINNER ($15,000 prize)

  • Brigham and Women’s Hospital, Division of Genetics (Boston, Mass.), Massachusetts General Hospital (Boston, Mass.), Partners Laboratory for Molecular Medicine (Boston, Mass.), Brown University (Providence, RI), and Utrecht University (The Netherlands)

FINALISTS ($5,000 each)

  • Genomatix (Munich, Germany), CeGaT (Tübingen, Germany), Institute of Pathology, University Hospital of Bonn (Bonn, Germany)
  • University of Iowa (Iowa City, Iowa)


  • Clinical Institute of Medical Genetics (Ljubljana, Slovenia)
  • Science for Life Laboratory (SciLifeLab), Karolinska Institute (Solna, Sweden)
  • Scripps Genomic Medicine, Scripps Translational Science Institute (San Diego, Calif.)
  • SimulConsult / Geisinger (Chestnut Hill, Mass. / Danville, Pa.)
  • The Research Institute at Nationwide Children’s Hospital (Columbus, Ohio)

About the CLARITY Challenge


The CLARITY Challenge (Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) is a contest initiated by Boston Children’s Hospital. Its goal is to identify best methods and practices for the analysis, interpretation and reporting of individuals’ DNA sequence data, to provide the most meaningful results to clinicians, patients and families.

As genomic sequencing gets faster and cheaper, the time is approaching when it will become a part of everyday medicine. But the field has not advanced as quickly in understanding how to apply the insights from genomic sequencing to everyday patient care. CLARITY was designed to answer such questions as:

  • What are the best methods to process the massive amounts of data?
  • Should the results change how a patient’s care is managed?
  • How do we present the information so it’s understandable and useful?
  • When should we report unexpected, incidental findings?
  • How can we safeguard patient privacy?


CLARITY’s Design


In 2011, the Manton Center for Orphan Disease Research at Boston Children’s Hospital selected three children with genetic disorders of unknown causes as test cases. Two of the children have muscle-weakening disorders, known as centronuclear myopathy and nemaline myopathy, and the third child (deceased) had unexplained heart defects that also affect several members of his family. 

In January 2012, academic and commercial researchers from around the world were invited to apply to compete in the Challenge. In April 2012, 30 applicants were selected and agreed to compete and were provided with anonymized medical information and whole-genome and whole-exome sequences, generated by contest sponsors Life Technologies Corporation and Complete Genomics, from the three children and their parents. In all, 23 contestants sent in entries, due September 30, 2012.

The submissions were reviewed by a panel of judges, who were given prespecified criteria to evaluate:

  • The methods used to analyze and interpret the genome sequences from the children and their parents
  • The competitors’ ability to synthesize the genomic data and produce clinically meaningful reports with actionable results for the participants’ physicians

Boston Children’s Hospital offered prizes totaling $25,000 to the winning research team or teams.


CLARITY's History


CLARITY grew out of Boston Children’s Hospital’s long-time commitment to improving the care of patients with complex genetic diseases. The Challenge was initially conceived at a Clinical Bioinformatics Summit held in 2010 in Boston, hosted by Harvard University, the Children’s Hospital Informatics Program, Harvard Medical School Center for Biomedical Informatics, Partners HealthCare Center for Personalized Genetic Medicine, and Harvard Medical School Center for Computational Genetics.

The Challenge protocol was approved by the Institutional Review Board (IRB) at Boston Children’s Hospital, allowing competitors access to de-identified genetic and medical information from the three participating families.


Why Boston Children's?


Boston Children’s Hospital is uniquely qualified to drive advancements in genomic research and, ultimately, deliver to patients the promise of genomic medicine. We are the largest pediatric research institution in the country—with more than 500,000 patient encounters a year—and our diverse population of patients encompasses medical conditions and disease types ranging from the most common to the rarest.

Boston Children’s also has an unrivaled foundation of genomics and genetics research. Our vast work in genetic and genomic medicine is accelerating the translation of research discoveries into clinical application.

The CLARITY Challenge, along with the Gene Partnership, is an extension of Boston Children’s long-time and long-term commitment to improving the care of patients with complex genetic diseases. While we want to enjoy healthy competition, the ultimate purpose of the Challenge is to help motivate and move our entire industry forward—together—and accelerate the future of genome-guided medicine.