Children's Hospital Boston today announced the launch of the CLARITY Challenge, a $25,000 competition intended to advance standards for genomic analysis and interpretation and the reporting of clear, actionable results to clinicians and patients. The competition marks the first time a healthcare institution has sent out a broad call for the development of consistent and clear ways of applying genomic insights to everyday pediatric and adult patient care.
CLARITY (Children's Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information) competitors will be tasked with discovering the unknown genetic basis of the disorders faced by three pediatric patients and, in the process, create best practices for interpreting and presenting genomic sequence results to patients and their families and physicians in meaningful ways that can help guide healthcare decisions.
This is a goal of critical importance, for while the cost of sequencing a person's genome is approaching a low of $1,000, doctors remain largely uncertain about what genomic information means for their patients.
"With the swift decline in the cost of sequencing, the time is rapidly approaching when genomic information will leap from the research bench to the doctor's office and become a part of everyday care," said Isaac Kohane, MD, PhD, director of Children's Hospital Boston's Informatics Program and one of the Challenge's three organizers. "But paramount among the obstacles to true genomic medicine are interpretation and communication. How do we deliver the information encoded in the genome in an understandable way to physicians or patients to help guide better healthcare? Right now, there are no broadly accepted standards for doing so."
Challenge participants will be provided with de-identified clinical summaries and genome sequences - generated by CLARITY Challenge sponsors Complete Genomics and Life Technologies Corporation - for three children and their families seen at the Manton Center for Orphan Disease Research at Children's Hospital Boston. Each child has a disorder that, based on clinical manifestations and family histories, has an as-yet undiscovered genetic basis.
Armed with this information, the competitors will develop analyses, interpretations, and reports that putatively identify the genomic features responsible each child's disorder and provide the meaning and context that would allow physicians and families to understand the results and take consequent action.
The winning competitor, as chosen by a panel of judges based on pre-selected criteria, will receive a $25,000 prize underwritten by Children's Hospital Boston. The winning team will be announced in October 2012.
"Genomics holds so much promise in terms of improving the practice and the quality of healthcare," according to David Margulies, MD, the second CLARITY Challenge organizer and executive director of The Gene Partnership at Children's. "By marshaling the creativity of teams from around the world, CLARITY will likely advance the art of genomic interpretation and the use of genomic information to guide patient care."
While the CLARITY Challenge organizers anticipate that the competition's outcomes will be broadly applicable in accelerating genomic medicine, they could be a particular boon for patients with rare or orphan diseases.
"Unraveling the mysteries behind rare diseases is intimately tied to our understanding of the genetic factors responsible for these conditions," noted third Challenge organizer and Manton Center director Alan Beggs, PhD. "We believe using genomic information to advance care for patients with rare diseases on a large scale is an attainable goal, which the CLARITY Challenge will bring us closer to achieving.
"Expanding our understanding of rare diseases," he added, "will result in broad benefits for human health."