Medicine is on the threshold of a revolution in patient care. With important insights emerging daily about the genetic basis of disease, and the cost of sequencing an individual’s genome plummeting from more than $3 million to $1,000 or less in the past decade and a half, genomic information is beginning to become a part of everyday care.
This new capability opens possibilities for designing tailored, life-long strategies to maintain people’s health and treat disease based on their genetic makeup and knowledge of environmental factors that may affect their health.
Yet, while the speed of genomic sequencing is rapidly increasing, our understanding of how to apply the new information has not advanced as quickly. How reliable are these data, and how do we deliver the information in an understandable way to physicians or patients to help improve patient care?
The answer lies in creating standardized methods for analyzing, interpreting, reporting and, ultimately, using genomic information in a clinical setting.
This is why Boston Children’s Hospital has launched the CLARITY Challenges.
Each Challenge is led by a multidisciplinary team of specialists at Boston Children’s Hospital and Harvard Medical School with expertise in rare disease, genetics, genomics and bioinformatics, and invites submissions from medical and research centers around the world. Submissions are reviewed by an independent panel of judges.
Our first CLARITY Challenge, launched in January 2012, called on the international community to find a genetic basis for disorders in three families identified by The Manton Center for Orphan Disease Research. Of 40 teams submitting applications, 30 were selected to compete and received genomic sequences for the three affected children and their families and tasked to provide an analysis, interpretation and report suitable for use in a clinical situation.
The Institutional Review Board (IRB) at Boston Children’s Hospital approved the protocol, allowing competitors to access de-identified materials and records from the three families.
In all, 23 teams completed the Challenge. The results, announced November 2012 and published in full in the journal Genome Biology in 2014, solved at least one family’s genetic mystery while demonstrating the variability from center to center in costs, efficiency and scalability of sequencing, as well as the quality of the clinical reporting and patient-consenting process. The Challenge results also underscored the need for medical expertise to bring meaning to the genomic data.
The winning team—led by the Brigham and Women’s Hospital Division of Genetics with members from Massachusetts General Hospital (Boston), Partners Laboratory for Molecular Medicine (Boston), Brown University (Providence, RI) and Utrecht University (Netherlands)—was awarded $15,000. Two finalist teams were awarded $5,000 each: the University of Iowa and a German team comprised of Genomatix (Munich), CeGaT (Tübingen) and the Institute of Pathology at University Hospital of Bonn (Bonn).