Late last month, Children’s Hospital Boston announced the launch of the CLARITY Challenge — Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information — a “competition intended to advance standards for genomic analysis and interpretation and the reporting of clear, actionable results to clinicians and patients.” The winning research team will be announced in October and receive a $25,000 prize.

According to the contest website:

We are 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 over $3 million to $5,000 in only the past decade, 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.

 

This new era opens possibilities for designing tailored, life-long strategies for maintaining health and treating disease that are derived first from knowledge of an individual’s genetic makeup, as well as the environmental factors that may affect each person’s health.

 

Despite the rapid progress in the speed of genome sequencing, we have not advanced as quickly in understanding how we will apply the insights it brings to everyday patient care. How reliable are the data, and how do we deliver the information in an understandable way to physicians or patients to help guide better healthcare?

 

The answer lies in creating standardized methods for analyzing, interpreting, reporting and, ultimately, using genomic information in a clinical setting.

 

This is why we have launched the CLARITY Challenge.

Key hurdles the CLARITY Challenge aims to address are:

• Inconsistent or non-specific sequencing results and non-interoperable processes;
• Conflicting gene variant annotations and classification;
• A hodge-podge of non-standardized databases;
• Lack of standards concerning individual privacy and data access; and
• Resulting reports that are not clear or useful to doctors, genetic counselors and patients.

Children’s Hospital Boston is accepting applications — with multidisciplinary experience spanning bioinformatics, genetics, and medicine — to participate in the challenge through March 1st. No more than 20 teams will be selected.

Selected participants will be notified in April 2012. At that time:

Challengers will be provided with de-identified genomic and/or exomic data and relevant medical history from three families with suspected pediatric genetic disease. Over approximately four months, challengers will be asked to identify the best methods for analyzing the data, identifying disease-causing mutations related to the patients’ phenotypes, and reporting relevant information back to clinicians in a written format. At the completion of the Challenge, all participants will submit their methods, results, and written clinical report for evaluation by the judging panel.

Submissions will be evaluated by a group of leading researchers on the basis of the methods by which the competitors analyze and interpret the genome sequences of the pediatric patients and their parents, as well as the ability of the competitors to synthesize the genomic data and produce clinically meaningful reports with actionable results for the participants’ physicians.

To learn more — and to apply to participate — check out the CLARITY Challenge website.

(Contributed by Erwin Gianchandani, CCC Director)