Skip to main content

CHB Kicks Off $25K Challenge to Set Standards for Clinical Genomic Data Interpretation


Children's Hospital Boston this week launched a competition intended to "advance standards for genomic analysis and interpretation and the reporting of clear, actionable results to clinicians and patients."

With a $25,000 prize at stake, participants in the Children’s Leadership Award for the Reliable Interpretation and appropriate Transmission of Your genomic information, or CLARITY, contest will be given the task of identifying the genetic roots of unnamed disorders in three pediatric patients at CHB's Manton Center for Orphan Disease Research.

The hospital will accept applications from academic and commercial groups until March 1. It will then select a maximum of 20 teams to compete in the challenge.

The groups that are selected to participate in the challenge will be notified in April at which time the contest will officially begin and will last for about four months, CHB said.

Competitors will receive de-identified clinical summaries and genomic and/or exomic sequences — generated by the challenge sponsors Complete Genomics and Life Technologies — for the three children and their families.

Each child has a disorder that, based on clinical manifestations and family histories, suggests a currently unknown genetic basis. Competitors are expected to develop analyses, interpretations, and reports that putatively identify the genomic features responsible for each child’s disorder as well as provide meaning and context that would allow physicians and families to make sense of the results and help guide healthcare decisions.

Specifically, participants 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.

As part of the process, participants are expected to come up with best practices for interpreting and presenting sequence results to patients, their families, and physicians, CHB said.

Contestants are expected to submit their methods, results, and a written clinical report that will be evaluated by a panel of judges. The winning team will be announced in October.

The Scan

Call to Look Again

More than a dozen researchers penned a letter in Science saying a previous investigation into the origin of SARS-CoV-2 did not give theories equal consideration.

Not Always Trusted

In a new poll, slightly more than half of US adults have a great deal or quite a lot of trust in the Centers for Disease Control and Prevention, the Hill reports.

Identified Decades Later

A genetic genealogy approach has identified "Christy Crystal Creek," the New York Times reports.

Science Papers Report on Splicing Enhancer, Point of Care Test for Sexual Transmitted Disease

In Science this week: a novel RNA structural element that acts as a splicing enhancer, and more.