Clinical Genomics

About the Study

Eligible cancer patients treated at St. Jude Children's Research Hospital are offered three-platform next-generation sequencing testing. This testing generally includes whole-genome sequencing (WGS) and whole-exome sequencing (WES) of tumor and normal tissue, as well as RNA sequencing (RNA-Seq) of their tumor. Many of those patients consent to research data sharing so that their information can be leveraged to find cures for future patients. The Clinical Genomics dataset is comprised of data from these samples and is broken down into three distinct project phases.

• The Clinical Pilot project was a retrospective study that evaluated the accuracy and demonstrated the feasibility of three-platform sequencing in a CAP/CLIA setting. The findings of this project were published in Nature Communications.
• The Genomes 4 Kids (G4K) followed the Clinical Pilot. The goal of this prospective study was to determine whether the three-platform sequencing protocol laid out in the Clinical Pilot project could generate results on a clinical timeline in practice and to evaluate the prevalence of actionable findings. The study concluded with just over 300 patients, and the findings were published in Cancer Discovery.
• After the completion of G4K, clinical genomics became a standard service. Real-time Clinical Genomics (RTCG) is a first of its kind initiative, whereby St. Jude began releasing data from the clinical NGS service consented for research use to St. Jude Cloud in monthly batches to give researchers access to valuable data as quickly as possible. Subsequent publications are expected in the future.