Investigators from St. Jude Children's Research Hospital will present new findings at the American Society of Human Genetics annual meeting this week, including study results focused on the benefit of utilizing whole genome, exome and transcriptome sequencing for pediatric cancer patients.
Comprehensive genomic profiling
Scott Newman, Ph.D., group lead for bioinformatics analysis in the St. Jude Department of Computational Biology, will present data from the Genomes for Kids study to determine the feasibility and utility of combining whole genome, exome and transcriptome sequencing for pediatric cancer patients. For more than 250 patients, investigators sequenced tumor tissue and matched normal tissue and discovered that 79 percent of patients had at least one somatic finding that could be used to guide clinical care.
The researchers also showed that this comprehensive testing would not overburden the analysis process, and data could be analyzed and reported within 40 days of testing. The information from the Genomes for Kids study is available on a publicly accessible database, http://www.stjude.cloud, encouraging further analysis of the data as well as worldwide collaboration.
When: Wednesday, Oct. 17 at 5:30 p.m. PST
Location: Ballroom 20BC, Upper Level
Title: Sequencing of whole genome, exome and transcriptome for pediatric precision oncology: Somatic variants and actionable findings from 253 patients enrolled in the Genomes for Kids study
Genetic predisposition
Chimene Kesserwan, M.D., assistant member in the St. Jude Department of Oncology, Division of Cancer Predisposition, will present findings on germline variants in pediatric cancer patients. By evaluating tumor and germline sequencing data, she and colleagues revealed possible causality for nearly 40 percent of the pathogenic germline variants affecting genes not normally linked to the tumor type examined.
This research highlights the importance of integrating tumor data to elucidate the role of germline variants in tumor formation and to define the spectrum of cancers associated with specific hereditary cancer predisposition syndromes. Patients involved in the study were enrolled on the Genomes for Kids sequencing study at St. Jude, which involved prospectively testing patients' tumors and non-cancer tissue with whole genome sequencing, whole exome sequencing and RNA sequencing.
When: Wednesday, Oct. 17 at 4:30 p.m. PST
Location: Ballroom 20BC, Upper Level
Title: Assessing causality of pathogenic and likely pathogenic germline variants by integrating somatic and germline sequencing in children with cancer enrolled on the "Genomes for Kids" (G4K) sequencing study at St. Jude Children's Research Hospital
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St. Jude Children's Research Hospital
St. Jude Children's Research Hospital is leading the way the world understands, treats and cures childhood cancer and other life-threatening diseases. It is the only National Cancer Institute-designated Comprehensive Cancer Center devoted solely to children. Treatments developed at St. Jude have helped push the overall childhood cancer survival rate from 20 percent to 80 percent since the hospital opened more than 50 years ago. St. Jude freely shares the breakthroughs it makes, and every child saved at St. Jude means doctors and scientists worldwide can use that knowledge to save thousands more children. Families never receive a bill from St. Jude for treatment, travel, housing and food -- because all a family should worry about is helping their child live. To learn more, visit stjude.org or follow St. Jude on social media at @stjuderesearch.