Genetic testing has been shown to be essential for accurate diagnosis and effective for selecting personalized treatments. A wide spectrum of hematologic malignancies and solid tumors are identified in patients of diverse ethnic backgrounds every year. The development of these innovative genetic test offerings will have significant impact on child health, and will ultimately lead to a deeper understanding of the genetics of pediatric cancer.
“The ability to deliver expedited results from genetic tests may be life changing for our patients,” said Jaclyn A. Biegel, Ph.D., director of the CHLA Center for Personalized Medicine. “This new platform will enable us to expand our growing suite of clinical tests and will also enhance our clinical research. With the ability to process terabytes of sequences in days rather than months, we can more effectively mine genomic data from our own patients, as well as cohorts of patients from large consortia such as the International Cancer Genome Consortium (ICGC). Significant strides in our understanding of pediatric cancer genetics will in turn empower our own genetic test offerings.”
DRAGEN utilizes field-programmable gate array (FPGA) technology to rapidly accelerate secondary analysis, analyzing a whole human genome at 30x coverage in approximately 20 minutes while delivering enhanced accuracy. DRAGEN recently set the GUINNESS WORLD RECORDSTM title for Fastest time to analyze 1,000 human genomes. The platform is highly accurate, and received high scores across all accuracy metrics in the recent PrecisionFDA Hidden Treasures – Warm Up Challenge.
“Our partnership with CHLA is based upon a joint commitment to advancing personalized medicine to deliver better patient care,” said Pieter van Rooyen, Ph.D., chief executive officer at Edico Genome. “Extending upon our germline-related activities, we are embarking on a new joint initiative with CHLA to deliver enhanced somatic diagnosis and care offerings to improve cancer diagnosis and treatment.”
CHLA is also reviewing the DRAGEN Somatic pipeline for whole exome sequencing of cancer specimens and RNA Seq pipeline for fusion detection. The Somatic pipeline will allow ultra-rapid analysis of next-generation sequencing data to identify cancer-associated mutations. The DRAGEN Somatic pipeline is able to call single nucleotide polymorphisms (SNPs) and insertions and deletions (INDELs) from both matched tumor/normal pairs and tumor-only samples. DRAGEN produces rapid results while achieving a level of accuracy greater than top somatic variant callers. DRAGEN RNA-Seq pipeline detects fusion genes in an unbiased manner with high sensitivity and specificity, which are critically important for the diagnosis of pediatric hematologic malignancies and solid tumors.
For more information about DRAGEN’s pipelines, visit www.edicogenome.com/pipelines or booth #1802 at AMP 2017.