Comprehensive genetic testing of tumors and non-cancerous tissue from pediatric cancer patients is a feasible and clinically useful approach that can guide patient care, according to findings presented on October 17 at the American Society of Human Genetics (ASHG) 2018 Annual Meeting in San Diego, California (October 16-20). The ASHG reports a record attendance of 8,500 for this year's meeting. Presenting author Scott Newman, PhD; Jinghui Zhang, PhD; and Kim Nichols (photo), MD, along with an interdisciplinary team at St. Jude Children’s Research Hospital, studied 253 pediatric oncology patients with a variety of cancers. In 79 percent of cases, there was at least one finding that could help guide care by providing a diagnosis, revealing patient-specific risks, or identifying drug targets. The researchers conducted whole genome sequencing (WGS), whole exome sequencing (WES), and RNA sequencing of the patients’ tumors, as well as WGS and WES of non-cancerous tissue from the same patient. WGS involves sequencing the patient’s complete genome, while WES involves sequencing those portions that are transcribed into mRNA, most of which codes for proteins. This work was part of the “Genomes for Kids” study (G4K), a large effort to understand how best to use genetic data for pediatric cancer diagnosis and treatment. Differing from other studies that require a specific diagnosis to participate, this study had no prerequisite beyond the presence of adequate tumor tissue for testing. “To my knowledge, this is the first study to offer comprehensive sequencing prospectively for all new patients with adequate samples," said Dr. Nichols. She also noted that the diversity of cancers that were tested helped to verify the relationships between genetic variants and disease. Dr.
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