Twist Bioscience and Australian prenatal, childhood, and adult genetics services provider Victorian Clinical Genetic Services (VCGS) announced they have co-developed a novel whole-exome capture assay for use in diagnosing rare diseases as well as for prenatal and pediatric genetic screening.
Development of the new test combines Twist’s Human Comprehensive Exome with customized and validated inherited and rare disease content from VCGS. The new assays focus on minimizing gaps in clinically relevant genes and transcripts.
“Our collaboration with Twist has provided us with a unique whole exome analysis solution that provides comprehensive and consistent high-quality results in all clinically relevant regions, said Sebastian Lunke, Ph.D., head of the Division of Genetics and Genomics at VCGS and the Murdoch Children’s Research Institute in Melbourne, Australia. “The uniformity of coverage achieved using the Twist approach means there are fewer gaps in clinically relevant data, providing a high quality, high value service for our customers.”
The assay design allows it to target difficult to cover, non-coding regions outside the normal exome that are known to contain pathogenic variants, providing a new source of data for clinicians from which to make treatment decision. The assay allows for reanalysis of data when new disease-causing genes are discovered and it provides flexibility to be run in single samples, or batched, to allow for urgent analysis of clinical samples.
VCGS is an Australian not-for-profit subsidiary of Murdoch Children’s Research Institute and one of the largest contributors driving genetic healthcare, research and policy in that country. Located at The Royal Children’s Hospital, Melbourne, VCGS provides an integrated genetic consultation, counselling, testing and diagnostic service for children, adults and families.
“As one of the largest providers of genetic services in Australia, VCGS helps families identify the potential cause of diseases, often at the prenatal stage. We are pleased to enable this specific and important screening for VCGS,” said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience.