Policy & Regulation
Twist Bioscience, Victorian Clinical Genetic Services Collaborate on Development of Novel Whole Exome Capture Diagnostic Assay
19 February 2021 - - US-based synthetic DNA provider Twist Bioscience Corp. (NASDAQ: TWST) and Australian-based specialist provider of prenatal, childhood and adult genetics services Victorian Clinical Genetic Services have developed a novel whole exome capture assay, the companies said.

The assay, which utilizes Next Generation Sequencing to conduct analysis and sequencing of the entire exome, has been designed to maximize clinical utility, particularly for diagnostics and carrier screening.

It will be used to help inform clinical management decisions for patients and their families.

The assay was developed by combining Twist's Human Comprehensive Exome with customized and validated inherited and rare disease content from VCGS, with a specific focus on minimizing gaps in clinically relevant genes and transcripts.

In particular, the assay can target difficult to cover, non-coding regions outside the normal exome that are known to contain pathogenic variants, resulting in high-quality actionable data for clinicians. The assay also allows for reanalysis of data when new disease-causing genes are discovered.

VCGS is accredited by Australian authorities to use this assay as an in vitro diagnostic product.

Exome sequencing has become a widely-used practice in clinics and diagnostic labs.

The Twist Comprehensive Exome assay expands upon the content of the Twist Human Core Exome to include coverage of more than 99% of protein-coding genes from all three key public genetic databases: CCDS, RefSeq and GENCODE, providing best-in-class coverage of the most up-to-date content.

In addition, the assay can be customized quickly and affordably. Because of the updated and comprehensive coverage, the new assay allows customers to increase confidence in variant detection experiments while enjoying maximum sequencing efficiency and best coverage uniformity.

Victorian Clinical Genetics Services is a specialist prenatal, childhood and adult genetics service.

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 the country.

Located on site at The Royal Children's Hospital, Melbourne, VCGS provides an integrated genetic consultation, counselling, testing and diagnostic service for children, adults and families.

VCGS works closely with a wide range of support groups and health professionals, including general practitioners and specialists, to support them with the diagnosis and care of their patients, and to understand often rare and complex conditions.

Clinical geneticists and genetic counsellors work in consultation with medical scientists and clinical bioinformaticians to provide the most accurate interpretation of genetic data.

VCGS has a reputation for reliability, quality and exemplary service and is valued and trusted by health professionals in Australia and overseas.

Twist Bioscience is a leading and rapidly growing synthetic biology and genomics company that has developed a disruptive DNA synthesis platform to industrialize the engineering of biology.

The core of the platform is a proprietary technology that pioneers a new method of manufacturing synthetic DNA by "writing" DNA on a silicon chip.

Twist is leveraging its technology to manufacture a range of synthetic DNA-based products, including synthetic genes, tools for next-generation sequencing preparation, and antibody libraries for drug discovery and development.

Twist is also pursuing longer-term opportunities in digital data storage in DNA and biologics drug discovery. Twist makes products for use across many industries including healthcare, industrial chemicals, agriculture and academic research.