Victorian Clinical Genetic Services (VCGS) is pleased to announce an exciting collaboration with Twist Bioscience, a leading synthetic biology and genomics company, to develop a bespoke whole exome sequencing assay for VCGS.

The assay uses whole exome sequencing to identify the cause of health and developmental problems and will help clinicians make informed decisions about treatment and management plans for their patients.

What is whole exome sequencing?
Whole exome sequencing is a process that ‘reads’ sections of genes that are called exons. These exons are thought to contain the most important information for providing the instructions for growth and development of the body.

These exome reads contain large amounts of genetic sequence information, which would require hundreds of hours for a scientist to analyse manually. Computers are used to quickly identify changes, or variants, in the genetic information.

This list of variants is then ‘interpreted’ by comparing the results with databases that list variants known or suspected of being associated with genetic conditions.

Interpretation is the most complicated and time-consuming component of exome sequencing because it involves input from many scientists and health professionals from different specialties to determine the significance of each variant detected.

In many cases, whole exome sequencing is used to seek answers for patients where other testing has failed to find the cause of their health problems.

Collaborative design paired with a multidisciplinary approach.
This novel whole exome assay was developed by combining Twist Bioscience’s chemistry with the extensive validated databases of known or suspected disease causing variants curated by VCGS over several years of offering accredited clinical testing. The assay offers better depth of coverage of regions that have historically been difficult to sequence.

The assay is paired with VCGS’s unique multidisciplinary team approach to provide comprehensive investigation and interpretation, to help support health professionals and patients to find answers to complex health conditions.

More information
You can learn more about genomic testing in healthcare on the Australian Genomics website: and If you have any questions about genetic and genomic testing, such as whole exome sequencing, we recommend speaking to your referring doctor.