Our Services

We provide clinical genomics service to adult patients, including genetic assessment, genetic diagnosis, genetic/genomic testing, pre-test and post-test counselling, result interpretation, consultative advice on rare disease management and genetic risk management, for individuals and their families.

A range of genetic/genomic testing options will be available, including whole genome sequencing (WGS), whole exome sequencing (WES), targeted gene panel testing, and single gene/variant testing, depending on the clinical needs.

The service also offers Australia’s first Preventive Genomics (aka Wellness Genomics), which is an evidence-based and innovative use of genomic testing, aiming to proactively identify genetic health risks in healthy adults, and address these genetic risks to prevent and/or delay the onset of illness. Preventive Genomics Testing will focus on:

• Genetic risks for cardiovascular diseases, cancer, diabetes, vascular connective tissue dysplasia, retinopathy, and metabolic genetic disorders, based on the ACMG actionable genes.
• Pharmacogenomics – predicting medication response based on CPIC actionable variants impacting pharmacokinetic and pharmacodynamic responses of drugs, results can be used to tailor medications and dosing.
• Reproductive carrier screening – for couples planning a family to reduce the risk of having a child with recessive or X-linked genetic conditions.

Our Specialists