About our Genomics service

NSW Health Pathology is a world leader in genomics, the study of a person’s complete set of genes.

We perform more than 80,000 genetic and genomic tests a year giving new insights into:

• rare genetic diseases
• cancer
• infectious diseases caused by pathogens.

Service overview

Our Genomics service:

• offers DNA sequencing for rare disorders
• performs gene panel testing for rare disorders, inherited cancers and tumour profiling, and
• uses Whole Genome Sequencing (WGS) to track the origins, evolution and spread of infectious organisms that cause disease.

Our internationally-recognised, highly-skilled genetic pathologists and scientists are developing faster, more efficient tests for an ever-expanding range of genomic applications. This is vital to how we can help prevent or treat hereditary conditions such as cancer and heart disease.

We are using genomics in new ways to improve patient care and the health of our communities.

Learn more about genetic conditions 

Visit the Centre for Genomics Education for fact sheets on genetic conditions.

Why we love genomics  

Meet some of our talented and dedicated Genomics staff and find out why they find their careers so rewarding.

• Eva Chan, bioinformatician
• Corrina Cliffe, genomic hospital scientist
• Edwin Kirk, genetic pathologist