Fast, accurate diagnosis of rare genetic disorders.
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
- infectious diseases caused by pathogens.
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.
Acting Associate Director of GenomicsView Profile
Ms. Nicole Pearce
Clinical Services Operations Manager - GenomicsView Profile
Senior Hospital Scientist, Statewide Services - GenomicsView Profile
Ms Kristen Palmer
Statewide Genomics Project ManagerView Profile
Dr. Eva Chan
Senior BioinformaticianView Profile
NSW Health Pathology
Media ManagerView Profile