The Department of Diagnostic Genomics, PathWest, is actively involved in ongoing translational research projects.

Current projects

McKenzie’s Mission (Preconception Carrier Screening Project)

Diagnostic Genomics is one of three genetics laboratories across Australia that have been invited to run this Medical Research Future Fund (MRFF) funded project to test up to 10,000 couples for rare inherited pathogenic variants. The aim of the project is to identify if a couple is at risk of having a baby with a severe life threatening inherited disease.  

Introduction of non-invasive fetal Rhesus genotyping for pregnant women in Western Australia

This translational research project is assessing the feasibility of non-invasive fetal RhD testing during pregnancy for women who are RhD negative to reduce the administration of unnecessary anti-D prophylaxis.

Diagnosis of epigenomic signatures underlying developmental disorders

Patients with developmental delays/intellectual disability can have epigenetic (DNA methylation) defects. Recently, a clinically validated method using methylation microarrays for detection of numerous disorders associating with epigenetic defects, has demonstrated a good diagnostic yield in North America. PathWest is assessing the clinical utility of this testing in the Australian testing landscape, including the possibility of identification of underlying molecular defects in undiagnosed patients.

Innovative approaches for detection of repeat expansion/contraction disorders

This project aims at clinical validation of novel approaches to assess disorders due to sequence repeat expansions or contractions.

Novel aspects of genetic splicing variation underlying inherited disorders and cancer

In the expansion of the diagnostic arsenal for genetic/genomic disorders, RNA sequencing is becoming increasingly important. We are participating in national research disentangling splicing variation in health and disease.