Randwick Genomics Hub pioneers new technology

Doctors and scientists from Sydney Children’s Hospital, Randwick and SEALS pathology service are engaged in an exciting joint project. The joint project sees them using a new technology, known as genomic sequencing, to provide diagnoses for genetic diseases, and promises to set the standard for research in paediatric rare diseases into the future.

This type of genetic testing, which has only been developed over the past five years, can test all genes at the same time.  This means it can identify not only genes known to cause diseases, but also new genes.

The work is being spearheaded by Dr Tony Roscioli at Sydney Children’s Hospital, Randwick and Dr Michael Buckley at SEALS, two of Australia’s “Genomicists”, both of whom did several years of post-graduate training at the world-leading genomics institute in Nijmegen, Netherlands.  Their research has involved clinicians from Genetics, Neurology and Immunology at Sydney Children’s Hospital, Randwick with four doctors working towards higher degrees. 

So far “exomes” for 41 families have been run in-house at SEALS pathology service for the diagnosis of 18 children with epilepsy and their parents, 19 with an intellectual disability, and four children with immunodeficiency where diagnosis had not previously been possible. 

The team has already produced a result for one child within five days, which stands as an Australian record.

With the cost falling to an anticipated $500 within a couple of years, such testing may soon be universally available.

“It has been exciting to see the great interest in this technology from clinicians at Sydney Children’s Hospital, Randwick and to see the benefits filtering through to children and their families,” Dr Roscioli says. 

This research is supported by grants from the NHMRC, NSW Cancer Council, the Ramaciotti Foundation, UNSW, the Jeffrey Modell Foundation, together with funding from NSW Health Pathology and a significant equipment donation from Kids Like Brett.

The research group has a number of major collaborations, notably with the Garvan Institute of Medical Research which itself possesses exceptional genomics facilities, and the University of Washington in Seattle, linking into international networks of scientific expertise needed to prove the relevance of any new gene identified. 

So far the research outcomes have been outstanding, with four strong candidates for novel genes causing disease.

Dr Roscioli is at pains to stress that offering diagnosis has been central to this success. 

“Paediatricians who send us their patients’ samples don’t want primarily to enter a research study.  They want a diagnosis, but are often happy to be involved in research if a new gene is identified.  We have several examples so far of patients where we looked for something known but ended up finding something new, and that is at the heart of our genomic testing strategy.”