NeuRA’s Group Leader of Neurogenomics, Professor Tony Roscioli, has been awarded an honorary fellowship of the Royal College of Pathologists of Australasia, recognised for his efforts in establishing diagnostic genomics in public sector medicine.

Professor Roscioli – also clinical genomicist and geneticist at NSW Health Pathology Randwick Genomics, and already a fellow of the UK’s Royal College of Pathology – was recognised for a contribution to genetic pathology that has been instrumental in building Australia’s Genomic Health Infrastructure.

His work has been fundamental in ensuring Australians receive world-class genetic testing through the public health system, leading to the discovery of more than 50 disease-causing genes.

Professor Roscioli’s most recent project was the PreGen study to offer whole-exome sequencing for parents whose fetuses had been flagged as potentially carrying genetic conditions through ultrasound.

Yet when Professor Tony Roscioli became a clinical geneticist in 2001, the discipline of genomics didn’t exist. The Human Genome Project, to sequence all 3.2 billion letters of a human genome, was a couple of years away from completion.

In a generation, everything has changed. The ability to read an individual’s entire DNA has given us the opportunity to identify rare conditions, and increase the level of successful diagnosis many times over.

“From 2000 to 2010, everything changed,” recalls Professor Roscioli. ​“The more I worked in genetics, the more I could see the potential of these changes.

“So 15 years ago I made the decision to try to build genomics into the system, to benefit more people. Rather than helping one family at a time, I wanted to work in the background to show how we could make available genomic testing in a way that was equitable to the whole population.

“To provide these services in the public health system has required a lot of advocacy for more resources. Not surprisingly, as genomics is changing almost too quickly, health systems are struggling to cope.”

Prof Roscioli has played a key role in PreGen’s groundbreaking work around prenatal genomic diagnosis, assisting over 400 families with fetal anomalies identified during pregnancy.

“The aim was a useful test that allows people informed choice and normalised the detailed sequencing of fetuses,” says Professor Roscioli. ​“In our detailed follow-up research, families supported the test we could offer them.”