Clinical genomicist and geneticist at NSW Health Pathology’s Randwick Genomics Laboratory, Professor Tony Roscioli, has been recognised for his significant contribution to the development of diagnostic genomics in Australia.

The Roy­al Col­lege of Pathol­o­gists of Aus­trala­sia (RCPA) has award­ed an hon­orary fel­low­ship to Pro­fes­sor Rosci­oli, clin­i­cal genomi­cist and geneti­cist at our Rand­wick Genomics Lab­o­ra­to­ry at its recent annu­al con­fer­ence in Sydney.

Prof Rosci­oli received the pres­ti­gious hon­our from RCPA Pres­i­dent Pro­fes­sor San­dra O’Toole (pic­tured above) at the RCPA Pathol­o­gy Update 2026 event, recog­nis­ing his work in estab­lish­ing diag­nos­tic genomics in pub­lic sec­tor medicine.

Already a fel­low of the UK’s Roy­al Col­lege of Pathol­o­gy, Prof Roscioli’s sig­nif­i­cant con­tri­bu­tion to genet­ic pathol­o­gy has helped to build Australia’s genom­ic health infrastructure.

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

Prof Rosci­oli said he was hum­bled to receive the fel­low­ship and said his work had evolved sig­nif­i­cant­ly over the last three decades.

“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.

“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.”

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.

RCPA Pres­i­dent San­dra O’Toole said she was delight­ed to recog­nise the achieve­ments of Prof Roscioli.

“I warm­ly con­grat­u­late Pro­fes­sor Tony Rosci­oli on being award­ed Hon­orary Fel­low­ship of the RCPA,” Prof O’Toole said.

“This is a sig­nif­i­cant hon­our that recog­nis­es out­stand­ing ser­vice and con­tri­bu­tion to the pro­fes­sion, and Tony’s work has been trans­for­ma­tive in bring­ing advanced genom­ic med­i­cine into rou­tine pub­lic health­care for the ben­e­fit of patients and fam­i­lies across Australia.”

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