Dr Kushani Jayasinghe1, A/Prof Stephani Best5, Dr Asheeta Gupta8, Professor Paul James4,5, Professor Peter Kerr1,3, Dr Sebastian Lunke6, Dr Kathleen Nicholls4,5, Dr Lokman Pang4, Ms Ella Wilkins2,5,6, Dr Bryony Thompson4,5, Ms Rigan Tytherleigh2,5,9, Professor Zornitza Stark5,6, A/Prof Catherine Quinlan2,5,7
1Monash Health, Clayton, Australia, 2Murdoch Children’s Research Institute, Melbourne, Australia, 3Monash University, Melbourne, Australia, 4Melbourne Health, Melbourne, Australia, 5The University of Melbourne, Melbourne, Australia, 6Victorian Clinical Genetics Services, Melbourne, Australia, 7The Royal Children’s Hospital, Melbourne, Australia, 8Great Ormond Street Hospital, London, United Kingdom, 9Melbourne Genomics Health Alliance, Melbourne, Australia
Biography:
Dr Kushani Jayasinghe is a consultant nephrologist and clinical geneticist at Monash Health. She has a special interest in genetic kidney disease and is the clinical lead for genetic kidney disease at Monash Health. She completed her PhD research at Monash University on the clinical utility and feasibility of genomic sequencing in kidney disease.Dr Jayasinghe is passionate about improving the uptake of genomic medicine in routine nephrology care, which is a focus of her postdoctoral research at Monash University
Aim:
Describe genomic testing outcomes across Victoria before and after the model of care.
Background:
Despite availability of MBS reimbursement, genomic testing remains underutilized. To address this challenge, in 2023 we trialed a new model of care comprising 1) multidisciplinary-team-meetings, 2) decision-support-tools, 3) upskilling genomic champions (nurses, genetic counsellors and nephrologists) at four tertiary sites to support mainstreaming.
Methods:
We conducted an audit through Victorian clinical genomic testing laboratories. We collected data on patient/provider demographics and genomic test outcomes at four tertiary sites. Data was compared between 12-months prior to/early in the intervention and the 12-month period post-intervention.
Results:
Pre-intervention, 248 genomic tests were ordered (115 children,133 adults) across four tertiary sites. Ordering clinician was known for 243 tests, of which nephrologists ordered 161 (66%, 5 missing). Post-intervention, 378 genomic tests were ordered (178 children, 200 adults) with nephrologists ordering 331/373 (89%, 5 missing). The proportion of patients tested in a mainstream setting increased following the intervention (82/230,36% before versus 198/328(64%) after). The proportion of tests ordered by non-champion nephrologists increased post the intervention (68/243 versus 197/373, p<0.001).
The overall diagnostic yield was 86/248(35%) pre-intervention and 111/364 (30%) post-intervention. The diagnostic yield for children was 34/115(30%) pre-intervention and 31/168(18%) post-intervention, while the diagnostic yield for adults was 52/133(39%) and 80/196(41%) pre- and post-intervention respectively. The median turn-around time from the test appointment to result report was 83 days (IQR 64-114) pre-intervention, and 98 days (IQR 80-131 days) post-intervention.
Conclusion:
The mainstream model of care in Victoria resulted in increased number of tests being ordered, predominantly by nephrologists. Diagnostic yield was maintained, with differences between adults and children reflective of patterns of prior testing.
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