Dr Sadia Jahan1,2, Christopher Davies3,4, Dr Georgina Irish2,3,4, Dr Dana Forcey3, Dr Eric Au3,5,6, Dr Amali Mallawaarachchi7,8, Dr Hugh McCarthy9,10,11, Dr Jacqueline Soraru12,13, Prof Andrew Mallett1,14,15
1Royal Adelaide Hospital, Adelaide, Australia, 2College of Medicine and Dentistry, Townsville , Australia, 3Australia & New Zealand Dialysis & Transplant Registry, Adelaide, Australia, 4Faculty of Health & Medical Sciences, University of Adelaide, Adelaide, Australia, 5School of Population and Global Health, University of Melbourne, Melbourne, Australia, 6Alfred Hospital, Melbourne, Australia, 7Molecular Genetics of Inherited Kidney Disorders Lab, Garvan Institute, Sydney, Australia, 8Royal Prince Alfred Hospital, Sydney, Australia, 9Child and Adolescent Health, University of Sydney, Sydney, Australia, 10Departments of Nephrology, Sydney Children’s Hospitals Network, Sydney, Australia, 11Centre for Kidney Research, Children’s Hospital at Westmead, Sydney, Australia, 12Department of Nephrology and Hypertension, Perth Children’s Hospital, Perth, Australia, 13Department of Nephrology and Renal Transplantation, Fiona Stanley Hospital, Perth, Australia, 14Department of Renal Medicine, Townsville University Hospital, Townsville, Australia, 15Institute for Molecular Bioscience, UQ, Brisbane, Australia
Biography:
Nephrologist and PhD candidate
Aim:
To describe implementation and initial results of the new genetic testing data within the Australia and New Zealand Dialysis and Transplant (ANZDATA) Registry.
Background:
ANZDATA is a clinical quality registry, collecting data of patients with kidney failure. Three new genetic testing fields were added in 2023, with data available between 01/01/2023 and 31/12/2023.
Methods:
All adults and children in whom genetic testing was reported were included and presented via descriptive statistics.
Results:
Since the introduction of genetic test fields, 239 patients were reported to have had a genetic test, and in 45% (108/239) their primary kidney disease was diagnosed from the test. In comparison to those who did not have a genetic test (12210), patients with genetic test were more often aged <18 years (28.5% vs 0.6%, p<0.001), started dialysis at a younger age (median 30 vs 57 years, p<0.001) and were transplanted (65.3% vs 31.3%, p<0.001), quicker than those without a test (median 0.8 years vs 1.6 years, p<0.001). Among those whose diagnosis was made from the genetic test, 31.5% (34/108) were aged <18 years, and familial/hereditary kidney disease was most common (58/108, 54.7%). There were similar rates of native kidney biopsies in those who had their primary disease diagnosed from test than not (49/108 vs 54/114). VIC (n=78), NSW (n=66), QLD (n=44) and NZ (n=33) had the largest numerical contribution to those with genetic testing. The common reported causative genes were PKD1 (13/107), COL4A5 (12/107), NPHS1 (10/107), TRPC6 (6/107), NPHP1 (5/107) and UMOD (5/107).
Conclusion:
As genetic testing is increasingly utilised in nephrology, data entered into ANZDATA via the new genetic testing fields may enable new insights and greater quality assurance.