Australian Standards of Care for Genetic and Genomic Testing in Kidney Disease

Genetic and genomic testing can refine diagnosis, prognosis, treatment, transplant assessment and family counselling for kidney disease, yet access remains uneven across Australia. These National Kidney Genomics Guidelines define a standard of care for genetic and genomic testing in nephrology and support the mainstreaming of genomic care while maintaining quality, governance and equity. The guidelines were developed by the KidGen Collaborative, comprising nephrologists, clinical geneticists, genetic counsellors, diagnostic laboratories, scientists and consumer advocates, including Aboriginal and Torres Strait Islander representatives. They underwent open review. Recommendations are graded by strength and by the quality of evidence. The document covers governance and multidisciplinary models; patient selection and phenotyping; clinical indications, including transplantation; test selection; consent; requesting and funding; interpretation of results; post-test management and re-analysis; familial variant testing; and patient and clinician support. Equitable access for rural and remote communities, culturally and linguistically diverse groups, and Aboriginal and Torres Strait Islander peoples is prioritised. Predictive testing of asymptomatic relatives and testing of children without immediate medical benefit should be conducted through specialised genetics services. Variants of uncertain significance should not guide management. The guidelines are intended for nephrologists, clinical geneticists, genetic counsellors and health-service decision-makers, and will be reviewed every three to five years, or sooner if practice-changing evidence emerges.