E WILKINS1,2,3, Z STARK1,2,3,, S WHITE1,2,3,4, A MALLETT1,2,5, C QUINLAN1,2,4,6

1KidGen Renal Genetics Flagship, Australian Genomic Health Alliance, Melbourne, VIC; 2Murdoch Childrens Research Institute, Melbourne VIC; 3Victorian Clinical Genetics Service, Melbourne, VIC; 4Department of Paediatrics, University of Melbourne, Melbourne, VIC; 5Kidney Health Service, Royal Brisbane and Women’s Hospital, Brisbane, QLD; 6Department of Nephrology, Royal Children’s Hospital, Melbourne, VIC

Aim: To evaluate processes and outcomes of the joint Royal Children’s Hospital and Victorian Clinical Genetics Services Renal Genetics Clinic in order to inform future practice.

Background: Our understanding of the genetic factors involved in many conditions is continually evolving, and the availability of genomic testing is rapidly expanding, creating a necessity for new services, new ways of working, and modified professional roles in order to maximize benefit to patients and families. The multidisciplinary clinic is one model to achieve this and integrate genetics into mainstream medicine.

Methods: A retrospective clinical audit of the first 14 months of the Clinic was conducted.

Results: The Clinic was established in February 2016, with the aim of improving diagnosis rates and informing management in patients with suspected genetic renal disease. The clinic team includes a nephrologist, clinical geneticist, genetic counsellor, and administrative support, with each member of the team contributing unique expertise and benefitting from opportunities to cross-train and up-skill.

Patients typically attended for one or more of: clinical diagnostic assessment, genetic counselling, genetic/genomic testing, and/or research recruitment; and benefitted from multidisciplinary case review before, during, and after appointments. In addition, the clinic team contributes to KidGen, an Australian collaboration between clinical, diagnostic and research teams that aims to better understand inherited renal disease.

Data for 34 patients is presented, including instances of genetic diagnosis leading to altered management.

Conclusions: Results of the audit provide insight into the first paediatric multidisciplinary renal genetics clinic in Australasia. Outcome data has demonstrated benefits for patient care, as well as opportunities for biological relatives to access genetics services. Anecdotal evidence supports staff satisfaction with the service model and professional development opportunities.

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