A KANSAL1, P KERR2,3, A MALLETT6,7,12, C QUINLAN4,8,12, Z STARK4,5,6,12, B MCCLAREN4,6,9, S BEST6,10, K JAYASINGHE2,3,4,12

1Eastern Health, Melbourne, Australia, 2Monash Health, Melbourne, Australia, 3Monash University, Melbourne, Australia, 4Murdoch Children’s Research Institute, Melbourne, Australia, 5Victorian Clinical Genetics Services, Melbourne, Australia, 6Australian Genomics Health Alliance, Australia, 7Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia, 8Department of Paediatric Nephrology, Royal Children’s Hospital, Melbourne, Australia, 9The University of Melbourne, Melbourne, Australia, 10Macquarie University, Australia, 11Department of Medical Genomics, Royal Prince Alfred Hospital, Sydney, Australia, 12KidGen Collaborative, Australian Genomics Health Alliance, Australia

Aim: To explore barriers and identify specific interventions that may help improve uptake of genomics within nephrology.
Background: Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology.
Methods: We designed a cross-sectional qualitative study, building on formative research, using interviews informed by the Consolidated Framework of Implementation Research (CFIR). We identified nephrology units from Australia at random, and unit heads were invited to nominate participants based on background (e.g. unit head, advanced trainee, nephrologist, public/private, interest in genomics). Data was analysed deductively using the CFIR according to physician type.
Results: Early interview findings (N=10) from four states revealed the most common barriers among physicians included limited perceived clinical usefulness of genomic testing, inadequate funding for tests and infrastructure (e.g. dedicated clinic space and staff), and lack of a local genomics champion. Half of the clinicians interviewed did not have access to local renal genetics clinic but were aware of a referral service offered at another hospital. The highest prioritised intervention identified was a local genomics champion who could provide links to genomics expertise within the department (highlighted by almost all interviewees). Other interventions that frequently emerged were a greater focus on genomics within annual scientific meetings, incorporating a genomics rotation for advanced trainees, and access to local multidisciplinary renal genetics clinic.
Conclusion: Barriers for genomics implementation were multifaceted. Most clinicians looked towards experts within their own speciality for guidance on genetic testing and referral processes. Interventions should focus on improving communication and access to local genomics expertise as a first step in order to improve referrals and access to genomic testing in kidney disease patients.

Nephrology Advanced Trainee from Victoria currently undertaking second year of training

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