K JAYASINGHE1,2,3, Z STARK2,6, AJ MALLETT3,8, C QUINLAN2,3,5, S BEST4
1Monash Health, Melbourne, Australia, 2Murdoch Childrens Research Institute (MCRI), Melbourne, Australia, 3KidGen Renal Genetics Flagship, Australian Genomics Health Alliance, Australia, 4Macquarie University, Sydney, Australia, 5Department of Paediatric Nephrology, Royal Children’s Hospital, Melbourne, Australia, 6Department fo Paediatrics, Royal Children’s Hospital, Melbourne, Australia, 7University of Queensland, Brisbane, Australia, 8Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Australia
Introduction: Genomics has rapidly advanced understanding of many inherited kidney disorders. However, there is a discrepancy with clinicians’ use of genomics in routine clinical care. This study has two aims: review the literature to identify barriers that may hinder implementation of genomics in adult nephrology; and to set out a theory-informed research plan on adult nephrologist uptake of clinical genomics.
Literature Review: We searched PubMed and MEDLINE for original and review articles until 28/02/2018 on nephrologists’ knowledge and practice of genomics/genetics. Given the paucity of data, we also included other subspecialists. Most studies focused on oncologists, obstetricians/gynecologists and general physicians. Many lacked a theoretical basis. Emerging themes were needs for effective education strategies and organizational support, and importance of genetic counsellors facilitating implementation.
Study Protocol: The literature review informed the study protocol. Specifically, a web-based cross-sectional survey was developed to evaluate barriers and facilitators to the uptake of genomics amongst Australian nephrologists and trainees. The Consolidated Framework for Implementation Research (CFIR) is a well-utilized, multi-level implementation theory-informed framework applicable in study designs. Questions were based around the CFIR, validated by an expert team in implementation and survey design and further revised following feedback from a pilot survey. Participants were queried regarding their perception/attitude towards genetic testing, preferred method of learning about genetics/genomics, and preferences in terms of support and model of service delivery to establish a baseline of practitioner views to guide further research and implementation strategies.
Conclusion: There is a lack of literature reporting nephrologists’ knowledge and practice of genomics/genetics, though themes from other subspecialties are informative. A CFIR-based survey to clarify this has been generated and piloted and will be deployed between 8-12/09/2018.
Dr. Jayasinghe graduated from medical school at Monash University in 2010. She undertook her basic physician training at Monash Health, followed by nephrology advanced training in nephrology at the Royal Prince Alfred Hospital, Concord Hospital in Sydney and Monash Health in Melbourne. She completed a Master of Medicine (Clinical Epidemiology) in 2017. Dr Jayasinghe was awarded her Fellowship of the Royal Australian College of Physicians in Nephrology in 2017. Her PhD programme within Monash Clinical School will investigate the clinical utility and cost effectiveness of whole exome sequencing in patients with inherited kidney disease.