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Abstract: PO1990

An Ethical Decision-Making Framework for Genomic Testing in Pediatric Kidney Disease

Session Information

Category: Pediatric Nephrology

  • 1700 Pediatric Nephrology

Authors

  • Beadell, Inez, The University of Melbourne Melbourne Medical School, Melbourne, Victoria, Australia
  • Wilkins, Ella Jane, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
  • White, Susan M., The University of Melbourne Melbourne Medical School, Melbourne, Victoria, Australia
  • Brett, Gemma R., The University of Melbourne Melbourne Medical School, Melbourne, Victoria, Australia
  • Stark, Zornitza, The University of Melbourne Melbourne Medical School, Melbourne, Victoria, Australia
  • Lim, Michelle, The Royal Children's Hospital Melbourne, Parkville, Victoria, Australia
  • Quinlan, Catherine, The University of Melbourne Melbourne Medical School, Melbourne, Victoria, Australia
Background

Technological advances and increased access have led to genomics expanding beyond the genetics specialty. As a result, non-genetic specialists, including nephrologists, can now order genomic testing for their patients. Consistent decision-making around patient and test selection is required to ensure equitable access while maximizing the utility of genomic testing, from a patient and resource perspective. However, there are currently no frameworks to guide decision-making for genomic testing in pediatric nephrology. We aimed to develop an ethical decision-making framework to guide genomic testing decision-making in pediatric kidney disease.

Methods

A three-stage approach was used: 1) review of the literature on decision-making for genomic testing in nephrology and other disciplines; 2) observation of approaches to genomic testing in the general nephrology clinic and the renal genetics clinic at an Australian pediatric hospital; 3) review and revision of the framework with key stakeholders, including clinical geneticists, genetic counselors, pediatric nephrologists, clinical ethicists, and families from the renal genetics service. The initial framework was modified until consensus from key stakeholders was reached.

Results

A decision-making framework was created. This framework outlines the key decision-making categories and sub-categories for patient selection, with corresponding questions to aid usage. A number of case studies were developed to demonstrate the framework’s application. Key factors influencing utilization of the framework were identified, particularly funding pathway, clinical environment, and patient population.

Conclusion

The framework will guide decisions around patient-selection for genomic testing in nephrology at the Australian pediatric hospital of origin as well as other institutions and disciplines. In doing so, it will facilitate consistent approaches to genomic testing, to maximise equity and utility.