EARLY GENOMIC SEQUENCING INCREASES DIAGNOSTIC YIELD AND IS COST EFFECTIVE IN CHILDREN

K JAYASINGHE1,2,3, E WU8, P KERR1,2, A MALLETT6,9, Z STARK4,9, M MARTYN3,5, C GAFF3,5, I GORANITIS9, C QUINLAN3,7,8

1Monash Health, Clayton, Australia, 2Monash University, Clayton, Australia, 3Murdoch Children’s Research Institute, Melbourne, Australia, 4Victorian Clinical Genetics Services, , Melbourne, Australia, 5Melbourne Genomics Health Alliance, Melbourne, Australia, 6Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane,  Australia, 7Department of Paediatric Nephrology, Royal Children’s Hospital, Melbourne, Australia, 8THE UNIVERSITY OF MELBOURNE, Parkville, Australia, 9Australian Genomics Health Alliance, , Australia

Aim: To evaluate the cost-effectiveness of exome sequencing (ES) in patients with suspected genetic kidney disease (GKD) compared with current standard diagnostic care, and to evaluate the optimal timing of ES.
Background: There is an urgent need to determine the health economic value of genomic testing in kidney disease patients.
Methods: This model based economic analysis was informed by a pragmatic, multicenter study which included 87 patients with suspected monogenic glomerular disease. Resource use for non-genomic investigations were also informed by data from the cohort, in addition to current guidelines. Six diagnostic strategies reflecting current practice were compared.
Results: ES achieved a diagnosis in 23/63(36.5%) adults and 10/24(41.6%)  children. The average cost of ES (including sequencing, analysis, and related consultations) was $2,355 in both children and adults.
Children: Standard investigations were estimated to diagnose 4.0%, with an average estimated cost of $6,119 per child. Integrating ES as a first line test was cost saving, with an incremental cost saving per additional diagnosis of $3,230 compared to standard diagnostic care.
Adults: Standard investigations were estimated to diagnose 7.9%, with an average estimated cost of $1,834 per adult, (including a biopsy rate of 70%). Integrating ES early resulted in an incremental cost per additional diagnosis of $5,456 relative to standard care.
Conclusions: Integrating ES early in the diagnostic pathway is likely to be more effective and less costly for establishing a diagnosis and informing care in children. In adults, the incremental cost per additional diagnosis may be justified, depending on the value of a genomic diagnosis. Applying ES as a last resort test resulted in considerably higher cost compared with earlier application in the diagnostic trajectory.


Biography:
Dr Kushani Jayasinghe is an adult nephrologist based at Monash Health with an interest in genetic kidney disease. Her PhD studies through Monash University focuses on the clinical utility and feasibility of genomic sequencing in patients with suspected genetic kidney disease.

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