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Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis

2022; Elsevier BV; Volume: 24; Issue: 5 Linguagem: Inglês

10.1016/j.gim.2022.01.020

1530-0366

Jathishinie Jegathisawaran, Kate Tsiplova, Robin Z. Hayeems, Christian R. Marshall, Dimitri J. Stavropoulos, Sérgio L. Pereira, Bhooma Thiruvahindrapuram, Eriskay Liston, Miriam S. Reuter, Roozbeh Manshaei, Iris Cohn, Rebekah Jobling, Raymond H. Kim, Seema Mital, Wendy J. Ungar,

Genetics and Neurodevelopmental Disorders

PurposeGenome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory workflows and microcosts of trio GS testing in children with developmental delay (DD) and in children with cardiac conditions.MethodsCost items related to each step in trio GS (child and 2 parents) for both populations were identified and measured. Program costs over 5 years were estimated. Probabilistic and deterministic analyses were conducted.ResultsThe mean cost per trio GS was CAD$6634.11 (95% CI = 6352.29-6913.40) for DD and CAD$8053.10 (95% CI = 7699.30-8558.10) for cardiac conditions. The 5-year program cost was CAD$28.11 million (95% CI = 26.91-29.29) for DD and CAD$5.63 million (95% CI = 5.38-5.98) for cardiac conditions. Supplies constituted the largest cost component for both populations. The higher cost per sample for the population with cardiac conditions was due to the inclusion of pharmacogenomics, higher bioinformatics labor costs, and a more labor intensive case review.ConclusionThis analysis indicated important variation in trio GS workflow and costs between pediatric populations in a single institution. Enhanced understanding of the clinical utility and costs of GS can inform harmonization and implementation decision-making.