The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Abstract

Broad conclusions about the cost-effectiveness of ES should be drawn with caution when relying on studies that use cost or yield assumptions that lie at the extremes of the benchmark ranges.

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome‐wide sequencing in British Columbia

“…In line with the utilization management studies discussed above, we have previously shown potential cost efficiencies resulting from the Genomic Consultation Service (Dragojlovic et al., ). A costing study conducted as part of the evaluation of the CAUSES Clinic indicated that the Genomic Consultation Service accounted for 15% of the total cost of delivering diagnostic GWS through CAUSES.…”

“…We did not demonstrate a significant difference between referrals from medical genetics versus other disciplines for appropriateness for clinical GWS and the CAUSES Study. We have also demonstrated that appropriate patient selection through this service improves the cost efficiency of delivering a diagnostic GWS program (Dragojlovic et al, 2018). The Genomic Consultation Service is a successful approach that enriches the selection of patients suitable for GWS (i.e., with monogenic disease) and provides physicians (particularly those external to medical genetics) with patient-specific genomic advice, which can support diagnostic care and applications to the Medical Service Plan (Ministry of Health).…”

Genetic counseling considerations with rapid genome‐wide sequencing in a neonatal intensive care unit

“…The results from the questionnaire that evaluated parental concerns, motivations, and views on receipt of IFs for parents, GAD‐7, PHQ‐8, and demographic data from the RAPIDOMICS cohort were compared to those from the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research clinic cohort. The CAUSES study, also trio‐based GWS, is ongoing and includes 500 pediatric patients with suspected genetic disease in an ambulatory care (outpatient) setting (Dragojlovic et al, ; Elliott et al, ). The average patient age is 10 years.…”

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders

“…Moreover, caregiver surveys can provide insights into the costs borne by the patient's family (eg, travel and time costs associated with travel to the tertiary care centre, which can be very high in a geographically large province like British Columbia) and can therefore facilitate economic evaluations of GWS services conducted from a societal perspective. Including all of these costs in economic evaluations of GWS should improve the robustness of existing cost‐effectiveness estimates, which is critical for an expensive test that may be clinically indicated for significant subsets of large patient populations (eg, the 1% of children who have ID).…”

“…For example, intellectual disability (ID), which affects about 1% of the population, has been linked to more than 450 genes and is estimated to have a genetic origin in 25% to 50% of cases . While GWS is generally much more effective than conventional diagnostic testing, the cost of using diagnostic WES and WGS in clinical settings remains high despite the dramatic decline in sequencing costs in the past 15 years . For example, microcosting analyses estimate the cost of WES between US$1000 and US$4000 per sample, and the analysis in children is often done in “trios”—which involves sequencing both parents as well as the affected child.…”