Exome Sequencing for Isolated Congenital Hearing Loss: A Cost‐Effectiveness Analysis

Abstract

Objectives/Hypothesis: To assess the relative cost-effectiveness of exome sequencing for isolated congenital deafness compared with standard care.Study Design: Incremental cost-effectiveness and cost-benefit analyses were undertaken from the perspective of the Australian healthcare system using an 18-year time horizon.Methods: A decision tree was used to model the costs and outcomes associated with exome sequencing and standard care for infants presenting with isolated congenital deafness.Results: Exome sequencing resulted in an incremental cost of AU$1,000 per child and an additional 30 diagnoses per 100 children tested. The incremental cost-effectiveness ratio was AU$3,333 per additional diagnosis. The mean societal willingness to pay for exome sequencing was estimated at AU$4,600 per child tested relative to standard care, resulting in a positive net benefit of AU$3,600. Deterministic and probabilistic sensitivity analyses confirmed the cost-effectiveness of exome sequencing.Conclusions: Our findings demonstrate the cost-effectiveness of exome sequencing in congenital hearing loss, through increased diagnostic rate and consequent improved process of care by reducing or ceasing diagnostic investigation or facilitating targeted further investigation. We recommend equitable funding for exome sequencing in infants presenting with isolated congenital hearing loss.

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss

“…WES performed on a cohort of 61 children and 9 adult patients with HL identified a genetic etiology in 52.5% of children and 22.2% of adults. Our diagnostic yield in the child cohort was within the upper range (10-80%) of results published in the literature [1,2,59,60].…”

“…When including the four children excluded from our exome cohort, our diagnostic rate reached 55.4% in this population. The inclusion of greater numbers of deafness genes and the addition of CNV analysis can also increase the diagnostic yield [60]. In our cases, we used large gene panels and pipeline analysis optimized to identify CNV.…”

Economic evaluation of next‐generation sequencing techniques in diagnosis of genetic disorders: A systematic review

“…In the second stage, based on the title and abstract of the articles, 20 149 studies were excluded, and in the third stage, after careful study of the text of the remaining studies, 336 studies were eliminated. Finally, 36 studies which had examined the economic evaluation of NGS methods in the diagnosis of genetic diseases were included in this review 2,14–45 . Figure 1 shows the process of searching for studies.…”

“…Seven studies were performed on the lifetime time horizon 15–18,24,40,47 . In addition, a number of studies were conducted in the time horizons of 1 year ( n = 5), 2,23,27,29,31 2 years ( n = 1), 45 3 years ( n = 3), 30,32,44 5 years ( n = 1), 26 18 years ( n = 1), 21 20 years ( n = 1), 37 25 years ( n = 2), 20,48 30 years ( n = 1), 28 437 days ( n = 1), 39 and 1315 days ( n = 1) 14 . Thirteen studies were conducted based on modeling 14,16,18–21,24–29,31,32,35,40,45 .…”

Clinicians’ Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss

“…First, exome sequencing increases diagnostic yield, which subsequently improves the quality of care infants receive, either through reducing the need for, or allowing for furthermore targeted further diagnostic investigations [ 2 ]. The cost-effectiveness of such testing has also been demonstrated based on these factors [ 13 ]. Second, parents who are hoping to receive an answer for their child’s hearing loss may obtain benefit, such as through reduced anxiety, if they can receive this information earlier in the diagnostic journey.…”