Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

Juho Aaltio; Virva Hyttinen; Mika Kortelainen; Gerardus W J Frederix; Tuula Lönnqvist; Anu Suomalainen; Pirjo Isohanni

doi:10.1016/j.ejpn.2021.11.006

Cost-effectiveness of whole-exome sequencing in progressive neurological disorders of children

Eur J Paediatr Neurol. 2022 Jan:36:30-36. doi: 10.1016/j.ejpn.2021.11.006. Epub 2021 Nov 20.

Authors

Juho Aaltio¹, Virva Hyttinen², Mika Kortelainen³, Gerardus W J Frederix⁴, Tuula Lönnqvist⁵, Anu Suomalainen⁶, Pirjo Isohanni⁷

Affiliations

¹ Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland. Electronic address: juho.aaltio@helsinki.fi.
² VATT Institute for Economic Research, Helsinki, Finland; Department of Health and Social Management, University of Eastern Finland, Kuopio, Finland.
³ VATT Institute for Economic Research, Helsinki, Finland; Department of Economics, Turku School of Economics, Turku, Finland.
⁴ Department of Genetics, University Medical Center, Utrecht, the Netherlands; Julius Center for Health Sciences and Primary Care, University Medical Center, Utrecht, the Netherlands.
⁵ Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
⁶ Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland; HUS Diagnostics, Helsinki University Hospital, Helsinki, Finland.
⁷ Research Programs Unit, Stem Cells and Metabolism, University of Helsinki, Helsinki, Finland; Department of Child Neurology, Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

PMID: 34852981
DOI: 10.1016/j.ejpn.2021.11.006

Abstract

Objectives: To clarify the diagnostic utility and the cost-effectiveness of whole-exome sequencing (WES) as a routine early-diagnostic tool in children with progressive neurological disorders.

Methods: Patients with infantile-onset severe neurological diseases or childhood-onset progressive neurological disorders were prospectively recruited to this WES study, in the pediatric neurology clinic at Helsinki University Hospital during 2016-2018. A total of 48 patients underwent a singleton WES. A control group of 49 children underwent traditional diagnostic examinations and were retrospectively collected from the hospital records. Their use of health care services, related to the diagnostic process, was gathered. Incremental cost-effectiveness ratio (ICER) per additional diagnosis was calculated from the health care provider perspective. Bootstrapping methods were used to estimate the uncertainty of cost-effectiveness outcomes.

Results: WES provided a better diagnostic yield (38%) than diagnostic pathway that did not prioritize WES in early diagnosis (25%). WES outperformed other diagnostic paths especially when made early, within one year of first admission (44%). Cost-effectiveness in our results are conservative, affected by WES costs during 2016-18.

Conclusions: WES is an efficient and cost-effective diagnostic tool that should be prioritized in early diagnostic path of children with progressive neurological disorders. The progressively decreasing price of the test improves cost-effectiveness further.

Keywords: Cost-effectiveness; Encephalopathy; WES; Whole-exome sequencing.

MeSH terms

Child
Cost-Benefit Analysis
Exome Sequencing
Genetic Testing*
Humans
Nervous System Diseases* / diagnosis
Nervous System Diseases* / genetics
Retrospective Studies