Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

# The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders

## Abstract

### Purpose

This study describes the cost trajectory of the standard diagnostic care pathway for children with suspected genetic disorders in British Columbia, Canada.

### Methods

Average annual per-patient costs were estimated using medical records review and a caregiver survey for a cohort of 498 children referred to BC Children’s and Women’s Hospitals (C&W) with unexplained intellectual disability (the TIDE-BC study) and families enrolled in the CAUSES study, which offered diagnostic genome-wide sequencing (GWS; exome and genome sequencing) to 500 families of children with suspected genetic disorders.

### Diagnosis-related physician consultations at C&W

Based on data from 91 CAUSES patients’ medical records, the mean length between CAUSES patients’ first consultation at C&W and their enrollment in CAUSES was 4.5 years (sd = 2.2), during which they had an average of 23.6 (sd = 26.4) physician consultations at C&W, including an average of 11.3 (sd = 9.5) diagnosis-related consultations. Overall, 48% of C&W consultations were coded as diagnosis-related, which is consistent with data from the caregiver survey. Specifically, caregivers (n = 257) reported an average of 2.4 (sd = 3.0) C&W visits for their child in the six months prior to survey admission, and an average of 1.3 (sd = 2.1) diagnosis-related visits, indicating that 54% of C&W visits were primarily diagnosis-related, which is in the same range as the 48% resulting from our classification criteria.

These C&W consultations translated to an average cost up to the end of the study period of C$1940 (sd = C$1641) for diagnosis-related physician consultations and C$2744 (sd = C$2708) for total physician consultations at C&W for this sample of patients. The trajectory of average annual per-patient diagnosis-related physician consultation costs was similar to that for diagnostic testing costs, with a high initial consultation cost of C$631 (95% CI C$543, C$727) in year 1 and a relatively stable average annual consultation cost of C$334 (95% CI C$295, C$369) per patient per year in the following seven years of patients’ pre-CAUSES diagnostic trajectory (Fig. 2).

### Non-C&W physician consultations

Caregivers of CAUSES patients reported a mean of 3.3 (95% CI 2.8, 3.9) physician visits outside of C&W for their child in the six months prior to wave 1 survey completion, with 1.3 (95% CI 1.0, 1.6) of those visits being primarily diagnosis-related. This translates into an average cost of $81 per patient every 6 months ($162 per year) in diagnosis-related non-C&W physician visits. There were no statistically significant differences in utilization between families who reported a diagnosis via CAUSES and those who reported no diagnosis (Table 2). The only statistically significant difference (p < 0.05) found was between wave 1 (before GWS results) and wave 2 (6 months after return of GWS results) diagnostic physician visits for patients who received a diagnosis, which declined from an average of 1.5 (95% CI 0.9, 2.3) visits (C$93 [95% CI C$53, C$145]) in the wave 1 survey to 0.4 (0.2 to 0.6) in wave 2 (C$22 [95% CI C$12, C$34]). The number of diagnostic visits remained stable for those who did not receive a diagnosis (Table 2).

## Author information

Authors

### Corresponding author

Correspondence to Larry D. Lynd PhD.

## Ethics declarations

### Disclosure

The authors declare no conflicts of interest.

Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

## Rights and permissions

Reprints and Permissions

Dragojlovic, N., van Karnebeek, C.D.M., Ghani, A. et al. The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders. Genet Med 22, 292–300 (2020). https://doi.org/10.1038/s41436-019-0635-6

• Accepted:

• Published:

• Issue Date:

• DOI: https://doi.org/10.1038/s41436-019-0635-6

### Keywords

• diagnostic pathway
• diagnostic costs
• cost trajectory
• genetic disorders
• genome-wide sequencing

• ### Toward the diagnosis of rare childhood genetic diseases: what do parents value most?

• Samantha Pollard
• Deirdre Weymann
• Dean A. Regier

European Journal of Human Genetics (2021)

• ### Clinical utility of genomic sequencing: a measurement toolkit

• Robin Z. Hayeems
• David Dimmock
• Euan Ashley

npj Genomic Medicine (2020)

• ### A Review of Health Economic Studies Comparing Traditional and Massively Parallel Sequencing Diagnostic Pathways for Suspected Genetic Disorders

• Patrick Fahr
• James Buchanan
• Sarah Wordsworth

PharmacoEconomics (2020)