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



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


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.


Direct costs peaked in the first year of patients’ diagnostic odyssey, with an average of C$2257 per patient (95% confidence interval [CI] C$2074, C$2441) for diagnostic testing and C$631 (95% CI C$543, C$727) for specialist consultations at C&W. In subsequent years, direct costs accrued at a constant rate, with an estimated annual per-patient cost of C$511 (95% CI C$473, C$551) for diagnostic testing and C$334 (95% CI C$295, C$369) for consultations at C&W. Travel costs and caregiver productivity loss associated with attending diagnosis-related physician appointments averaged C$1907/family/year.


The continuing long-term accrual of costs by undiagnosed patients suggests that economic evaluations of diagnostic GWS services should use longer time horizons than have typically been used.

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This study was supported by grants from the BC Children’s Hospital Foundation (1st Collaborative Area of Innovation to TIDE-BC), the Rare Diseases Foundation (C.D.M.v.K.), Rare Disease Foundation Microgrant (P.B. and D.G.), the Canadian Institutes of Health Research (CIHR) grant 301221 (to C.D.M.v.K), and the CIHR New Emerging Team for Rare Diseases grant (to L.D.L., funding reference number 119193), as well as by the CAUSES Clinic study (J.M.F.). The CAUSES Clinic is made possible by a C$3 million donation from Mining for Miracles through BC Children’s Hospital Foundation and is supported by Genome British Columbia, the Provincial Health Services Authority, BC Children’s and Women’s Hospitals, the Provincial Medical Genetics Program, BC Children’s Hospital Pathology and Laboratory Medicine, and the University of British Columbia. C.D.M.v.K. is recipient of the Michael Smith Foundation for Health Research Scholar Award and a Stichting Metakids salary stipend.

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Correspondence to Larry D. Lynd PhD.

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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 (2019) doi:10.1038/s41436-019-0635-6

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

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