TY - JOUR
T1 - The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
AU - CAUSES Study
AU - Dragojlovic, Nick
AU - van Karnebeek, Clara D. M.
AU - Ghani, Aisha
AU - Genereaux, Dallas
AU - Kim, Ellen
AU - Birch, Patricia
AU - Adam, Shelin
AU - Dragojlovic, Nick
AU - du Souich, Christèle
AU - Elliott, Alison M.
AU - Lehman, Anna
AU - Lynd, Larry
AU - Mwenifumbo, Jill
AU - Nelson, Tanya N.
AU - van Karnebeek, Clara
AU - Friedman, Jan M.
AU - Elliott, Alison M.
AU - Lynd, Larry D.
AU - Dragojlovic, Nick
AU - Adam, Shelin
AU - du Souich, Christèle
AU - Elliott, Alison M.
AU - Lehman, Anna
AU - Lynd, Larry
AU - Mwenifumbo, Jill
AU - Nelson, Tanya N.
AU - van Karnebeek, Clara
AU - Friedman, Jan M.
PY - 2020/2/1
Y1 - 2020/2/1
N2 - 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. Results: 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. Conclusions: 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.
AB - 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. Results: 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. Conclusions: 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.
KW - cost trajectory
KW - diagnostic costs
KW - diagnostic pathway
KW - genetic disorders
KW - genome-wide sequencing
UR - http://www.scopus.com/inward/record.url?scp=85071953089&partnerID=8YFLogxK
U2 - https://doi.org/10.1038/s41436-019-0635-6
DO - https://doi.org/10.1038/s41436-019-0635-6
M3 - Article
C2 - 31462755
SN - 1098-3600
VL - 22
SP - 292
EP - 300
JO - Genetics in medicine
JF - Genetics in medicine
IS - 2
ER -