Nick Dragojlovic1, Clara D M van Karnebeek2,3,4, Aisha Ghani3, Dallas Genereaux5, Ellen Kim1, Patricia Birch5, Alison M Elliott3,5, Jan M Friedman5, Larry D Lynd6,7. 1. Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada. 2. Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. 3. BC Children's Hospital Research Institute, Vancouver, BC, Canada. 4. Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic University Medical Centres, Amsterdam, The Netherlands. 5. Department of Medical Genetics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada. 6. Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada. larry.lynd@ubc.ca. 7. Centre for Health Evaluation and Outcomes Sciences, Providence Health Research Institute, Vancouver, BC, Canada. larry.lynd@ubc.ca.
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. 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.
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.
Authors: Lisa P Spees; Karen Hicklin; Michael C Adams; Laura Farnan; Jeannette T Bensen; Donna B Gilleskie; Jonathan S Berg; Bradford C Powell; Kristen Hassmiller Lich Journal: Genet Med Date: 2022-01-13 Impact factor: 8.864
Authors: Emily A Enns; Tasha Wainstein; Nick Dragojlovic; Nicola Kopac; Larry D Lynd; Alison M Elliott Journal: Mol Genet Genomic Med Date: 2021-09-17 Impact factor: 2.183
Authors: Courtney B Cook; Linlea Armstrong; Cornelius F Boerkoel; Lorne A Clarke; Christèle du Souich; Michelle K Demos; William T Gibson; Harinder Gill; Elena Lopez; Millan S Patel; Kathryn Selby; Ziad Abu-Sharar; Alison M Elliott; Jan M Friedman Journal: Cold Spring Harb Mol Case Stud Date: 2021-12-09
Authors: Samantha Pollard; Deirdre Weymann; Jessica Dunne; Fatemeh Mayanloo; John Buckell; James Buchanan; Sarah Wordsworth; Jan M Friedman; Sylvia Stockler-Ipsiroglu; Nick Dragojlovic; Alison M Elliott; Mark Harrison; Larry D Lynd; Dean A Regier Journal: Eur J Hum Genet Date: 2021-04-26 Impact factor: 4.246