Alison Yeung1,2,3, Natalie B Tan4, Tiong Y Tan4,5,6, Zornitza Stark4,5,6, Natasha Brown4,6, Matthew F Hunter7,8, Martin Delatycki4,6, Chloe Stutterd4,6, Ravi Savarirayan4,6, George Mcgillivray4, Rachel Stapleton4, Smitha Kumble4, Lilian Downie4,6, Matthew Regan7,8, Sebastian Lunke4, Belinda Chong4, Dean Phelan4, Gemma R Brett4,5,6, Anna Jarmolowicz4,5, Yael Prawer5,7,8, Giulia Valente5,9, Yana Smagarinsky4,5, Melissa Martyn5,6,10, Callum McEwan5, Ilias Goranitis10,11,12, Clara Gaff5,6,10, Susan M White4,5,6. 1. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. alison.yeung@vcgs.org.au. 2. Melbourne Genomics Health Alliance, Melbourne, Australia. alison.yeung@vcgs.org.au. 3. Department of Pediatrics, University of Melbourne, Melbourne, Australia. alison.yeung@vcgs.org.au. 4. Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia. 5. Melbourne Genomics Health Alliance, Melbourne, Australia. 6. Department of Pediatrics, University of Melbourne, Melbourne, Australia. 7. Monash Genetics, Monash Health, Melbourne, Australia. 8. Department of Pediatrics, Monash University, Melbourne, Australia. 9. Genetics in the North East, Austin Health, Melbourne, Australia. 10. Murdoch Children's Research Institute, Melbourne, Australia. 11. Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Australia. 12. Australian Genomics Health Alliance, Melbourne, Australia.
Abstract
PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort. METHODS: Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013. RESULTS: GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (p = 0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs. CONCLUSION: GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.
PURPOSE: Cost-effectiveness evaluations of first-line genomic sequencing (GS) in the diagnosis of children with genetic conditions are limited by the lack of well-defined comparative cohorts. We sought to evaluate the cost-effectiveness of early GS in pediatric patients with complex monogenic conditions compared with a matched historical cohort. METHODS: Data, including investigation costs, were collected in a prospective cohort of 92 pediatric patients undergoing singleton GS over an 18-month period (2016-2017) with two of the following: a condition with high mortality, multisystem disease involving three or more organs, or severe limitation of daily function. Comparative data were collected in a matched historical cohort who underwent traditional investigations in the years 2012-2013. RESULTS: GS yielded a diagnosis in 42% while traditional investigations yielded a diagnosis in 23% (p = 0.003). A change in management was experienced by 74% of patients diagnosed following GS, compared with 32% diagnosed following traditional investigations. Singleton GS at a cost of AU$3100 resulted in a mean saving per person of AU$3602 (95% confidence interval [CI] AU$2520-4685). Cost savings occurred across all investigation subtypes and were only minimally offset by clinical management costs. CONCLUSION: GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches.
Authors: David Bick; Pamela C Fraser; Michael F Gutzeit; Jeremy M Harris; Tina M Hambuch; Daniel C Helbling; Howard J Jacob; Juliet N Kersten; Steven R Leuthner; Thomas May; Paula E North; Sasha Z Prisco; Bryce A Schuler; Mary Shimoyama; Kimberly A Strong; Scott K Van Why; Regan Veith; James Verbsky; Arthur M Weborg; Brandon M Wilk; Rodney E Willoughby; Elizabeth A Worthey; David P Dimmock Journal: J Pediatr Genet Date: 2016-11-28
Authors: Rani Sachdev; Mike Field; Gareth S Baynam; John Beilby; Maria Berarducci; Yemima Berman; Tiffany Boughtwood; Marie B Cusack; Vanessa Fitzgerald; Jeffery Fletcher; Mary-Louise Freckmann; Natalie Grainger; Edwin Kirk; Ben Lundie; Sebastian Lunke; Lesley McGregor; David Mowat; Gayathri Parasivam; Vanessa Tyrell; Mathew Wallis; Susan M White; Alan S L Ma Journal: J Paediatr Child Health Date: 2021-02-10 Impact factor: 1.954
Authors: Kushani Jayasinghe; You Wu; Zornitza Stark; Peter G Kerr; Andrew J Mallett; Clara Gaff; Melissa Martyn; Ilias Goranitis; Catherine Quinlan Journal: Kidney Int Rep Date: 2021-09-08