Determining accurate costs for genomic sequencing technologies—a necessary prerequisite

  • Jathishinie Jegathisawaran
  • Kate Tsiplova
  • Robin Hayeems
  • Wendy J. UngarEmail author
Short Communication


Genome sequencing (GS) is increasingly being translated into clinical practice and is a technology characterized by a complex multi-step workflow. Funding decisions for GS would be aided by formal economic evaluation of GS platforms, but these analyses require detailed costing. This article addresses the importance of and challenges associated with costing GS using a GS microcosting project in autism spectrum disorder as an illustrative example.


Genome sequencing Chromosomal microarray Health technology assessment Economic evaluation Microcosting Autism spectrum disorder 



We wish to thank the following individuals for their contributions: Christian R. Marshall, PhD, Associate Director, Genome Diagnostics, Department of Paediatric Laboratory Medicine, Dimitri J. Stavropoulos, PhD, Co-Director, Cytogenetics, Department of Paediatric Laboratory Medicine, Sergio L. Pereira, PhD, Research Core Manager, The Centre for Applied Genomics, Program in Genetics and Genome Biology, Bhooma Thiruvahindrapuram, MSc, Facility Manger, Scientific Lead, The Centre for Applied Genomics and Stephanie Luca, MA, PMP, Clinical Research Project Coordinator.

Author contributions

Wendy J. Ungar contributed to the study conceptualization and funding acquisition. The first draft of the manuscript was written by Jathishinie Jegathisawaran and all authors reviewed and edited versions of the manuscript. All authors read and approved the final manuscript.

Funding information

The research related to the manuscript was supported by a Large-Scale Applied Research Project grant from Genome Canada and the Ontario Genomics Institute and a grant-in-aid from the SickKids Centre for Genetic Medicine. Wendy J. Ungar is supported by a Canada Research Chair in Economic Evaluation and Technology Assessment in Child Health.

Compliance with ethical standards

The authors declare that they have no conflict of interest.

This article does not contain any studies with human or animal subjects performed by the any of the authors.


  1. Buchanan J, Wordsworth S, Schuh A (2013) Issues surrounding the health economic evaluation of genomic technologies. Phamacogenomics 14:1833–1847. CrossRefGoogle Scholar
  2. CADTH (2017) Guidelines for the economic evaluation of health technologies: Canada. 4th ed. CADTH, OttawaGoogle Scholar
  3. Jani M, Gavan S, Chinoy H, Dixon WG, Barton A, Harrison B, Moran A, Barton A, Payne K (2016) A microcosting study of immunogenicity and tumour necrosis factor alpha inhibitor drug level tests for therapeutic drug monitoring in clinical practice. Rheumatology 55:2131–2137. CrossRefPubMedGoogle Scholar
  4. Jegathisawaran J, Tsiplova K, Marshall CR, Stavropoulos DJ, Pereira S, Thiruvahindrapuram, B, Ungar WJ (2018) A microcosting and cost-consequence analysis of genomic testing strategies (including trios) in austim spectrum disorder: an update. Accessed 14 Feb 2019
  5. Phillips KA, Pletcher MJ, Ladabaum U (2015) Is the “$1000 genome” really $1000? Understanding the full benefits and costs of genomic sequencing. Technol Health Care 23:373–379. CrossRefPubMedPubMedCentralGoogle Scholar
  6. Schwarze K, Buchanan J, Taylor JC, Wordsworth S (2018) Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 20:1122–1130. CrossRefPubMedGoogle Scholar
  7. Tsiplova K, Zur RM, Ungar WJ, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW (2016) A microcosting and cost-consequence analysis of genomic testing strategies in autism spectrum disorder. Accessed 18 May 2016
  8. Tsiplova K, Zur RM, Marshall CR, Stavropoulos DJ, Pereira SL, Merico D, Young EJ, Sung WWL, Scherer SW, Ungar WJ (2017) A microcosting and cost–consequence analysis of clinical genomic testing strategies in autism spectrum disorder. Genet Med 19:1268–1275. CrossRefPubMedGoogle Scholar
  9. Weymann D, Dragojlovic N, Pollard S, Regier DA (2019) Allocating healthcare resources to genomic testing in Canada: latest evidence and current challenges. J Community Genet:1–10.

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Child Health Evaluative SciencesThe Hospital for Sick Children, Peter Gilgan Centre for Research and LearningTorontoCanada
  2. 2.Institute of Health Policy, Management and EvaluationUniversity of TorontoTorontoCanada

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