Determining accurate costs for genomic sequencing technologies—a necessary prerequisite

Abstract

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.

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Acknowledgments

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.

Funding

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.

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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.

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Correspondence to Wendy J. Ungar.

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

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Jegathisawaran, J., Tsiplova, K., Hayeems, R. et al. Determining accurate costs for genomic sequencing technologies—a necessary prerequisite. J Community Genet 11, 235–238 (2020). https://doi.org/10.1007/s12687-019-00442-7

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Keywords

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