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Determining accurate costs for genomic sequencing technologies-a necessary prerequisite
Jathishinie Jegathisawaran1, Kate Tsiplova1, Robin Hayeems1,2
1Child Health Evaluative Sciences, The Hospital for Sick Children, Peter Gilgan Centre for Research and Learning, 11th floor, 686 Bay Street, Toronto, Ontario, M5G 0A4, Canada.
Journal of Community Genetics
|November 16, 2019
Summary
Understanding the cost of genome sequencing (GS) is crucial for its clinical adoption. This study highlights the importance and challenges of detailed GS costing, using autism spectrum disorder as a case example.
Area of Science:
- Genomic Medicine
- Health Economics
Background:
- Genome sequencing (GS) is transitioning into clinical practice.
- GS involves a complex, multi-step workflow.
- Economic evaluations of GS platforms are needed to guide funding decisions.
Purpose of the Study:
- To address the importance of costing for genome sequencing.
- To identify challenges in performing detailed cost analyses for GS.
- To illustrate these concepts using a microcosting project in autism spectrum disorder.
Main Methods:
- Microcosting approach applied to a genome sequencing project.
- Detailed examination of the multi-step GS workflow.
- Analysis focused on autism spectrum disorder.
Main Results:
- Costing GS is essential for economic evaluations.
- Challenges in GS costing include workflow complexity and data collection.
- The autism spectrum disorder project provides a practical example of these issues.
Conclusions:
- Accurate costing is vital for understanding the economic impact of genome sequencing.
- Addressing costing challenges will facilitate the integration of GS into healthcare.
- Microcosting provides a framework for evaluating complex genomic technologies.
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