Genome sequencing: a systematic review of health economic evidence
Open Access
- 12 December 2013
- journal article
- review article
- Published by Springer Science and Business Media LLC in Health Economics Review
- Vol. 3 (1), 29
- https://doi.org/10.1186/2191-1991-3-29
Abstract
Recently the sequencing of the human genome has become a major biological and clinical research field. However, the public health impact of this new technology with focus on the financial effect is not yet to be foreseen. To provide an overview of the current health economic evidence for genome sequencing, we conducted a thorough systematic review of the literature from 17 databases. In addition, we conducted a hand search. Starting with 5 520 records we ultimately included five full-text publications and one internet source, all focused on cost calculations. The results were very heterogeneous and, therefore, difficult to compare. Furthermore, because the methodology of the publications was quite poor, the reliability and validity of the results were questionable. The real costs for the whole sequencing workflow, including data management and analysis, remain unknown. Overall, our review indicates that the current health economic evidence for genome sequencing is quite poor. Therefore, we listed aspects that needed to be considered when conducting health economic analyses of genome sequencing. Thereby, specifics regarding the overall aim, technology, population, indication, comparator, alternatives after sequencing, outcomes, probabilities, and costs with respect to genome sequencing are discussed. For further research, at the outset, a comprehensive cost calculation of genome sequencing is needed, because all further health economic studies rely on valid cost data. The results will serve as an input parameter for budget-impact analyses or cost-effectiveness analyses.Keywords
This publication has 24 references indexed in Scilit:
- Managing incidental findings and research results in genomic research involving biobanks and archived data setsGenetics in Medicine, 2012
- Sequencing technologies and genome sequencingJournal of Applied Genetics, 2011
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- Massively Parallel Sequencing: The Next Big Thing in Genetic MedicineAmerican Journal of Human Genetics, 2009
- Massively parallel exon capture and library-free resequencing across 16 genomesNature Methods, 2009
- Next-generation DNA sequencingNature Biotechnology, 2008
- Next-Generation Sequencing: The Race Is OnCell, 2008
- Managing Incidental Findings in Human Subjects Research: Analysis and RecommendationsJournal of Law, Medicine & Ethics, 2008
- A vision for the future of genomics researchNature, 2003
- Initial sequencing and analysis of the human genomeNature, 2001