Journal
GENETICS IN MEDICINE
Volume 20, Issue 10, Pages 1122-1130Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/gim.2017.247
Keywords
cost; economic evaluation; outcome; whole-exome sequencing; whole-genome sequencing
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Funding
- UK Health Innovation Challenge Fund
- Wellcome Trust Centre for Human Genetics Wellcome Trust Core Award [090532/Z/09/Z]
- National Institute for Health Research Oxford Biomedical Research Centre
- Erasmus Plus scheme of the University Duisburg-Essen
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Purpose: We conducted a systematic literature review to summarize the current health economic evidence for whole-exome sequencing (WES) and whole-genome sequencing (WGS). Methods: Relevant studies were identified in the EMBASE, MEDLINE, Cochrane Library, EconLit and University of York Centre for Reviews and Dissemination databases from January 2005 to July 2016. Publications were included in the review if they were economic evaluations, cost studies, or outcome studies. Results: Thirty-six studies met our inclusion criteria. These publications investigated the use of WES and WGS in a variety of genetic conditions in clinical practice, the most common being neurological or neurodevelopmental disorders. Study sample size varied from a single child to 2,000 patients. Cost estimates for a single test ranged from $555 to $5,169 for WES and from $1,906 to $24,810 for WGS. Few cost analyses presented data transparently and many publications did not state which components were included in cost estimates. Conclusion: The current health economic evidence base to support the more widespread use of WES and WGS in clinical practice is very limited. Studies that carefully evaluate the costs, effectiveness, and cost-effectiveness of these tests are urgently needed to support their translation into clinical practice.
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