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Economic evaluations of predictive genetic testing: A scoping review.

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Jin, Shihan 
Morris, Stephen 


Predictive genetic testing can provide information about whether or not someone will develop or is likely to develop a specific condition at a later stage in life. Economic evaluation can assess the value of money for such testing. Studies on the economic evaluation of predictive genetic testing have been carried out in a variety of settings, and this research aims to conduct a scoping review of findings from these studies. We searched the PubMed, Web of Science, Embase, and Cochrane databases with combined search terms, from 2019 to 2022. Relevant studies from 2013 to 2019 in a previous systematic review were also included. The study followed the recommended stages for undertaking a scoping review. A total of 53 studies were included, including 33 studies from the previous review and 20 studies from the search of databases. A significant number of studies focused on the US, UK, and Australia (34%, 23%, and 11%). The most frequently included health conditions were cancer and cardiovascular diseases (68% and 19%). Over half of the studies compared predictive genetic testing with no genetic testing, and the majority of them concluded that at least some type of genetic testing was cost-effective compared to no testing (94%). Some studies stated that predictive genetic testing is becoming more cost-effective with the trend of lowering genetic testing costs. Studies on predictive genetic testing covered various health conditions, particularly cancer and cardiovascular diseases. Most studies indicated that predictive genetic testing is cost-effective compared to no testing.



Humans, Cost-Benefit Analysis, Cardiovascular Diseases, Australia, Genetic Testing

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PLoS One

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Public Library of Science (PLoS)