A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders

Johnson, Karl M.; Saylor, Kate; Guynn, Isabella; Hicklin, Karen; Berg, Jonathan S.; Lich, Kristen Hassmiller

doi:10.1016/j.gim.2022.02.017

Cited by 1 publication

(7 citation statements)

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“…The literature search utilized the search terms from previous reviews [ 11 ]. We searched in PubMed, Web of Science, Embase, and Cochrane (See Supporting Information 1 in S1 File ).…”

Section: Methodsmentioning

confidence: 99%

“…We searched in PubMed, Web of Science, Embase, and Cochrane (See Supporting Information 1 in S1 File ). We included studies published after Sep 10, 2019, which were not included in previous literature reviews [ 11 ]. The search was last supplemented on June 11, 2022.…”

Section: Methodsmentioning

confidence: 99%

“…Several systematic and scoping reviews of economic evaluations of genetic screening, testing, and precision medicine have been carried out previously. Early systematic reviews of economic evaluations of genetic testing were undertaken by Carlson et al (2005) 2022) conducted a systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders over the period 2013-2019 [11]. Kasztura et al (2019) conducted a scoping review on the cost-effectiveness of precision medicine [20].…”

Section: Introductionmentioning

confidence: 99%

“…The economic evaluation of predictive genetic testing is critical as genetic testing has become a powerful tool in disease risk prediction and prevention, and is unlikely to be cost-neutral. Economic evaluation is defined as the comparative analysis of alternative courses of action in terms of both their costs and consequences [ 11 , 12 ]. The cost-effectiveness of an intervention is assessed to ensure maximum health gain from limited available resources [ 12 ].…”

Section: Introductionmentioning

confidence: 99%

“…D’Andrea et al (2015) conducted a systematic review of the literature on economic evaluations of genetic testing [ 19 ]. Johnson et al (2022) conducted a systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders over the period 2013–2019 [ 11 ]. Kasztura et al (2019) conducted a scoping review on the cost-effectiveness of precision medicine [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

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Economic evaluations of predictive genetic testing: A scoping review

2023

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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.

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“…The literature search utilized the search terms from previous reviews [ 11 ]. We searched in PubMed, Web of Science, Embase, and Cochrane (See Supporting Information 1 in S1 File ).…”

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%