A review of economic evaluations of genetic testing services and interventions (2004-2009)

Sandjar Djalalov, Zahra Musa, Michael Mendelson, Katherine Siminovitch, Jeffrey S Hoch

Research output: Contribution to journalReview articlepeer-review

23 Scopus citations


To review economic evaluations of genetic interventions published between 2004 and 2009 and assess the quality of the identified studies, we searched for economic evaluations of genetic testing and interventions published between 2004 and 2009. Studies that met inclusion criteria were reviewed and their quality then assessed using a validated instrument-the Quality of Health Economic Studies. Of 54 articles identified, 26 met study criteria and were included in the review. These studies span a number of clinical indications, genetic tests, and interventions, but the majority (92%) focuses on genetic interventions for preventive screening and increasing treatment efficacy. The mean quality score for the reviewed studies was 89.8. Comparison of the quality of different study types revealed that cost-utility studies and studies that used a combined decision tree and Markov model had the highest mean quality scores. Clear statements regarding bias, funding source, and study perspective were commonly lacking in the reviewed studies. Although the reviewed studies were of fairly high quality, we found Quality of Health Economic Studies methodology for grading the quality of economic evaluations challenging and observed no statistically significant improvement in quality of studies between the periods of 1995-2004 and 2004-2009.

Original languageEnglish (US)
Pages (from-to)89-94
Number of pages6
JournalGenetics in Medicine
Issue number2
StatePublished - Feb 2011
Externally publishedYes


  • cost-effectiveness analysis
  • economic evaluation
  • genetic testing
  • personalized medicine
  • quality assessment

ASJC Scopus subject areas

  • Genetics(clinical)


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