Using Cost-Effectiveness Analysis to Quantify the Value of Genomic-Based Diagnostic Tests: Recommendations for Practice and Research

Research output: Contribution to journalArticlepeer-review


AIMS: New sequencing technologies allow increased opportunities to use genomic-based diagnostic tests (genomic tests) in routine clinical practice, which will impact healthcare budgets and patients' outcomes. This article aims to generate a list of recommendations on how the principles and methods of cost-effectiveness analysis (CEA) can be used to quantify the costs and benefits of genomic tests.

METHODS: A systematic literature search identified publications describing the use of CEA to evaluate genomic tests. Data were extracted as key concepts to produce a thematic list of previously described challenges and solutions to using CEA to evaluate genomic tests. Defining features of evaluating genomic tests were categorized into a list of key recommendations for applying methods in practice and for research needs.

RESULTS: Features producing challenges in the implementation of CEA to evaluate genomic tests were as follows: the ability of the tests to diagnose multiple disorders; potential consequences for future generations suggesting an infinite time horizon; and the potential need to consider nonhealth benefits.

CONCLUSIONS: CEA was identified as an appropriate evaluative framework for genomic tests, although standard methods may need modification and important method research questions remain. Key recommendations suggest a need for research to reflect: sharing genomic information across generations; genomic tests for multiple disorders; and health and nonhealth benefits.

Original languageEnglish
Pages (from-to)705-716
JournalGenetic testing and molecular biomarkers
Issue number12
Early online date13 Oct 2017
Publication statusPublished - 1 Dec 2017

Bibliographical note

©2017 Mary Ann Liebert, Inc. publishers. This is an author-produced version of the published paper. Uploaded in accordance with the publisher’s self-archiving policy. Further copying may not be permitted; contact the publisher for details.


  • Journal Article

Cite this