Methodological Issues in Assessing the Economic Value of Next-Generation Sequencing Tests: Many Challenges and Not Enough Solutions

Abstract

Background Clinical use of next-generation sequencing (NGS) tests has been increasing, but few studies have examined their economic value. Several studies have noted that there are methodological challenges to conducting economic evaluations of NGS tests. Objective Our objective was to examine key methodological challenges for conducting economic evaluations of NGS tests, prioritize these challenges for future research, and identify how studies have attempted solutions to address these challenges. Methods We identified challenges for economic evaluations of NGS tests using prior literature and expert judgment of the co-authors. We used a modified Delphi assessment to prioritize challenges, based on importance and probability of resolution. Using a structured literature review and article extraction we then assessed whether published economic evaluations had addressed these challenges. Results We identified 11 challenges for conducting economic evaluations of NGS tests. The experts identified three challenges as the top priorities for future research: complex model structure, timeframe, and type of analysis and comparators used. Of the 15 published studies included in our literature review, four studies described specific solutions relevant to five of the 11 identified challenges. Conclusions Major methodological challenges to economic evaluations of NGS tests remain to be addressed. Our results can be used to guide future research and inform decision-makers on how to prioritize research on the economic assessment of NGS tests

Next-Generation Sequencing in Clinical Practice: Is It a Cost-Saving Alternative to a Single-Gene Testing Approach?

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The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments

“…A key methodological issue when assessing the value of genomics is the lack of evidence for the personal utility that they generate. 5 As a result, nonhealth and process-related outcomes of genomics are rarely considered in health-care decision-making, 6 which is likely to bias resource allocation decisions. 7 There is real need to better understand individual preferences for GS to (1) value the personal utility benefits generated, (2) predict uptake, and (3) inform health-care priorities based on a composite evaluation of costs and benefits.…”

Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review

“…While many have argued that medical management implications constitute health-related outcomes and fit within the construct of clinical utility, others consider medical management as an example of an indirect or intermediate non-health related outcome, since a medical management decision, unto itself, does not comprise a health outcome [ 12 , 13 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 ]. While the distinction between health and non-health related outcomes remains important to the task of defining and adjudicating the value of genetic testing [ 67 , 68 , 69 ], it is plausible that both health and non-health related outcomes can be perceived and experienced from both clinical and personal perspectives. There is justification for medical management implications, as an impact of genetic testing that sits at the boundary of health and non-health related outcomes, to be included in both personal and clinical utility constructs.…”