Article Title

A Real-World Approach to a Value-Based Decision-Making Framework for Genetic Testing

Publication Date



decision-making, personalized genomic medicine


Background/Aims: Relatively few genetic tests have been formally evaluated for cost-effectiveness, and many lack widely accepted evidence of clinical utility. Pragmatic approaches are needed to support real-world, value-based decision-making for genomic-based screening and treatment strategies, including patient selection criteria to identify those with greater potential to benefit. The lack of evidentiary standards for clinical implementation as well as evidence gaps are barriers to decision-making for implementation and reimbursement. Value-improving technology impacts clinical decisions by improving patient care without a disproportionate increase in overall costs. Available knowledge about genomic testing and potential concerns can be integrated and applied using a process to assess value for patient care. The objective of this research is to develop a decision-making framework to support implementation of value-improving technology. Satisfying this objective should avoid premature use of tests that provide little benefit or pose significant health risks compared to usual care.

Methods: Multicriteria decision analysis (MCDA) provides structure and transparency in evaluating options by considering the relative importance of different criteria using a weighting scheme and information on each option’s performance. The results of the review of health care MCDA methods are synthesized and applied to systematically identify and structure elements of value. We then integrate and evaluate clinical, epidemiological and economic evidence to assess the value of genetic and pharmacogenomic testing to support real-world decision-making.

Results: A model with relative weighting for all elements of measured value is developed and applied to facilitate aggregating measures to support real-world decision-making. Current knowledge about genetic and pharmacogenomic testing is integrated and applied to move from the concept of value to making a decision. This is done by measuring and gathering evidence on each of the elements and aggregating the combined elements, with uncertainty of an outcome treated as an element of value.

Discussion: Assuming a continuing shortage of formal and direct evidence for genetic testing, transparent consideration of available, including indirect, evidence can be used to assess whether outcomes relative to cost are likely to offer sufficient value in a comprehensible and actionable decision-making framework. This framework offers the potential to reduce barriers to widespread implementation.