A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale
Goranitis, Ilias, Sheen, Daniel, Fehlberg, Zoe, Mallett, Andrew J., Best, Stephanie, and Stark, Zornitza (2025) A Standardized Measurement and Valuation Scale of Genomic Utility for Policy Decisions: The GUV Scale. Value in Health, 28 (2). pp. 184-190.
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Abstract
Objectives: The multifaceted ways in which genomics can be valuable to clinicians, patients, families, and society are important for informing prioritization decisions by policy makers. This study aims to develop a standardized, cumulative, and preference-weighted genomic utility valuation (GUV) on a scale of 0% to 100%. Methods: A multicriteria decision analysis was conducted with experts involved in policy, clinical, research, and consumer advocacy leadership in Australia for the valuation of policy priority indicators of genomic utility. The use of the GUV scale to support policy decisions is illustrated through a stylized example, and benchmark scoring thresholds of genomic utility were identified by mapping evidence from real-world health technology assessments leading to the public reimbursement of genomic testing in Australia onto the GUV scale. Results: In total, 33 (73%) invited experts participated in the study. Clinical utility had the highest priority, followed by societal, diagnostic, economic, and family utilities. Improving health outcomes had the highest preference value (29.5%), followed by improving equity (22.6%), Having high diagnostic yield (22.2%), improving symptom management (15.5%), being cost saving (14.3%), having average diagnostic yield (13.1%), enabling access to clinical trials (12.3%), and enabling reproductive family planning (11.5%). Genomic testing scores from real-world health technology assessments ranged from 46% for syndromic and nonsyndromic intellectual disability to about 60% for mitochondrial conditions and genetic kidney diseases. Conclusions: Comparisons of genomic utility across different clinical contexts may seem difficult because of the multiple criteria required to be weighted to support policy decisions. This comparison is now facilitated in a standardized manner with the GUV scale.
| Item ID: | 88359 |
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| Item Type: | Article (Research - C1) |
| ISSN: | 1524-4733 |
| Keywords: | genomics, preferences, priorities, rare diseases, utility |
| Copyright Information: | Copyright © 2025, International Society for Pharmacoeconomics and Outcomes Research, Inc. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). |
| Funders: | National Health and Medical Research Council (NHMRC) |
| Projects and Grants: | NHMRC GNT2000001 |
| Date Deposited: | 13 Apr 2026 05:04 |
| FoR Codes: | 31 BIOLOGICAL SCIENCES > 3105 Genetics > 310509 Genomics @ 50% 32 BIOMEDICAL AND CLINICAL SCIENCES > 3205 Medical biochemistry and metabolomics > 320505 Medical biochemistry - nucleic acids @ 50% |
| SEO Codes: | 20 HEALTH > 2001 Clinical health > 200101 Diagnosis of human diseases and conditions @ 100% |
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