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.