Determining the utility of diagnostic genomics: a conceptual framework

Area of Science:

• Genomics
• Health Services Research

Background:

• Diagnostic genomic testing is established for rare diseases.
• Assessing the broader utility of genomic testing is a critical next step.
• Current conceptualization and measurement of utility are ambiguous, hindering comprehensive assessment.

Purpose of the Study:

• To propose a conceptual framework for determining the broader utility of diagnostic genomics.
• To encompass diverse stakeholders including patients, families, clinicians, and health systems.
• To aid future evidence generation and funding decisions for genomic diagnostics.

Main Methods:

• Development of a conceptual framework for genomic utility.
• The framework defines utility across three dimensions: domain (what), relationship/perspective (who), and time horizon (when).
• Proposes triangulation of individual utility points to infer aggregate utility.

Main Results:

• A novel ontological framework for assessing genomic utility is presented.
• The framework allows for a multi-dimensional analysis of utility.
• Individual utility points can be aggregated to understand overall impact.

Conclusions:

• The proposed framework requires validation through retrospective and prospective application.
• This framework aims to improve the characterization and description of genomic utility.
• Informing decision-making and optimizing benefits of genomic diagnostic testing.