MSAC evaluation framework for genetic and genomic tests (value-of-knowing / personal utility)
This framework helps assess the value of genetic and genomic tests in Australia by considering not just clinical benefits but also personal and societal impacts, such as how knowing genetic information affects patients and families even if it doesn't change medical treatment.
At a glance
Use when
Assessing the value of genetic or genomic tests where personal utility, reproductive decision-making, or familial implications are important, especially in publicly funded health systems.
Avoid when
When only traditional clinical and economic outcomes are required, or when rapid, quantitative decision-making without patient and social context is preferred.
Inputs
Evidence on clinical outcomes, patient and family experiences, qualitative data on preferences, test performance characteristics, and health system implications.
Outputs
Structured assessment of clinical and personal utility, informed recommendations for public reimbursement of genetic and genomic tests.
How it works
Developed by the Medical Services Advisory Committee (MSAC), the framework includes the Clinical Utility Card (CUC) Proforma introduced in 2016 to guide health technology assessments of genetic testing for heritable conditions. It addresses methodological challenges in capturing patient and societal preferences, co-produced utility, and qualitative aspects of patient needs. The framework supports evaluation of diverse genomic tests, including gene panels and whole-exome sequencing, across various clinical purposes such as diagnosis, risk assessment, and carrier screening.
- HTA domains
- Clinical Effectiveness, Patient and Social Aspects, Aspects Beyond HTA
- Assumptions
- Patients and families derive value from genetic information independent of therapeutic interventions; qualitative evidence meaningfully informs HTA decisions; equitable access can be balanced with clinical need.
- Strengths
- Incorporates patient-centered outcomes and personal utility; structured tool (CUC Proforma) enhances consistency; addresses broader societal and ethical considerations in genomic testing.
- Limitations
- Relies on qualitative and subjective inputs that may be difficult to standardize; challenges in defining evidence thresholds for non-clinical benefits; implementation across diverse health settings may vary.
- Also known as
- MSAC CUC Proforma, Clinical Utility Card Proforma, MSAC genomic test evaluation framework
Questions this answers
- › What is the clinical utility of a genetic or genomic test for heritable conditions?
- › How do patients and families value the information gained from genetic testing, even without direct treatment implications?
- › How can patient and community preferences be integrated into HTA decisions for genomic technologies?
- › How is utility co-produced between patients, families, and clinicians in genomic testing?
- › What role do non-health outcomes (e.g., personal utility, reproductive decision-making) play in the value of genetic testing?
- › How can equitable access to genomic testing be ensured across diverse and geographically dispersed populations?
References & sources
Similar by meaning
Beta record. Generated from the primary source via AI extraction and independent audit, pending final human review.