Table 1.
Contributors to clinical utility
| Component | Definition | Relevance to clinical utility |
|---|---|---|
| Analytic validity | Accuracy of test assay compared to gold standard measure | Determines whether test meets acceptable analytic standard |
| Clinical validity | Association of genetic characteristic with specified health condition or risk, and sensitivity, specificity and predictive value in the population groups and clinical setting proposed for testing | Determines potential clinical uses of test |
| Test setting and purpose | Clinical and/or demographic description of group(s) to be offered testing, health condition tested for, and specific clinical goal of testing, including any associated services | Determines outcomes sought from testing |
| Societal legitimacy | Consistency of testing and associated services with ethical principles, values, norms, mores, laws and regulations | Determines whether test is compatible with societal expectations |
| Efficacy and effectiveness | The ability of the test and any associated services to achieve the intended health purpose under the most favorable circumstances (efficacy) and under routine conditions (effectiveness) | Determines the potential for the test to achieve the health outcomes sought |
| Balance of outcomes | Assessment of negative relative to positive outcomes of testing and associated services for the person tested | Determines whether testing provides a net benefit to the person tested |
| Patient and family acceptability | Consistency of testing and associated services with the wishes, desires, and expectations of patients and their families | Determines whether testing is compatible with patient and family preferences |
| Economic measures | The ability of the test and associated services to lower the costs of care without diminishing benefits and/or provide an appropriate health value for the investment of resources | Determines benefits provided by testing relative to investment of resources |
| Equity | Access to test and associated services among patients who can benefit | Determines whether testing is compatible with equitable health care delivery |