Table 1 Relevant issues for implementation of genetic tests under the ACCE framework[38]
ACCE element | Primary considerations | Example questions |
|---|---|---|
Analytic Validity | Test reliability/precision. | Are test results reliable within and across laboratory settings? |
Clinical Validity | Genotype-phenotype associations; test sensitivity/specificity and positive/negative predictive value in relation to clinical outcomes; population differences; environmental modifiers. | Do clinically relevant outcomes of pharmacotherapy vary based on genotype in prospective analyses? Do these findings replicate across populations or clinical settings? |
Clinical Utility | Net cost-benefit profile of testing. Considerations include the usefulness of the test for clinical decisions; any impact of the testing process on patient care; financial costs of testing; economic consequences of health care decisions resulting from testing; facility, personal, and educational requirements associated with testing; informed consent requirements; and clinical risks associated with testing. | What are the net benefits or harms of testing? In which treatment settings are genetic tests feasible or acceptable? Are effective treatment alternatives available under various test result scenarios? How are pharmacogenetic tests best implemented in the clinic? Does genetic testing itself influence patient or provider behaviors? |
Ethical, Legal, and Social Implications | Privacy issues; potential for stigmatization; legal and reporting issues; safeguards to protect against legal or ethical infringements. | Could implementation lead to inequities (e.g., racial group disparities in treatment access)? Would test results potentially disclose sensitive information about other health outcomes? |