Table 1.

Category choices for select fields with medical importance—purpose of the test

Category choice	Definition
Diagnosis	Identification or confirmation of disease
Drug response	Evaluation of sequence variation influencing an individual’s reaction to specific medications, as in a pharmacogenetic test. Excludes immune-mediated adverse drug reactions (dose-independent drug allergies).
Monitoring	Periodic or continuous evaluation of a disease or condition over time, including a patient’s response to medical treatment.
Mutation confirmation	Re-evaluation of a genetic test result to assess the validity of the initial result. For example, research test results or results from another laboratory.
Pre-implantation genetic diagnosis	Genetic testing performed on a small number of cells from a human embryo before uterine implantation as part of assisted reproduction procedures.
Pre-symptomatic	Genetic analysis of an asymptomatic or unaffected individual who is at risk of a specific genetic disorder.
Risk assessment	Evaluation of the likelihood of developing a specific condition based on genetic risk. Includes carrier testing in affected families.
Screening	Evaluation of a target population to identify a subgroup affected by a genetic condition or that have the potential to transmit the trait to their offspring. Includes newborn screening, ethnicity-based screening and pre-conceptual genetic testing.