Table 1.

Types of test, clinical questions and examples

TestsClinical questionExamples
Test for disease-susceptibilityWhat is the risk of developing a disease in the future?People who have a deleterious mutation in the genes BRCA1 or 2 are at risk of developing breast and ovarian cancer
Prognostic testWhat is the patient’s prognosis?The MammaPrint is a genomic test that analyzes gene activity in tumor tissue. It supports the decision for post-surgery treatment
TriageDoes the person have the disease?Individuals who have a family history of heterozygotic hypercholesteremia should adopt healthy lifestyle and habits
Complementary diagnostic test – effectivenessWhat is the recommended treatment? Will the patient respond well/badly to the given treatment?Only individuals with breast cancer who have super-expression of HER2 respond to Trastuzumab monoclonal antibody treatment. This represents 15 to 20% of individuals
Complementary diagnostic test – safetyWill there be adverse reactions to the medicine?Carbamazepine is an oral medicine used to treat epilepsy and bipolar disorder among others. People who carry the HLA-B*1502 marker have a high probability of having bleeding and skin problems
Monitoring testsShould treatment continue, change or stop? Is other treatment necessary?Warfarin is a member of a group of anticoagulants used in the prevention of thrombosis. The maintenance of the therapy depends on the CYP2C9 and VKORC1 genotypes
Monitoring and response to treatmentHow long should the individual take to respond to treatment?The deadline for treatment of hepatitis C with PEG interferon alpha and ribavirin depends on the viral RNA level
Source: Based on Redekop and Mladsi (2013) 

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