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Table 1 Multiple clinical roles of genetic tests in clinical practice

From: Evaluating genomic tests from bench to bedside: a practical framework

Type Purpose Definition Examples
Diagnostic Screening Detection or exclusion of a characteristic or disease in asymptomatic persons Fecal DNA to screen for colorectal cancer, SRY genotype to determine fetal sex in first-trimester
  Diagnosis Rule in or rule out conditions in symptomatic persons Lynch syndrome testing in patients with colorectal cancer, CFTR testing in patients with suspected cystic fibrosis, Factor V Leiden or prothrombin gene testing in patients with thromboembolic disease
Prediction Risk assessment Risk of future disease or morbidity from disease in people without the disease Cardiogenomic profile in order to assess risk of future cardiovascular disease, BRCA testing in women at high risk for breast cancer
  Prognosis Predicting outcomes in people with disease Oncotype DX panel to assess prognosis in women with early stage breast cancer, BRCA testing in women with breast cancer
Treatment Treatment selection or monitoring Determine, predict, or monitor response and/or adverse effects of treatment CYP2C19 gene to predict response to clopidigrel in patients with acute coronary syndrome or percutaneous coronary intervention (PCI)