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 |
| Â | 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 |
| Â | 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) |