Genetic testing and genetic screening are related but distinct approaches to identifying genetic variations and potential health risks.
Genetic testing is focused on individuals. It is used to diagnose specific conditions in people who show symptoms; to confirm or rule out suspected genetic disorders; to determine an individual’s risk of develop certain diseases; and to identify carriers of genetic mutations the could be passed to offspring. It is targeted, examining specific genes or sets of genes in detail.
Genetic screening detects population-wide genetic variations to assess broad-based risks. It is also used in individuals, but for a different purpose than genetic testing. For example, newborns are screened for multiple possible genetic disorders, whereas children with symptoms of cystic fibrosis undergo genetic testing for that specific disease. Screening tests are less specific than diagnostic genetic tests and may have higher rates of false positives or false negatives.
In summary, here are some key differences between screening and testing:
Purpose: Testing is used for diagnosis or risk assessment in individuals, while screening evaluates risk in populations.
Specificity: Genetic testing is more targeted and specific, while screening casts a wider net.
Accuracy: Diagnostic genetic tests are generally more accurate than screening tests.
Follow-up: Positive screening results often require follow-up diagnostic testing for confirmation.
Target group: Testing is typically done on individuals with symptoms or known risk factors, while screening may be applied to broader populations.
Timing: Screening is often done before symptoms appear, while testing may be done at any time.
