Understanding Genetic Testing
A plain-language guide for patients and families who want to understand what genetic testing can help with, what it cannot promise, and how to think about results.
What is genetic testing?
Genetic testing looks for changes in DNA that may help explain a medical condition, inherited risk, reproductive risk, or family pattern. It supports medical decision-making; it does not replace a physician’s assessment.
When should it be considered?
When symptoms, family history, cancer patterns, pregnancy planning, or a physician referral suggest inherited information may matter.
What can it tell us?
It may identify a genetic cause, inherited risk, carrier status, or a family variant that guides next steps.
What can it not tell us?
It cannot guarantee a diagnosis, predict everything about health, or replace clinical interpretation.
Exome and genome explained simply
What is WES?
Whole Exome Sequencing looks mainly at the protein-coding parts of genes and is often useful when a genetic condition is suspected but the exact gene is unknown.
What is WGS?
Whole Genome Sequencing looks more broadly across DNA and may be considered for complex or unresolved cases.
What results can mean
Negative result
A negative result does not always mean there is no genetic cause. It may mean this test did not find an answer with current knowledge.
Variant of Uncertain Significance (VUS)
A VUS is a genetic change where current evidence is not enough to say whether it causes disease.
Common misconception
One genetic test does not answer everything. The right test depends on the question.