Other
Genetic Testing
Genetic testing analyses your DNA to look for changes linked to inherited conditions or disease risk. It is used in diagnosis, family planning and guiding some treatments.
Quick answer
Genetic Testing: what it is and what the results mean
Genetic testing examines genes or chromosomes, usually from a blood or saliva sample, to look for changes (variants) associated with inherited conditions, disease risk, or how someone may respond to certain treatments.
- Why it is done: It is used to diagnose or confirm inherited conditions, to assess risk in people with a strong family history, to inform decisions in pregnancy, and increasingly to guide treatment, for example in some cancers.
- Understanding results: Results may confirm a diagnosis, indicate an increased risk, or be uncertain.
What it is
Genetic testing examines genes or chromosomes, usually from a blood or saliva sample, to look for changes (variants) associated with inherited conditions, disease risk, or how someone may respond to certain treatments.
Why it is done
It is used to diagnose or confirm inherited conditions, to assess risk in people with a strong family history, to inform decisions in pregnancy, and increasingly to guide treatment, for example in some cancers.
What to expect
A sample of blood or saliva is usually taken. Because results can have significant personal and family implications, testing is often accompanied by genetic counselling before and after to explain what the results may mean.
Understanding the results
Results may confirm a diagnosis, indicate an increased risk, or be uncertain. A change found does not always mean disease will develop, and results can affect relatives, which is why expert interpretation and counselling are important.
Good to know
Risks and limitations
The physical test is very safe. The main considerations are emotional and practical — results can be complex or uncertain and may have implications for family members, so counselling is offered to help understand them.
Education and reference only. This explains the test in general terms and is not medical advice. Always follow the specific instructions from the team arranging your test, and discuss your results with your clinician.
Answers
Genetic Testing: frequently asked questions
What can genetic testing tell me?
It can confirm or diagnose inherited conditions, show an increased risk of some diseases, and sometimes guide treatment. Results are not always clear-cut, and a genetic change does not always mean disease will occur.
Does genetic testing affect my family?
It can. Because genes are shared, a result may have implications for relatives. Genetic counselling helps you understand the findings and think through what they mean for you and your family.
Related tests
Other other investigations
Sources
Where this is drawn from
- NHS — Tests and treatments
- NICE — diagnostic guidance
- Relevant royal college / professional body
Building patient-education content for tests or procedures?
We create clear, accurate, referenced medical explainers and decision aids for teams.