When there is a family history of a genetic condition
If one or more family members have a health condition that was caused by a specific genetic change, it can be beneficial to know if other family members have the same genetic change.
Knowing about this genetic change may allow preventive strategies to be put into place, such as lifestyle changes, regular screening, or surgery.
These strategies may reduce the risk that the condition will develop or allow the condition to be detected and treated early.
When a health condition is thought to be genetic
To find out if a health problem has a genetic cause, we will:
- Look at the person’s signs and symptoms
- Ask about their medical history
- Take a family history
- Perform a detailed physical examination.
If we suspect that a genetic condition may be the cause of the health problems, we will then recommend and arrange genetic testing. Once the results are returned, we will interpret and explain the results. If a genetic diagnosis is found, we will provide a referral to a suitable specialist or provide guidance to the person’s general practitioner (GP) on managing the condition.