Many cardiac conditions may be caused by genetic alterations. These are generally inherited, meaning the alteration is passed from parent to child through genes.
Why do I need a genetic test?
You may be offered a genetic test by your consultant to help with your care. It can help to diagnose your condition and may also direct further treatment. If we find a genetic cause for your condition this may also help diagnose or identify other family members who are at risk.
You might be referred to a clinical geneticist, a genetic counsellor or specialist nurse. They are medical specialists who focus on the cause, course, diagnosis and treatment of genetic and part-genetic disorders.
Genetic testing at the Trust is performed in the Clinical Genetics and Genomics Laboratory.
What is genetic testing?
Genetic testing allows us to study your DNA (the molecule that encodes genetic information) and look for alterations (known as genetic variants) which may be causing your cardiac condition. Testing involves looking at specific genes which have been associated with cardiac conditions.
Find out more about the genetics and genomics laboratory at Royal Brompton Hospital.
See a glossary of genetics terms (pdf, 78.4KB).
If a genetic alteration has been found in a family member who has a cardiac condition you may be offered a genetic test. The test will look for the alteration in you, to find out if you are likely to develop the same condition.
This information can help doctors to decide:
- if you should receive treatment
- if you should be monitored more closely
- if you can be discharged from follow up.
If you are having a genetic test, the procedure and implications of the test will be explained to you by a doctor, geneticist or clinical nurse specialist at a consultant clinic appointment.
You will also be asked to sign a consent form. Blood will then be taken and sent to the lab for testing. If your child is having a genetic test, you will be asked to sign a consent form.
Your results will only be available through your consultant. They will explain the result and any possible implications for yourself and your family.
Sometimes we find alterations which we think are responsible for disease, because there is sufficient evidence available. However, we may also find a new alteration about which we do not yet have enough information to know whether it is responsible for your disease or not.
Testing of other members of your family may help us to determine if the variant is responsible for your disease.
There is still a lot that we don’t know about the genetics of cardiac conditions so we may not be able to identify a genetic cause of your disease. However, there is a lot of research being done at the moment and which means that in the future we may be able to re-test you and find a cause.
If we do not find a cause for your cardiac condition you may be interested in taking part in the Genomics England 100,000 genomes project. The project aims to sequence 100,000 genomes from around 70,000 NHS patients with rare diseases or cancer and their close relatives.
Familial Hypercholesterolaemia is an inherited genetic disorder that can cause early heart disease and can lead to premature death.
The Trust has an inherited cardiovascular condition service, which looks after conditions such as cardiomyopathy, channelopathy and pulmonary hypertension.
Clinical genetics and genomics laboratory
Ground floor (level 2), Sydney wing, Royal Brompton Hospital, Sydney Street, London, SW3 6NP
Monday to Friday 9am to 5pm
Head of laboratory
Dr Deborah Morris-Rosendahl