Genetic testing – How it works and who it’s for – British Heart Foundation

Posted: November 30, 2019 at 3:41 am

Why am I having genetic testing?

You may be having genetic testing because:

Some people with an inherited heart conditionwont have any signs or symptoms. Genetic testing can help doctors assess whether you should be monitored or if you should start any treatment.

Inherited conditions which can affect your heart, include:

Youll usually attend a specialist inherited heart conditions clinic before you have genetic testing. While youre there, healthcare professionals will talk to you about your medical and family history.

They may carry out some routine tests to check for signs of an IHC. This is called screening. These tests include:

Depending on the results of your screening, you may then be offered genetic testing. This is a DNA test thats carried out if youre suspected to have a faulty gene which can cause an inherited heart condition. This test may be:

You should only have a genetic test after discussing it with a specialist. This is to make sure youre happy for the test to be done, the right tests take place and the results are interpreted correctly. Your specialist will also be able to support you and answer any questions you have.

Before the genetic test takes place, youll speak to a specialist and may be referred for genetic counselling. This is a chance to ask questions, understand more about the process and decide whether you wish to go ahead with testing. It may involve:

Even if a faulty gene is found, this doesnt always mean youll develop an inherited heart condition. Your doctor will monitor you for any signs of the condition and youll receive treatment if you need it.

In some people its not possible to find the faulty gene. If it cant be found, it doesnt necessarily mean that its not there and you may still be at risk of developing the condition. The specialists will discuss this with you, and they may continue to monitor you, if necessary.

Our Genetic Information Service (GIS) helplinehas qualified cardiac nurses who can provide you with information and support on inherited heart conditions.

Some tests can take months while others may take a few weeks. This is because some genetic faults can take longer to detect than others. Your healthcare professional will tell you when to expect your results.

If youve been diagnosed with an inherited heart condition or if youre found to have a faulty gene which can cause one your specialist will talk to you about close family members who may benefit from testing. The process of rolling out genetic testing through families is called cascade testing.

Any of your children will have a 50:50 (or 1 in 2) chance of inheriting the same faulty gene that you have. However, this doesnt necessarily mean theyll develop the condition.

If a close family member has the gene fault or has been diagnosed with an inherited heart condition, you should be referred to a specialist clinic for an assessment and to discuss having genetic testing.

Close family members, or immediate family, are your parents, siblings or children.

If a genetic test shows you dont have the same gene fault you wont develop the condition. You also cant pass it onto your children.

If you have the same faulty gene but dont have any signs or symptoms of the condition, youll be monitored in case you develop it in the future.

It can be very worrying if you think you may have, or develop an inherited heart condition, and there are lots of questions you might have, such as:

Speak to a specially-trained nurse on our Genetic Information Service (GIS) helpline who can provide you with information and support.

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Genetic testing - How it works and who it's for - British Heart Foundation

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