In 2017, we raised £500,000 to expand Royal Brompton's genetics testing service, in order to help thousands of families affected by inherited heart and lung disease

Genetic testing saves thousands of lives. To help speed up the process of diagnosing potentially fatal inherited heart and lung conditions, the Charity set out to raise £500,000 to expand the service, and invest in technology.

A lot of genetic conditions can be identified through testing. One that many have heard of is cystic fibrosis, which results in the lungs and digestive system becoming clogged with thick, sticky mucus, causing problems with breathing and digestion.

A lesser-known genetic condition is Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). ARVC is a disease that thins and stretches the heart muscle, which results in insufficient blood being pumped around the body. The consequences can be fatal for anyone with a deficit in this gene, and even the fittest people can be affected. In 2012, Former footballer Fabrice Muamba suddenly collapsed during a televised FA Cup game, and was ‘in effect dead’ for 78 minutes. Amazingly, Fabrice survived.

It is estimated that over 64,000 people in the UK have a fault in this gene; roughly one in 1,000. However, as is the case with many other inherited cardiac and respiratory conditions, with early diagnosis through genetic testing, the disease can be successfully treated and managed.

Dr Jan Till, Paediatric Electrophysicist, sees first hand the benefits of being able to test patients for life-threatening genetic disease. 

We help many people with inherited diseases. One young man who springs to mind was diagnosed here as a child with a genetic disease. He had a terrible time and nearly died before he got to us because the condition was not well recognised and is life threatening. He grew up and was married and has recently had his first child. We screened immediately for the gene and we found the baby had the same condition as his father. We started the baby on treatment immediately so he will never have to go through the same experience as his dad.  

The many benefits of genetic testing include:

• Providing an earlier and more accurate diagnosis.
• Determining prognosis and confirming how the disease will develop.
• Dictating therapy and treatment, as well as providing faster treatment.
• Supporting family planning.
• Saving many more lives.

Thank you for helping us make this happen