Genetic testing provides life-changing options to patients and families

World-leading genetic testing at Royal Brompton Hospital provides vital information about inherited lung and heart conditions to thousands of patients and their families across the UK, offering them life-changing treatment options.

Our Genetics and Genomics Team tests DNA samples using a cutting edge sequencing platform to look at patients’ genes in molecular detail, to identify changes in the DNA sequence which may be the cause of the patient’s disease. They then analyse these changes to aid in the diagnosis and treatment for a range of respiratory and cardiac conditions.

If a genetic cause is found, the patient’s family can also be tested to see if they carry the altered gene and are at risk of developing disease. This allows doctors to use interventions such as medication and regular testing to catch and treat diseases earlier.

Raising vital funds for a new sequencer

The vital work happening in our Genetics and Genomics Team is benefitting families around the country, with testing taking place for one third of lung conditions and a quarter of heart conditions in the UK. 

To help meet increasing demand, we are raising vital funds to buy a second Next Generation Sequencer that will dramatically increase their throughput and utilise improved technology to provide faster and more accurate results.

You can support the Next Generation Genetics appeal here. 

How we use sequencers in gene testing

To find out more about this crucial work, we spoke to Clinical Scientist Andrew Fleming. “If we know about a genetic cause within a family, we can help guide treatment for that patient and also test for the genetic variant in their family members, allowing for earlier diagnosis or exclusion from life-long monitoring, which would otherwise take a toll on their life and NHS resources” Andrew said. “For some more severe conditions we can test for these familial genetic variants prenatally (of babies in-utero) which will help inform in the management of a pregnancy.”

“These Next Generation sequencers let us see parts of the genome that we’re particularly interested in by looking at a few hundred genes at a time. This targeted approach to specific genes of interest, gives us a better look at the DNA’s sequence in less time.”

Results from the sequencer provide a better understanding about the types of mutation and which genes are impacted. This helps the team, together with doctors, decide which approach is best for the patient and their family.     

Conditions including inherited arrhythmias, such as Long QT syndrome and Brugada syndrome, as well as Marfan syndrome (a disorder of the body’s connective tissues) and cardiomyopathies can be detected and managed earlier on.

The team also test patients who have sadly passed away as part of their autopsy. Andrew explains: “We test on tissue from the post-mortem sample to try and confirm the cause of death, for example we can pick up conditions such as arrhythmias which commonly do not affect the heart structure, and are therefore missed during a conventional post-mortem. If we find a genetic cause, then we can then test other relatives to inform on our their risk and need for clinical intervention.”

We recently had a case of a man who died and by genetic testing found he had a genetic variant which causes Marfan syndrome,” Andrew continued. “We've since been able to test all his children for this genetic variant and confirmed they weren't at risk of developing the syndrome, which obviously provided peace of mind for the family.

What another machine will mean for our work

The Next Generation Sequencer will allow our Genetics and Genomics Team to go even faster, getting more data to analyse results to provide quick and clear diagnoses for patients.

Andrew said: “As our understanding of these conditions grow so does the number of genes we need to sequence and analyse in an increasing number of patients. For example, dilated cardiomyopathy can be caused by ~50 different genes. With a new sequencer this process will be easier as it can test higher volume of samples and collects more genetic sequence data.”

The new sequencer will also allow the team to better collect and collate data on genetic variants for rare inherited respiratory and cardiac conditions, including some conditions, such as Alveolar capillary dysplasia, which are only tested for at Royal Brompton Genetics and Genomics Laboratory.

Andrew continued: “We’ve had a massive increase in the number of DNA samples, and although our team has grown to try and meet demand, we’re at that point where we would struggle without another sequencer to get results out in the time needed to really help patients and their families”

Find out more about the equipment, fundraise or donate to our appeal below.  

Next Generation Genetics Appeal