Royal Brompton and Harefield hospitals’ Clinical Genetics and Genomics Laboratory team is celebrating the milestone of analysing 10,000 samples of DNA.
Genetic testing is carried out to confirm a diagnosis of a suspected inherited cardiac or respiratory condition in patients who have symptoms. Blood or saliva samples are collected and are then sent to the Clinical Genetics and Genomics Laboratory where the DNA is analysed by clinical scientists and bioinformaticians. Discovering if patients have an inherited disease can help doctors to decide on the right medical treatment. It also means that relatives of patients can be invited for genetic testing to find out whether they are at an increased risk of developing the same disease before symptoms even start. If they are, then clinical screening and tests can be done more frequently to catch the disease in an early stage when it may be easier to treat, or they may be able to prevent the disease from developing at all through medical treatment and lifestyle changes. All of this can put people’s minds at ease.
The laboratory team was established in 2015 to provide genetic testing for inherited cardiac conditions, and two years later introduced genetic testing for inherited respiratory conditions. Starting as only four people just six years ago, the team has gone from strength to strength, and is now a team of 16; four clinical scientists, three bioinformaticians, seven technical and two admin staff.
In 2018, the laboratory became part of the South East Genomic Laboratory Hub, based at Guy’s and St Thomas’ NHS Foundation Trust, as part of a new national NHS Genomics Medicine Service. As one of four cardiac hubs and one of only three respiratory hubs in the country, the team now receives samples to analyse from the whole of London and South East England.
Dr Deborah Morris-Rosendahl, consultant clinical scientist and head of the Clinical Genetics and Genomics Laboratory, said: “We started off receiving just 200 samples a year to analyse, so it is a real achievement for the team to receive the 10,000th sample. Among those 10,000 samples there have been many new and confirmed diagnoses for both patients and their family members – this was only possible due to the close working between the laboratory and our fantastic clinical colleagues at Royal Brompton and Harefield hospitals, as well as other referring centres.”
Joanne is a Harefield Hospital patient who was offered genetic testing for her cardiomyopathy in 2020 after her brother developed the same condition. Joanne said: “The testing has been a quick and simple process and the implications of the results were explained thoroughly beforehand. Our 10-year-old son was also worried he may have the same gene for cardiomyopathy. Thankfully genetic testing has shown that he has not inherited it, which was a relief. And for those whose genetic testing does discover they have a gene for an inherited condition, clinical screening can be done to help catch the disease at an early stage when it is easy to treat.”
The team at the laboratory works closely with both the paediatric and adult clinical teams and can diagnose conditions such as cystic fibrosis, primary ciliary dyskinesia, aortopathies, inherited arrhythmias and cardiomyopathy. The team is also involved in many national and international research collaboratives as well as the European Molecular Genetics Quality Network and the UK National External Quality Assessment Service.
Detailed medical and genetics information is complicated and can be confusing for patients, so clinical geneticists and genetic counsellors are available at all stages of the process to help them make informed decisions about testing and treatment.