Thanks to your incredible generosity, including an extraordinary gift of £104,000 from Kusuma Trust UK, the Charity has been able to purchase an Illumina NextSeq 2000 Sequencing System for Royal Brompton Hospital’s world leading Genetics and Genomics Lab. Now installed, the machine is helping with the lab’s vital work of diagnosing patients with inherited heart and lung conditions.

The Genetics and Genomics team handles a third of all tests nationally for inherited lung conditions and a quarter of all tests for inherited heart conditions. Demand for these tests has increased in the last few years and the team needed a new sequencer to manage this greater volume.

The new sequencer will mean that more patients, and their families, can get the certainty of a diagnosis for an inherited heart or lung condition sooner and receive treatment to manage these conditions.

The difference genetic testing makes

Many patients and their families are helped by the lab’s genetic tests. Andrew Fleming, Clinical Scientist at the Genetics and Genomics Lab, said: “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.”

Andrew added: “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.

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.

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.”

Thank you for helping patients

We want to thank Kusuma Trust UK for their wonderful gift of £104,000 to complete this appeal.

Soma Pujari, Executive Trustee from Kusuma Trust UK, said: "At Kusuma Trust UK we understand that to deliver newer, better treatments needs constant updating of equipment. Royal Brompton Hospital’s Genetics and Genomic Lab is one of four in the country providing specialist genetic sequencing for cardiac patients and one of three for lung diseases. We are pleased to support the purchase of a genetic sequencer again after our first grant in 2016 to help them provide rapid accurate diagnosis for more patients."

We also want to thank everyone else who donated or fundraised for this appeal. Your generosity will make a huge difference to heart and lung patients. Thank you.