Underpinning so much of modern medicine is our ability to understand the genetic causes of disease. Genetic and genomic technology, which has leapt forward in the last decade or so, allows our colleagues at Royal Brompton and Harefield hospitals and across the NHS to diagnose conditions accurately, develop personalised plans of care and, where appropriate, give advice for preventative steps.

This last option is particularly relevant when a genetic sequencer is used to screen the family member of a patient. Simply put, the earlier an inherited condition is detected the more options there are for managing care. In the most extreme circumstances, it can make a difference between life and death. And in all cases, it means the person involved doesn’t have to live with the uncertainty of not knowing if they are vulnerable to a particular disease.

The genetic and genomics team at Royal Brompton and Harefield provide an excellent service to support clinical teams at our hospitals and right across the NHS – and therefore improve the options for patients and their families. But the better tools they have available, the more they can do. Demand for their services is very high right now. Investing in a new genetic sequencer will mean a higher volume of work is possible, waiting times are shorter and more families are helped.

We need to raise £280,000 to buy an Illumina NextSeq 2000 Sequencing System, which is pretty much the best kit that’s available for this sort of work. We’ve just launched a brand new appeal, Next Generation Genetics, to get the genetic and genomics team the equipment they need. You can read more about the difference we can make, and the impact genetic screening has on families in this patient’s story. Please help us, if you can.

Thank you for your support, now and always.

Find out more about the Next Generation Genetics appeal