20 December 2016
Fiona Copeland, chair of the PCD Family Support Group UK and patient representative for the respiratory patient representatives group at Royal Brompton, spoke at the recent British Thoracic Society winter meeting on the patient’s perspective of genetic studies within clinical practice.
Using her own ‘genetic story’ of having two children with primary ciliary dyskinesia and a husband with a degenerative eye condition, Fiona highlighted how genetic medicine could help her family. She also explained that it may have helped her children get an earlier diagnosis which would have allowed treatment to have started earlier which may have helped delay the development of bronchiectasis.
Going forward, she believes that genetic medicine and initiatives such as the 100,000 Genomes Project will help with the earlier identification of lung infections (there is already research into early detection of pseudomonas using genetic analysis), which will allow patients to take appropriate antibiotics earlier and for longer-term genetic medicine to help regrow cilia, lung tissue or retina cells that could reverse the damage.
Royal Brompton & Harefield NHS Foundation Trust is part of the West London Genomic Medicine Centre, along with Imperial College Healthcare NHS Trust, Chelsea and Westminster Hospital NHS Foundation Trust and the Royal Marsden NHS Foundation Trust.
Find out more about the 100,000 genomes project.