Our 'Clinical Genetics in Action' series was created in collaboration with the Royal College of Physicians. The films were initiated at a meeting of the Joint Committee on Genomics in Medicine (The British Society for Genetic Medicine, The Royal College of Pathologists and The Royal College of Physicians), with development led by Dr Kate Tatton-Brown and Dr Katherine Josephs at St George's Hospital, London. Clinical Genetics is an area of medicine that is rapidly evolving as more genomic tests are developed and we learn more and more about the links between genes and disease. The series showcases some of the many breakthroughs in genomics and how they are changing the lives of patients, whilst also highlighting some of the challenges for healthcare professionals of using genomic technologies.
For Iain Emmerson, who has a genetic condition called tuberous sclerosis complex - ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#diagnosis, genetic testing and recent advances in gene-directed therapy have meant access to a new medication as part of a pilot at St George's Hospital, London. Everolimus inhibits the growth of tumours that result from this condition, and it is hoped that the drug will significantly prolong Iain's life and the lives of others who have access to it.
Iain talks about the psychological impact of being offered everolimus after previously being told that his life expectancy didn't exceed his late 40s. He explains that the drug has given him a new lease of life and he is thankful to have been able to take part in the pilot.
Health Education England's Genomics Education Programme is developing a substantial education programme to inform healthcare professionals about the impact of genomics on clinical practice. This video is the one of the many educational resources from the programme.
For more information visit genomicseducation.hee.nhs.uk