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 Beskida Fejzullahu and her family, genetic testing has provided much more certainty. A type of testing known as whole exome sequencing enabled the discovery of a variant gene that is responsible for her son Arvin's health problems. The testing also allowed health professionals to determine that the variant gene was not present in her unborn child, and therefore that her second child was unlikely to be affected.
In this film, Beskida talks about the difficulties faced by families who have no diagnosis; and tells us what having a diagnosis means for her family.
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