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.
In this film, Dr Alison Berner, Specialist Registrar and Clinical Research Fellow in Medical Oncology, talks about exciting developments in the analysis of mutational signatures in tumour DNA.
Dr Berner talks specifically about her research in colorectal cancer, where she is studying mutational signatures with the aim of better understanding the impact they have on the way in which these cancers develop. She gives the example of a case where genomic testing provided a useful picture of the mutational signature of an indivdual's cancer, which also enabled the detection of an inherited cancer susceptibility gene. As Dr Berner explains, this impacted treatment and management of the patient in a number of ways. First, it gave the oncology team a clearer picture of his prognosis (likely to be slightly improved despite widespread disease). Second, it opened up the possibility of immunotherapy. And third it meant that the gentleman's family would be monitored due to the heritable nature of his cancer.
Dr Berner concludes by expressing her excitement about developments in oncology due to genomics, explaining that thare are many areas where the use of genomics is enabling progress.
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.