Clinical geneticists are qualified doctors who specialise in genetic conditions and have specialist understanding of both the clinical presentation of rare genetic disorders and the laboratory features that go along with them. This gives them the unique ability to interpret genomic variants (identified using modern sequencing technologies) within the context of an individual’s situation to provide a diagnosis – where possible – for the individual and their family.
Clinical geneticists work as genomics specialists within the genomics multidisciplinary team in a hospital. They see a wide variety of patients. For example, they might see a child with a suspected genetic disease or they might see an expectant mother or couple to discuss risks to a pregnancy. They might also see adults living with a genetic disease diagnosis or questioning their risk of genetic disease. In all cases they advise on diagnosis, treatment and management of individuals as well as their wider family members, who may also be affected.
Many of the conditions seen by clinical geneticists are very rare and the role therefore requires lots of research into the latest medical literature, as well as working in collaboration with genomics specialists around the world to share expertise in particular conditions and ensure that every patient receives the best care.
This film showcases the work of the clinical geneticist and includes interviews with:
• Professor Anneke Lucassen, Wessex Clinical Genetics Service / Faculty of Medicine, University of Southampton
• Professor Kate Tatton-Brown, Consultant Clinical Geneticist, South West Thames Regional Genetics Service; Professor in Clinical Genetics and Genomic Education, St George's University of London
• Dr Andrew Douglas, Consultant Clinical Geneticist, Wessex Clinical Genetics Service; Honorary Senior Clinical Lecturer in Clinical Genetics, University of Southampton
• Dr Sabrina Talukdar, Specialist Registrar in Clinical Genetics, South West Thames Regional Genetics Service
The film explores the work of the clinical geneticist, including some of the challenges of the role and the way in which the role is changing as genomics is increasingly used in mainstream care; with geneticists required to support colleagues across the health system to interpret the results of genetic testing and devise treatment and management plans for patients.
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