Meet the Clinical Geneticists

In this video we meet Clinical Geneticists. We learn that they 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.

Professor Anneke Lucassen, Professor Kate Tatton-Brown, Dr Andrew Douglas and Dr Sabrina Talukdar showcase what the work of clinical geneticists involves:

• Clinical geneticists work as medical 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.
• For all patients they see 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.

The film explores 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.