Common conditions

Clinical Genetics is a service which offers clinical diagnosis, laboratory investigations, risk estimation and explanation of this to the family to enable them to decide on the most appropriate course of action and to understand how technology may benefit them. Establishing a genetic diagnosis or risk may also help colleagues in primary and secondary care to choose the most appropriate patterns of treatment and care.

When I tell people I am a clinical genetics doctor they say, “Oh, that’s a shame, do you miss not seeing the patients now?” Sadly this is how many people view genetics and the images portrayed by the media and artists like Jake and Dinos Chapman in the recent exhibition at the Saatchi Gallery help perpetuate this idea of genetic monsters

Personally I see patients all the time, working closely with Cytogenetic and Molecular laboratories. Medical Genetics is a diagnostic and counselling service for individuals or families concerned about the suspected or confirmed diagnosis of a genetic disorder. This may include affected individuals or those concerned about their risk on the basis of their family history. Other common reasons for referrals are families with a history of reproductive loss or congenital abnormality and developmental or sensory disability