What is Clinical Genetics?
“Ultimately medical genetics is about the patient and is trying to take us from the gene to the molecule to the organ and how that fits in with the body in general. Therein lies the continuing hope for the future.”
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