By Trisha Ampleforth-May
Medical genetics, also referred to as clinical genetics, is a field of medicine concerned with the diagnosis and treatment of hereditary disorders and conditions. This includes diagnosis as well as treatment and support including management and counselling. As well as concerning those already affected, medical genetics is also applied to those thinking of having children (known as risk estimation).
Of course within the spectrum of hereditary disorders there are also sub-divisions of different types of disorders and conditions. These include genetic syndromes (Down syndrome), metabolic (or biochemical) genetics (glycogen storage disease), cytogenetics (chromosome abnormalities), molecular genetics (cystic fibrosis) and many other medical genetic disorders and conditions including birth defects, cancer, autism and epilepsy.
The main aims of medical genetics services are three-fold. Firstly, the promote independence and independent living to those affected by genetic disorders or conditions. Secondly, such services aim to support people not just already affected, but who have been told they are at high risk of developing a genetic condition. And finally, medical genetics services aim to provide advice and information regarding all aspects of their genetic disorder or condition including information on treatment and family planning advice.
Because medical genetics covers a wide range of disorders and conditions as well as treatment and support, there are, therefore, an equally wide range of careers in medical genetics. A clinical geneticist researches, examines and reviews a person who is vulnerable to hereditary disorders and conditions. There are then specialists in each disorder or condition such as those working in biochemical, molecular or cytogenetic diagnostics, or as a metabolic nurse or nutritionist.
Almost all who research the genetic basis for human disease could be described as working in genetics. There are then laboratory technicians and genetic counsellors who provide invaluable support to physicians, the patient and their families. Due to advances in science and technology, careers in medical genetics are constantly evolving and changing people's lives for the better.
Of course within the spectrum of hereditary disorders there are also sub-divisions of different types of disorders and conditions. These include genetic syndromes (Down syndrome), metabolic (or biochemical) genetics (glycogen storage disease), cytogenetics (chromosome abnormalities), molecular genetics (cystic fibrosis) and many other medical genetic disorders and conditions including birth defects, cancer, autism and epilepsy.
The main aims of medical genetics services are three-fold. Firstly, the promote independence and independent living to those affected by genetic disorders or conditions. Secondly, such services aim to support people not just already affected, but who have been told they are at high risk of developing a genetic condition. And finally, medical genetics services aim to provide advice and information regarding all aspects of their genetic disorder or condition including information on treatment and family planning advice.
Because medical genetics covers a wide range of disorders and conditions as well as treatment and support, there are, therefore, an equally wide range of careers in medical genetics. A clinical geneticist researches, examines and reviews a person who is vulnerable to hereditary disorders and conditions. There are then specialists in each disorder or condition such as those working in biochemical, molecular or cytogenetic diagnostics, or as a metabolic nurse or nutritionist.
Almost all who research the genetic basis for human disease could be described as working in genetics. There are then laboratory technicians and genetic counsellors who provide invaluable support to physicians, the patient and their families. Due to advances in science and technology, careers in medical genetics are constantly evolving and changing people's lives for the better.
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