Wednesday, May 2, 2012

What is meant by medical genetics?

Medical genetics, or clinical genetics, is a specialist branch of medicine that is concerned with the diagnosis and management of hereditary disorders. As well as diagnosing and managing hereditary disorders and conditions, medical genetics can also include genetic counselling and, where a couple is thinking of having children, 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.

But what is the aim of medical genetics services? Their aim is three-fold. Firstly, for those whose lives are affected by genetic disorders, they try to promote independence and independent living. Secondly, they aim to support those who have been diagnosed with a genetic disorder or condition, or those who have been told they have a high risk of developing a genetic condition. And thirdly, they aim to offer information and advice about all aspects of their disorder or condition from treatment to starting their own family.

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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