Clinical molecular geneticists examine samples of patients' DNA to identify genetic abnormalities which may be part of inherited diseases. They can also help to predict whether any abnormal genes that are detected can be passed on to the next generation. They screen individuals both before and after the appearance of symptoms.
The work falls into three main categories:
- prenatal diagnosis;
- carrier testing;
- confirmation of diagnosis.
Some clinical molecular geneticists also use testing techniques to examine non-inherited conditions, such as analysing changes in cancer tumours. They may also devise or develop new tests and procedures.
Most clinical molecular geneticists are based in large hospitals or in other specialist laboratories.