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:
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.
Common tasks carried out by clinical molecular geneticists include:
establishing genotypes (the genetic make-up of individuals) and using diagnostic procedures and tests to detect genetic diseases;
using laboratory techniques, including PCR (polymerase chain reaction) to multiply a small amount of DNA for testing; mutation detection techniques, such as SSCP (single strand conformation polymorphism); denaturing HPLC (high performance liquid chromatography); southern blotting; DNA sequencing and fragment analysis, using capillary electrophoresis; and the laser detection of fluorescent dyes;
writing reports for clinicians (including family doctors, consultant neurologists and paediatricians) who have requested tests and advising them on investigation strategies;
interpreting the results of routine tests carried out by genetic technologists, who conduct the majority of the DNA extraction work;
developing and devising new investigation strategies, taking account of the clinical problems of genetic disease and the clinical relevance of inherited or acquired genetic abnormalities;
conducting research and development, designing new molecular genetics techniques and assays for genetic disease;
dealing with enquiries and communicating with clinical colleagues and other healthcare professionals;
training and teaching colleagues and other healthcare professionals;
supervising the work of genetic technologists and junior staff;
interpreting quality control and quality assurance data;
updating professional skills and knowledge by reading scientific literature and attending training courses and conferences.
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