Clinical molecular geneticist : Job description

Clinical molecular geneticists use biochemical and molecular biology techniques to identify genetic abnormalities associated with disease. 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 acquired changes in cancer tumours. They may also devise or develop new tests and procedures.

Most clinical molecular geneticists are based in The National Health Service (NHS)  within large hospitals or in other specialist laboratories.

Typical work activities

Typical activities 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.