Clinical cytogeneticist: Job description

A clinical cytogeneticist detects and analyses hereditary diseases and abnormalities. This is achieved by studying chromosomes which have been obtained from samples of blood, bone marrow, body fluid, amniotic fluid or foetal tissue samples.

The detection and interpretation of chromosome abnormalities is part of the management and treatment of many illnesses and disorders, including mental health issues, prenatal defects, infertility, and malignancies, which includes some leukaemias.

Cytogenetics, as a scientific discipline, draws its knowledge and techniques from both cytology (the study of cells) and genetics (the science of heredity) and this is reflected in the role. It requires the use of diagnostic screening methods, including cell culture and microscopy techniques.

Typical work activities

The work of a clinical cytogeneticist falls into three main categories:

• the analysis of blood from patients with congenital abnormalities, learning difficulties, reproductive problems or sexual development problems;
• prenatal diagnosis of chromosomal abnormalities from amniotic fluid, chorionic villus and foetal cord blood samples;
• the analysis of bone marrow or blood samples to diagnose and manage suspected or known diseases of the blood, such as leukaemia.

In general, common tasks might include:

• culturing and harvesting cells to produce mitotic cell preparations;
• preparing slides by chromosome spreading, banding and staining;
• analysing (microscopically) slide preparations to diagnose chromosome abnormalities;
• using fluorescence in-situ hybridisation to detect abnormalities or identify chromosomes;
• using light and fluorescence microscopy;
• working closely with other health professionals such as obstetricians, paediatricians, haematologists and clinical geneticists;
• reporting results;
• recording data and writing reports;
• supervising staff and training junior staff;
• optimising techniques and troubleshooting;
• undertaking service development and clinical audits;
• reading current literature;
• performing independent research;
• attending scientific meetings and conferences, including presentation of research findings;
• writing up interesting cases for publication in scientific journals.