Clinical Cytogeneticist

A clinical cytogeneticist detects and analyses hereditary diseases and abnormalities. This is achieved by studying chromosomes that 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 include 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

  • 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.
  • Analysis of bone marrow or blood samples to diagnose and manage suspected or known diseases of the blood, such as leukaemia.
  • 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.

Technical Skills

  • Laboratory skills and the ability to plan and do research.
  • Strong problem-solving skills.
  • Analytical and investigative mind.
  • Excellent oral and written communication skills.
  • Ability to manage a laboratory project and liaise with a wide variety of technical colleagues.
  • Excellent attention to detail.
  • Ability to work effectively as part of a team.
  • Good IT skills, as most laboratories are highly computerised.
  • Laboratory experience and an insight into the workings of a hospital laboratory.

Employment as a genetic technologist can offer an alternative route into cytogenetics. Genetic technologists, who work alongside cytogeneticists, are responsible for sample processing, cell culture and preparation of chromosome materials. Most employers would expect a biology-related BSc but you can enter this role without a degree or HND.

Career Development
Career progression is from trainee clinical cytogeneticist to post-registration up to the position of consultant clinical scientist. Promotion is directly linked to passing exams during pre-registration and post-registration periods. Clinical scientists are expected to achieve at least one further vocational qualification, for example, a chartered award or membership of an appropriate professional body. All post-registration clinical scientists are required to take part in continuing professional development and networking at all levels can aid this. Maintaining a professional profile by presenting research at meetings, undertaking work exchanges abroad and applying for research grants is also recommended. Heads of department and deputies in larger laboratories are employed at consultant grade, which is equivalent to medical consultant level, and may be involved in university lecturing.

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