Clinical cytogeneticist

Detects, analyses and interprets chromosomal abnormalities in human blood, tissue and/or bodily fluid samples.

Job description

Clinical cytogenetics is a laboratory based science which involves processing and analysing the chromosomes of different types of samples with the purpose of detecting and interpreting chromosome abnormalities. Detection and interpretation of chromosome abnormalities is the role of the cytogeneticist. They are experts in studying chromosomes from samples of human blood, tissue, bone marrow or other bodily fluids, which is very important in diagnosing genetic diseases.

The work of the Cytogeneticist falls into three main categories:

  • Analysis of blood from individuals with a variety of problems including congenital abnormalities, learning difficulties, reproductive difficulties and sexual development problems.
  • Prenatal diagnosis of chromosomal abnormalities from amniotic fluid or chorionic villus samples.
  • Analysis of samples (usually bone marrow or blood) from patients with known or suspected haematological conditions, such as acute leukaemia, to aid in the diagnosis and management of the disease.

Although direct contact with the patient is rare for Clinical Cytogeneticists, they work closely with a range of health professionals, including Obstetricians, Paediatricians, Haematologists and Clinical Geneticists.

Work activities

  • Detecting and interpreting chromosome abnormalities.
  • Culturing and harvesting cells to produce mitotic cell preparations.
  • Preparing slides by chromosome spreading, banding and staining.
  • Analysing slide preparations to diagnose chromosome abnormalities.
  • Analysing patient specimens via photography, DNA techniques, sophisticated computer-aided technology and other automated testing procedures.

Work conditions

Travel: not normally part of the working day.
Working hours: laboratories normally operate routine working hours 9–5 Monday–Friday.
Location: mainly in cities throughout the country.
Opportunities for self-employment: unlikely.

Typical employers

Clinical cytogeneticists are mainly employed in cytogenetic units, which are often attached to teaching hospitals such as the Cytogenetics Laboratory at the National Centre for Medical Genetics based in Our Lady’s Children’s Hospital, Crumlin, Dublin.

Entry requirements

A degree in a relevant subject with a significant genetics component is normally required for entry.

Specific degree subjects required

  • Biochemistry
  • Biological sciences
  • Biomedical science
  • Genetics
  • Medicine
  • Physiology.

Postgraduate study

A pre-entry postgraduate qualification is not a requirement.

Specific entry requirements

In order to practice in the UK as a clinical cytogeneticist, you must be registered with the Health Professions Council.


Republic of Ireland: Most laboratories employ their own competence based training scheme. Continuous on-the-job training is required to learn new laboratory techniques and IT developments, to keep up to date in their specialist area.
UK: The National Training programme for Clinical Scientists in Cytogenetics which can be carried out in over 20 accredited training laboratories within the UK. The training period is usually 2-3 years depending on the training centre.

Tips for applications

Research work, hospital laboratory placements and/or relevant experience gained using similar scientific and analytical techniques can be useful.

Skills and qualities

  • An analytical, logical and inquisitive mind.
  • Excellent problem-solving skills.
  • Patience, decisiveness and a meticulousness and systematic approach to tasks.
  • Excellent research and experimental laboratory skills.
  • Ability to interact and communicate effectively with a wide range of people.
  • Excellent IT skills
  • Accuracy is highly important, coupled with the requirement of rapid reporting, particularly with reference to prenatal diagnosis.
  • Ability to work effectively as part of a team.

Labour market information

The National Centre for Medical Genetics, Dublin is currently undergoing a period of rapid expansion and development.