What Does a Clinical Cytogeneticist Do?

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  • Written By: Donna Tinus
  • Edited By: W. Everett
  • Last Modified Date: 25 November 2019
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A clinical cytogeneticist is a specialist in the field of hereditary diseases and abnormalities. He studies the human chromosomes in a patient's tissue sample or fluid sample. Chromosomes are a part of the cell nucleus that hold each individual's DNA that is inherited from his parents. The clinical cytogeneticist works with physicians to detect physical or mental disorders. The word cytogenetics is a combination of cytology, which is the study of cells, and genetics, which is the study of heredity.

Diseases, such as leukemia, are diagnosed by a clinical cytogeneticist who has examined bone marrow for signs of abnormality in the chromosomes under a microscope. The clinician often examines sperm samples to diagnose infertility or low sperm count in males to aid the fertility specialist in treating couples who are having trouble conceiving. Prenatal defects can be diagnosed by a clinical cytogeneticist by examining amniotic fluid, which contains DNA from the fetus. Tissue samples are used to detect if a sample is malignant, which is cancerous, or benign, hich would be considered harmless.


A typical work day for a clinical cytogeneticist may include analyzing samples from patients, documenting the results, and reporting the results to the physician. He will prepare slides using banding and staining techniques, examine the slides under a microscope, and diagnose chromosome abnormalities based on comparing the cells to normal cells. The clinician often utilizes several other methods of diagnosis, including fluorescence in-situ hybridization, which is a method of detecting DNA sequences on chromosomes. The clinical cytogeneticist may also perform independent research and publish whatever findings and conclusions his research leads to. Some time in his week is devoted to reading current literature because the field is constantly evolving and developing new techniques.

This is a highly specialized area of clinical medicine. To work in this field, one generally needs to be a doctor with a medical degree or philosophy degree. To qualify, he has usually finished a two-year medical genetics residency in a hospital or clinical setting. He will then participate in a clinical cytogenetics fellowship in a postdoctoral program that generally lasts two years, or work in a hospital or clinical setting under another clinical cytogeneticist. The candidate is usually required to pass an exam in molecular genetic pathology before seeking a position.


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