A clinical cytogeneticist is a genetics expert who specializes in hereditary diseases and abnormalities. He looks at the human chromosomes in a tissue or fluid sample from a patient. Chromosomes are a type of DNA that is inherited from one’s parents and are found in the nucleus of the cell. Clinical cytogeneticists collaborate with physicians to identify physical and mental illnesses. The term cytogenetics is a combination of the terms cytology and genetics, which refers to the study of cells and heredity, respectively.
A clinical cytogeneticist examines bone marrow for signs of abnormality in the chromosomes under a microscope to diagnose diseases like leukemia. In order to assist the fertility specialist in treating couples who are having difficulty conceiving, the clinician frequently examines sperm samples to diagnose infertility or low sperm count in males. A clinical cytogeneticist can detect prenatal defects examining amniotic fluid, which contains DNA from the fetus. Tissue samples are used to determine whether a sample is malignant, or cancerous, or benign, or non-cancerous.
A clinical cytogeneticist’s typical day might include analyzing patient samples, documenting the results, and reporting the findings to the physician. He’ll use banding and staining techniques to prepare slides, examine them under a microscope, and compare the cells to normal cells to diagnose chromosome abnormalities. Other diagnostic methods used the clinician include fluorescence in-situ hybridization, which is a technique for detecting DNA sequences on chromosomes. The clinical cytogeneticist may also conduct independent research and publish the results of his or her findings and conclusions. Because the field is constantly evolving and developing new techniques, he devotes some time in his week to reading current literature.
Clinical medicine in this field is extremely specialized. To work in this field, one must be a doctor with a medical degree or a philosopher with a philosophy degree. He usually has completed a two-year medical genetics residency in a hospital or clinical setting to qualify. He will then either complete a two-year clinical cytogenetics fellowship or work in a hospital or clinical setting under the supervision of another clinical cytogeneticist. Before applying for a position, the candidate must usually pass a molecular genetic pathology exam.