A clinical cytogeneticist is an individual with a U.S. earned doctoral degree (M.D., D.O., Ph.D., or the equivalent) who can correctly perform and interpret cytogenetic analyses relevant to the diagnosis and management of human genetic diseases and who acts as a consultant regarding laboratory diagnosis for a broad range of cytogenetic disorders, including inherited and conditions.
These requirements imply that the individual possess:
- The ability to supervise and direct the operations of a clinical cytogenetic diagnostic laboratory, including technical expertise and knowledge in quality control and assurance procedures;
- Board knowledge in human cytogenetic, including prenatal and postnatal cytogeneitc diagnosis; infertility and pregnancy loss, cancer, and leukemia;
- an understanding of the heterogeneity, variability, and natural history of cytogenetic disorders;
- diagnostic and interpretive skills in a wide range of cytogenetic problems; and
- The ability to communicate cytogenetic laboratory results in the capacity of consultant to medical genetics professionals, to other clinicians, and directly to patient in concert with other professional staff.
The UCLA Intercampus Medical Genetics Training Program experience in Clinical Cytogenetics includes extensive laboratory experience, gaining independent expertise in both long- and short-term cell culture, the recognition and collection of mitotic cells and slide preparation, and a variety of banding techniques including, but not limited to, G-, Q-, C-, and NOR- banding, and most recently fluorescent in situ hybridization. Fellows do microscope analysis and karyotyping of at least 50 cases and special studies (high resolution, FISH, special banding such as R- and Dista-DAPI, breakage studies, SCE analysis or molecular studies) on an additional 25 cases. In addition to actual bench work, the fellows are involved in the pre-review and clinical interpretation of at least 75 additional cases and are involved in directing the laboratory staff in the processing of these samples, recommending and often doing, special studies as needed. This training is spread out over all areas of cytogenetics, including prenatal diagnosis, assessment of congenital abnormalities and reproductive problems and evaluation of cancer patients.