Clinical Cytogenetics

The HMS Program in Clinical Cytogenetics has been accredited since 1984 and has evolved to current use of two HMS-affiliated laboratories (both considered on-site) for training fellows. The main site is the Cytogenetics Laboratory at Brigham and Women's Hospital (BWH). In addition to serving BWH, this Laboratory also serves the Massachusetts General Hospital and Dana-Farber Cancer Institute. The second Laboratory is also located in the Longwood Medical area (two blocks from BWH) at the Beth Israel Deaconess Medical Center (BIDMC). Both Laboratories are administered and physically located within their respective Departments of Pathology. Together, these laboratories process approximately 10,000 specimens from all tissue types (amniotic fluids, chorionic villous specimens, peripheral bloods, bone marrows, lymph nodes and tissues, as well as solid tumors at the BWH Lab). Each Laboratory is equipped with modern facilities for performing routine cytogenetic analyses and molecular cytogenetics. For standard cytogenetic analyses, both laboratories are outfitted with imaging stations for metaphase capture and karyotype preparation. Fluorescence in situ hybridization (FISH) assays offered include conventional FISH for microdeletions at both Labs, as well as subtelomeric FISH, Rx-FISH and array CGH through the BWH Lab. Imaging stations and fluorescent microscopes are available at each site. Fellows in our Program rotate through both these Laboratories during the course of the clinical year.

The major training objectives of the Clinical Cytogenetics Training Program are to provide: (1) exposure to the heterogeneity, variability and natural history of human cytogenetics; (2) opportunities to become proficient first at karyotyping, then at microscope analysis (correctly analyzing a variety of "unknown" archived specimens before graduating to microscope analysis of actual cases); (3) hands-on experience with all aspects of specimen processing; (4) experience with all aspects of fluorescence in situ hybridization (FISH) set up and analysis; (5) opportunities to interpret cytogenetic results, review cases and draft reports, as well as; (6) opportunities to communicate and discuss results with other clinical caregivers. While fellows become familiar with the range of genetic disease amenable to cytogenetic testing, participation in quarterly internal quality assurance/quality control surveys also foster an appreciation for a range of critical lab management issues.

In part to increase the clinical awareness of our Lab fellows for the work performed in the Lab, each trainee is paired with a clinical genetics (M.D.) fellow in our Program. This "buddy system" has been in place for two years now and provides the MD fellows with important contact people to assist in matters relating to laboratory diagnostics. The buddies also pair up for required genetics clinic visits so that Lab fellows gain invaluable experience meeting and communicating results to patients and families. Recently, some of our paired "buddies" have worked together to report interesting cases or to expand on specific cases with more in-depth studies and prepare these data for publication; publication of a clinical project performed over the course of the year is now a requirement for all Cytogenetics fellows.

Weekly conferences are held for clinical correlation of laboratory results; Cytogenetics fellows lead the majority of these conferences. Monthly conferences to discuss technical aspects of lab processing and management are led by senior technical staff in the laboratory, and fellows are required to attend. In addition, fellows participate actively in clinical programs and associated genetic counseling sessions conducted at the Harvard-affiliated hospitals, as well as in weekly teaching program-wide conferences.