The development of a microcomputer-based chromosome analysis system is proposed that will enable a trained cytogeneticist to analyze clinical chromosome preparations more efficiently. The system would allow the trained cytogeneticist to make all decisions regarding chromosome recognition and identification of chromosome defects. The computer would then aid the cytogeneticist in assembling final karyotypes from video images digitized directly from the microscope. The system would produce permanent pictorial records of karyotypes and would provide laser disk archiving for chromosome analyses of patients, allowing nearly instantaneous retrieval of chromosome data. This approach to interactive chromosome analysis should greatly increase the speed with which clinical results can be obtained, ease the fatigue which is associated with chromosome analysis directly from the microscope, relieve the burdens on the trained cytogeneticist associated with photographic documentation, and facilitate automated chromosome data archiving and information retrieval important in any clinical laboratory. Because of the high level of microcomputing power determined in Phase I of this project, we will incorporate into our system mitotic cell finding/evaluation and computer aided instruction in karyotyping. Opportunities for commercialization associated with this project are very significant, since there are approximately 400 laboratories in the United States performing clinical chromosome analysis, and a smaller but significant number involved in cytogenetics research.
