On the selection of systems for automated cytogenetic analysis
Authors: Lundsteen Claes , Martin Alice O. , Reynolds James F. 
Published: June 2005

Impressive technological advances in systems for automated metaphase location and cytogenetic analysis have resulted in a proliferation of commercially available systems offering a variety of performance and price options. Based on the numbers of systems sold, it appears as if automation is becoming an accepted component of cytogenetic laboratories. To address the question of whether automation is useful and, if so, to identify the advantages and disadvantages of some of the systems, we have supplemented our own laboratory experience using the Magiscan routinely for clinical cytogenetic analysis, with information obtained during an on‐site survey of other clinical cytogenetic facilities using automated systems (Genetiscan, Karyotype Image Editor, Metachrome, Cytoscan). Some systems provide both metaphase‐locating and karyotyping capabilities‐some only the latter.

The basic structure of all systems is similar: microscope with camera, image processor, mechanism for operator interaction with the computer, hard copy printer. Metaphases are digitized, analyzed, and converted to permanent images. Metaphase‐locating systems (Cytoscan, Magiscan, Metachrome) require, in addition, motorized slide‐scanning stages.

The biggest time savings resulting from use of automation is in the karyotyping steps, especially the production of a hard copy. Consequently, laboratories making many karyotypes will benefit most from such systems.

The optimum choice of system will depend on specific laboratory parameters: number and type of specimens processed; operational preferences, e.g., number of bands per metaphase; number of metaphases counted; and karyotypes prepared per case. Laboratories processing chorionic villus specimens and/or bone marrows, where much slide area must be searched, will benefit from fast metaphase locators with multislide stages. Laboratories processing blood specimens where only a few minutes are taken manually to locate metaphases may need only a karyotype system. Special‐purpose software is attractive because tasks beyond the abilities of humans enhance diagnosis: algorithms to straighten prophase chromosomes, composite karyotypes for cancer cells, band enhancement to improve resolution.

Comparative purchase prices of metaphase locating and analysis systems show the Cytoscan to be highest, Magiscan intermediate, and Metachrome the least expensive. Genetiscan is the most expensive analysis‐only system, Magiscan is intermediate, and the Karyotype Image Editor is the least expensive.

In addition to the basic hardware and software costs, which are substantial, purchasers should determine what additional costs are to be incurred for microscopes, printers, and special‐purpose software. What is included in the basic price varies among companies. Maintenance costs also vary and must be considered in the cost‐benefit ratios. Total cost must be compared to cost savings of introducing automation for each lab. General formulas are not meaningful because of variation in laboratory organization. Each laboratory must make its own comparison based on guidelines we present.