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New Technology—Not Necessarily New Techniques—Is Transforming Cytogenetics

By embracing automation and miniaturization, cytogenetics labs can bring FISH into the 21st century

Matt Sergent

Matt Sergent, director of sales, molecular diagnostics, BioDot, Inc.

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Published:Nov 17, 2021
|2 min read
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As new technology emerges and laboratory instrumentation becomes more sophisticated, many cytogenetics labs may gravitate toward new techniques to modernize their workflows. This comes at a time when genomics data continues to play a increasing role in improving patient outcomes through personalized medicine approaches. As a result, labs face mounting pressure to optimize test procedures to eliminate bottlenecks and keep cost points low. While emerging techniques are exciting and hold great promise, technological advancement has also helped automate tried and true methods, including fluorescence in situ hybridization (FISH), the gold standard in cytogenetic testing.

The role of FISH in cytogenetics

Cytogenetic analyses typically involve the microscopic examination of patient samples to identify chromosomal abnormalities, making it useful for the detection of genetic disorders and hematological diseases, as well as for diagnosis and monitoring in oncology. FISH works with fixed cells or tissue samples using fluorescent probes to target specific DNA sequences. This is an effective way to visualize and map the genetic material in a cell to detect numerous genetic abnormalities—deletions, duplications, or translocations—and even perform so-called chromosome “painting” using multiple fluorophores to detect chromosome rearrangements.

FISH has remained the chosen tool for evaluating many disease biomarkers thanks to its simplicity and reliability. It serves as a key platform for monitoring disease progression in cancer patients and is used extensively in research labs to help further our understanding of disease biology. Despite the benefits of its high specificity and accuracy, many protocol options, and applicability to a broad range of sample types—including blood and solid tumors—the manual approach to traditional FISH workflows has been a major bottleneck for some cytogenetics labs.

Introducing the cytogenetics lab of the future

The answer to this problem doesn’t necessarily lie with new and emerging techniques, which require complex workflow transformation, a highly skilled bioinformatics workforce, and increased lab costs. Instead, cytogenetics labs can bring the gold standard method of FISH into the 21st century by embracing automation and miniaturization for a far more efficient and cost-effective lab.

Through noncontact and quantitative fluid dispensing technology, many of the inefficiencies of traditional FISH can be tackled by cytogenetic laboratories. This technology—which involves precision dispensing of nanoliters of fluid onto glass slides—facilitates the testing of much smaller sample sizes faster and without the need for constant user oversight, resulting in a higher degree of reproducibility, lab efficiency, and productivity, as well as reduced turnaround times. 

Furthermore, many automated dispensing systems use built-in sample management tools, such as barcode readers, to track each sample from collection to result without undue user burden. Because this technology generates fewer pieces of glass to process and analyze and only requires 0.4 microliters of expensive fluorescent probe per assay compared to the traditional 5–10 microliters, ultralow volume dispensing technology also helps labs save on expensive material costs. These savings can then be invested into other crucial areas of health care and research.

Cytogenetics 2.0

By applying precise automated dispensing technology, on-the-fly normalization, and strict environmental controls, important advancements in FISH as well as chromosome slide preparation processes can be made. Standardization through automation has proved invaluable for producing consistent, high-quality, and reproducible results and has transformed FISH so completely that it is ushering in a new generation of cytogenetics. Welcome to cytogenetics 2.0.