A (Consistently) Bright Future

The ongoing evolution of genomics data as a key driver for improved patient outcomes through personalized medicine is raising the bar for clinical laboratories. Although cytogenetic testing is valued for its high specificity and accuracy – and its compatibility with a variety of protocol and sample types – these techniques are often time-consuming and require advanced training. Chromosome analysis, with incremental advancements in sample processing and automation, has been the tried-and-true approach for cytogenetics labs looking for a broad view of the complete genome over the last 50 years. And, ever since its arrival on the scene, fluorescence in situ hybridization (FISH) has become the chosen tool for evaluating many biomarkers and is now a key platform for researching disease biology and monitoring progression in cancer patients. Indeed, despite emerging technologies, such as next-generation sequencing, FISH remains the go-to tool for detecting many genetic abnormalities.

What if cytogenetics labs could take advantage of FISH assays and chromosome dropping – while overcoming traditional bottlenecks and drastically reducing both labor and reagent costs? And what if such a transformation allowed highly skilled technologists to focus their attention on the complex analysis needed to interpret cytogenetic assays? In my view, combining these tried-and-true methods with process optimizations and automated systems will allow clinical labs to enter a new era of cytogenetics.

And there are other drivers to consider; ever-changing reimbursement models are pushing laboratories to explore creative methods of reducing costs – and a shrinking pool of highly skilled laboratory technologists have put many laboratories in crisis mode. Instead of a one-sample – and largely manual – workflow, labs will increasingly need to adopt efficient, high-throughput approaches to make their processes faster and more cost-effective.

Fortunately, there are solutions! Non-contact, quantitative fluid dispensing technology miniaturizes and automates slide preparation for both karyotype analysis and FISH, taking cytogenetic testing to the next level. Slide preparation from fixed pellets for karyotype analysis has been completely automated – from normalizing cell pellets to dropping onto slides in a controlled environment for optimal results with minimal sample input requirements. And the ability to precisely dispense nanoliters of fluid onto glass slides allows cytogenetic labs to tackle many of the inefficiencies of classical FISH by enabling fast, reliable testing of much smaller sample sizes without the need for constant user oversight – and, at the same time, generating fewer pieces of glass to process and analyze.

And there are more cost savings: with ultra-low-volume dispensing technology, reproducible assays can be performed using 500–1,000 cells per sample, with eight individual samples per slide. This significantly reduces the volume of expensive fluorescent probe required (whereas traditional methods use up to 10 microliters of probe per assay, automation can achieve the same results with just 0.4 microliters). Given that probe costs make up a significant portion of the laboratory budget, these savings will have an impact on the overall cost of healthcare.

Automated dispensing technology can be used to process various matrices, diluting or concentrating samples automatically prior to printing them onto the slides. The increased reproducibility enables reliable automation of analyses and reduces turnaround times to keep laboratories efficient. Furthermore, many automated systems have built-in sample management tools, such as barcode readers that help track each sample from collection to result without undue user burden.

Applying precise automated dispensing technology, on-the-fly normalization, and strict environmental controls to chromosome dropping offers equally important advancements in chromosome slide preparation processes. It’s not hard to see how standardization through automation offers more reproducible results, improved scanning, and higher image resolution.

If you work in a clinical diagnostics laboratory, you will be no stranger to relying on technology and processes to overcome traditional bottlenecks and challenges. To keep up with growing demand, I believe laboratories will need a continued focus on standardization, automation, and miniaturization to increase efficiency and throughput. Just like many other lab processes before it, FISH has now been transformed to function in the modern cytogenetics diagnostics lab – and simple, cost-effective automated processes can help secure the technique’s continued future as the gold standard for cytogenetic testing.