Clinical Cytogenetics: Current Advances and Future Perspectives

Dear Colleagues,

Clinical cytogenetics has undergone remarkable transformations since the early days of G-banded chromosome analysis. High-resolution molecular techniques including fluorescence in situ hybridization (FISH), chromosomal microarray, and genome mapping technologies continue to revolutionize our ability to detect and understand chromosomal abnormalities at an unprecedented level of detail.

These advancements have significantly impacted clinical practice and improved patient outcomes. However, chronic staffing shortages and an aging workforce continue to challenge cytogenetics laboratories and were exacerbated by the COVID-19 pandemic. These challenges have been compounded by the increasing complexity of genetic data and a move towards more molecular-based technologies, requiring a different skill set than what has been historically in the cytogenetic technologists’ repertoire. Automation and the introduction of AI algorithms in cytogenetics labs for sample processing, image analysis, and data interpretation have helped to alleviate some of the burdens on laboratory staff. These technologies not only improve efficiencies but also enhance the accuracy and reproducibility of cytogenetic analyses. Currently, AI algorithms are limited to digital karyotyping and FISH applications, but the future of AI in the cytogenetics lab will certainly continue to drive efficiencies in other areas of data analysis.

Despite the exciting technological advancements, we must continue to adapt to the evolving landscape of genetic/genomic testing and advocate for our profession to attract and retain new talent among technical staff. As we look to the future, it is essential to explore innovative solutions and collaborative efforts to overcome the current challenges and harness the full potential of cytogenetics and cytogenomics.

This Special Issue, dedicated to the current advances and future perspectives in the field of clinical cytogenetics/cytogenomics, will address these topics. As such, experts in the field are invited to submit their original research or review papers.

This call for papers was generated with the assistance of Microsoft Copilot.

Dr. Rachel D Burnside
Guest Editor

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