January 08, 2024

Revolutionizing Cytogenetics with AI

Revolutionizing Cytogenetics with AI: A Conversation with Dr. Renu Bajaj

In the ever-evolving world of medical diagnostics, the integration of artificial intelligence (AI) has opened up new frontiers in precision and efficiency. One field that has benefited significantly from AI is cytogenetics, the study of chromosomes and their role in genetic disorders. Dr. Renu Bajaj, Associate Medical Director of Genomics at HNL Lab Medicine, is at the forefront of this transformation. In this article, we’ll explore how Dr. Bajaj’s department is leveraging AI to automate slide reading for chromosome analysis and Fluorescence In Situ Hybridization (FISH).

Chromosome Analysis and Karyotyping

Chromosomes are the structures in our cells that contain our genetic information. Any anomalies in the number or structure of these chromosomes can serve as indicators of potential diseases. By examining chromosomes, through techniques like karyotyping, pathologists and doctors can identify genetic irregularities or mutations associated with health conditions.

During karyotyping, a sample of cells is carefully examined under a microscope. The chromosomes are then arranged and organized, creating a visual map of genetic material. This map, called a karyotype, allows technologists to identify any abnormalities or irregularities in chromosomes leading to the diagnosis and prognosis of the disease.

Automating Karyotyping

The journey into the world of AI in cytogenetics begins with MetaSystems, an advanced imaging system designed specifically for genetics and pathology. Dr. Bajaj highlights its role in automating karyotyping and chromosome analysis, a critical aspect of cytogenetics. She explains that previously, the process involved utilizing cameras on microscopes and manually processing film rolls in a dark room for each karyotype, which was time-consuming and labor-intensive.

“Years ago,” explains Dr. Bajaj, “everyone had to sit under the microscope and manually move slides to find metaphases, capture them, cut each one, arrange them, and match them. Technologists invested significant time in cutting, organizing, and confirming chromosome placements. This could take one to two hours per case. However, with MetaSystems and its built-in AI, the slides are now scanned, and metaphases are automatically captured and karyotyped with over 95% accuracy.”

Dr. Bajaj underscored that the software, integrating deep neural network (DNN) technology, enhances efficiency by automating the cutting process and utilizing AI for accurate chromosome placement. The software not only diminishes manual efforts but also elevates result quality, ultimately reducing the turnaround time for karyotyping cases.

AI Efficiency with Human Nuance

The use of AI is a leap in efficiency for the field of cytogenetics. While the AI streamlines the process, Dr. Bajaj emphasizes that it doesn’t replace skilled technologists. They remain vital for the validation and interpretation of results, especially in complex cases.

AI algorithms, like those integrated into karyotyping software, excel at automating tasks such as identifying and placing chromosomes. However, as Dr. Bajaj explains, the nuanced understanding required to discern subtle abnormalities, complex patterns, or rare genetic variations necessitates the expertise of experienced human professionals. She emphasizes, “Experienced lab scientists bring a depth of knowledge and critical thinking to the interpretation process, ensuring accurate diagnosis and reducing the potential for misinterpretation.”

Their role involves validating AI-generated results, cross-referencing findings with clinical information, and making informed decisions based on their comprehensive understanding of genetic patterns and anomalies. This collaborative approach, combining the efficiency of AI with the expertise of lab scientists, ensures a more reliable and accurate analysis of karyotypes, ultimately enhancing the quality of patient care and diagnostic outcomes.

Fluorescence In Situ Hybridization (FISH)

Karyotyping and FISH are both methods used to examine our genetic material, but they differ in their focus and approach. Karyotyping is like taking a snapshot of all your chromosomes (whole genome) at once, allowing doctors to see the big picture of their structure and number. It’s like looking at a complete map of your genetic landscape. On the other hand, FISH is like zooming in on specific areas of that map. It uses fluorescent tags to target and visualize particular genes or regions of chromosomes, providing detailed information about specific genetic abnormalities. So, while karyotyping gives an overall view of your chromosomes, FISH is a more focused technique, helping doctors pinpoint and analyze specific genetic details.

While chromosome analysis and karyotyping has seen a substantial AI integration, FISH is a bit different. Dr. Bajaj explains that FISH analysis doesn’t currently have built-in AI, as it’s a relatively newer technology. However, she foresees its gradual integration in the future. “FISH technology didn’t even exist before. So, while it doesn’t have built-in AI at the moment, it’s likely to evolve as AI technology advances and gains more experience in this field. Previously, the process of making tables, manually counting cells, and calculating ratios was time consuming. Fortunately, this imaging system has a capability to scan the slides and the software can do these counts automatically, reducing this long process and making it more precise.”

In FISH analysis, the fluorescent signals on slides need to be visually inspected by technologists. While machines assist in classifying cells based on their signal patterns, human validation remains essential. The future of FISH analysis holds promise, but it might take some years for AI to play a more prominent role in this aspect of cytogenetics.

Cytogenetics at HNL Lab Medicine

The incorporation of AI into cytogenetics has revolutionized the way we study chromosomes and genetic abnormalities. Dr. Renu Bajaj’s insights shed light on how MetaSystems has automated chromosome analysis, making it more efficient and accurate than ever before. While AI is a powerful tool, it’s not a substitute for the expertise of HNL Lab Medicine technologists, especially in complex cases. As for FISH analysis, the technology is still relatively new in the context of AI integration. The promise of AI’s involvement in FISH analysis is on the horizon, and as AI continues to evolve, it is expected to play a more significant role in this field.

The automated features provided by MetaSystems contribute to quicker turnaround times for results, enabling faster and more precise diagnoses. Through the strategic integration of advanced technologies, HNL Lab Medicine is at the forefront of delivering high-quality diagnostic services, ensuring that patients receive timely and accurate information for effective medical interventions, ultimately improving the overall standard of patient care. The marriage of AI and cytogenetics represents an exciting journey toward enhanced accuracy, efficiency, and the potential for more breakthroughs in genetic research and diagnostics. With experts like Dr. Renu Bajaj at the helm, the future of cytogenetics looks promising and full of potential.