John Theurer Cancer Center and Genetic Testing Cooperative Researchers Demonstrate Value of Genomic Sequencing and Artificial Intelligence to Improve Cancer Diagnosis 

Reliability shown in accurate diagnosis of blood cancer subtypes and solid tumors

Investigators from Hackensack Meridian John Theurer Cancer Center (JTCC), part of the NCI-designated Lombardi Comprehensive Cancer Center at Georgetown University and Genetic Testing Cooperative Inc. (GTC), published a groundbreaking study in The American Journal of Pathology demonstrating the reliability of combining next-generation sequencing and artificial intelligence to accurately diagnose subtypes of blood cancers and solid tumors. 

The JTCC and GTC researchers investigated a targeted transcriptome and artificial intelligence to diagnose blood cancers and solid tumors. Several key findings:

• Twenty subtypes of hematologic neoplasms and 24 subtypes of solid tumors were identified. Machine learning was highly accurate for distinguishing between different diagnoses.

• The data indicate that targeted transcriptome analysis combined with artificial intelligence is highly useful for diagnosing and classifying various cancers. 

• These results open the door for supplementing and eventually replacing current diagnostic technologies with a new approach that, in addition to more accurate diagnosis, should eventually lead to real-time disease monitoring during therapy to better guide care.

An accurate diagnosis of cancer is essential to ensure a patient receives the most effective therapy. But numerous studies have shown that errors in the diagnosis and classification of cancers continue to be a significant issue in current clinical practice. Relying only on the expertise of a pathologist and the way a tumor looks under a microscope can lead to significant discrepancies in cancer identification because of the subjective nature of the diagnostic process. This study provides a potential new, highly reliable diagnostic tool.

Learn more about innovative cancer treatments at Hackensack University Medical Center.