Study Demonstrates Potential for Artificial Intelligence and Whole-Genome Sequencing to Scale Access to Precision Medicine

Key Points

  • Watson was able to provide a report of potential clinically actionable insights within 10 minutes, compared to 160 hours of human analysis and curation required to arrive at similar conclusions for the patient. 
  • Whole-genome sequencing identified more clinically actionable mutations than the current standard of examining a limited subset of genes, known as a targeted panel.

In a study published by Wrzeszczynski et al in Neurology: Genetics, researchers at the New York Genome Center (NYGC), The Rockefeller University, and IBM illustrated the potential of IBM Watson for Genomics to analyze complex genomic data from state-of-the-art sequencing of whole genomes. The study compared multiple assays used to analyze genomic data from a glioblastoma patient’s tumor cells and healthy cells.

Study Findings

The proof-of-concept study used a beta version of Watson for Genomics technology to help interpret whole-genome sequencing data for one patient. In the study, Watson was able to provide a report of potential clinically actionable insights within 10 minutes, compared to 160 hours of human analysis and curation required to arrive at similar conclusions for the patient. 

The study also showed that whole-genome sequencing identified more clinically actionable mutations than the current standard of examining a limited subset of genes, known as a targeted panel. Whole-genome sequencing currently requires significantly more manual analysis, so combining this method with artificial intelligence could help doctors identify potential therapies from whole-genome sequencing for more patients in less time.

Interpretation of genome-sequencing data is a significant challenge because of the volume of genomic data to sift through, as well as the large, growing body of research on molecular drivers of cancer and potential targeted therapies. This informatics challenge is often a critical bottleneck when dealing with deadly cancers such as glioblastoma, with a median survival of less than 15 months following diagnosis. 

“Our partnership has explored cutting-edge challenges and opportunities in harnessing genomics to help cancer patients. We provide a very first insight into two critical issues: what clinical values can be extracted from different commercial and academic cancer genomic platforms, and how to think about scaling those values,” noted the study’s principal investigator, Robert Darnell, MD, PhD, Robert and Harriet Heilbrunn Professor and Senior Attending Physician at The Rockefeller University and Founding Director of the New York Genome Center.

In the study, NYGC researchers analyzed DNA and RNA from a glioblastoma tumor specimen and DNA from the patient’s normal blood and then compared potentially actionable insights to those from a commercial targeted panel that had previously been performed. The whole genome and RNA data were analyzed by a team of bioinformaticians and oncologists at NYGC as well as a beta version of IBM Watson for Genomics, an automated system for prioritizing somatic variants and identifying potential therapies.

The beta version of Watson for Genomics processed abstracts, and in some cases, full text articles from PubMed, a comprehensive source of more than 27 million citations for biomedical literature. With this information, NYGC and Watson collaborated to identify gene alterations that can be therapeutically targeted.

‘Strong Potential’

“This study documents the strong potential of Watson for Genomics to help clinicians scale precision oncology more broadly,” said Vanessa Michelini, Watson for Genomics Innovation Leader, IBM Watson Health. “Clinical and research leaders in cancer genomics are making tremendous progress in the opportunity to bring precision medicine to more cancer patients, but genomic data interpretation is a significant obstacle, and that’s where Watson can help.” 

This study, conducted from 2015 to 2016, utilized a beta version of Watson for Genomics. Watson for Genomics is now commercially available for genomic data interpretation through partnerships with Quest Diagnostics and Illumina, or as a cloud-based software for clinicians and researchers. It is also used in clinical practice at the VA Health System.

The content in this post has not been reviewed by the American Society of Clinical Oncology, Inc. (ASCO®) and does not necessarily reflect the ideas and opinions of ASCO®.


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