IBM Watson Health and Quest Diagnostics’ Bid to Advance Clinical Sequencing Informatics

IBM Watson Health and Quest Diagnostics’ Bid to Advance Clinical Sequencing Informatics

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With next-generation sequencing (NGS), research scientists and clinicians are provided abundant raw data, but also too often deficient analytics software also known as informatics. Vendor-specific sequencing informatics software has limited access to third-party research discoveries in genomics. Sequencing analytics already in the clinical field may struggle to remain current with quickly evolving understanding of the genomic, epigenomic and transcriptomic underpinnings in cancer. The recently launched IBM Watson Genomics from Quest Diagnostics service is capable of systemically integrating assorted clinical trial results and research discoveries. The updated and adaptive informatics platform may prove significant not only to the cancer testing services market in the hands of Quest Diagnostics, but the development of clinical informatics at large.

With the recent launch of their cancer sequencing service, IBM Watson Health and Quest Diagnostics are wading into one of the greatest challenges for clinical sequencing – how to maintain clinical-grade precision and accuracy applying research findings subject to potentially frequent reinterpretation and enhancement. IBM’s solution is to use machine learning to routinely collect and digest datasets from clinical trials and medical literature and then integrate them into an existing, oncologist-curated knowledge base. Collaboration and research sharing is a majority priority of regulators such as the U.S. Food and Drug Administration (FDA) and a growing necessity for highly complex research into cell systems biology. For IBM and Quest Diagnostics’ service, Memorial Sloan Kettering (MSK) Cancer Center provides its OncoKB knowledge base. Sequencing capabilities will also be provided by Harvard and MIT (Broad Institute). Community oncologists served by Quest will effectively be linked to resources across research and molecular oncology medicine.

In research, sequencing data analytics or bioinformatics software is written and updated based on the latest discoveries. Cloud-based, networked and otherwise shared data is available, but private research often means sequence-based knowledge bases are siloed.  In clinical settings, bioinformatics or derivative clinical informatics software is used often to identify only a subset of target sequences or variant genes. The scope of these performed variant calls is often narrow for informatics software contained in a clinically approved sequencer.

IBM Watson-powered informatics offered as part of Quest sequencing will be much more open-ended than informatics offered as part of clinical instrument platforms. The two companies’ announcement notes that a wide range of variants could be captured for each gene in the sequencing run implying service applicability to genome and exome sequencing. Patient results from the service could indicate market-available targeted therapeutics and potential eligibility under ongoing clinical trials. Integration of new data into IBM informatics would ensure that the most up-to-date variant calls and indications are available. While most of the market for cancer lab developed tests (LDTs) is with targeted tests, Quest Diagnostics’ service could prove uniquely effective for the comprehensive profiling of tumor tissue samples. The service is meant to empower community oncologists to integrate sequencing into care while avoiding the limitations of packaged clinical informatics or required expertise to independently interpret genomic data.