IBM Watson Health and Quest Diagnostics announced the launch of IBM Watson Genomics from Quest Diagnostics, a new service that helps advance precision medicine by combining cognitive computing with genomic tumour sequencing. Memorial Sloan Kettering Cancer Center (MSK) will supplement Watson's corpus of scientific data with OncoKB, a precision oncology knowledge base to help inform precision treatment options for cancer patients.

The launch marks the first time that Watson for Genomics has been made widely available to patients and physicians across the country. Quest Diagnostics, a leader in genomic sequencing and oncology diagnostics that serves half the nation's physicians and hospitals, extends these advanced capabilities to thousands of the country's community oncologists, who provide an estimated 70 per cent of cancer care in the United States. The Broad Institute of MIT and Harvard will provide additional genome sequencing capabilities as part of the collaboration.

The new service involves laboratory sequencing and analysis of a tumour's genomic makeup to help reveal mutations that can be associated with targeted therapies and clinical trials. Watson then compares those mutations against relevant medical literature, clinical studies, pharmacopoeia and carefully annotated rules created by leading oncologists, including those from MSK. Watson for Genomics ingests approximately 10,000 scientific articles and 100 new clinical trials every month.

"The beauty of Watson is that it can be used to dramatically scale access to knowledge and scientific insight, whether a patient is being treated in an urban academic medical centre or a rural community clinic," said John Kelly III, PhD, senior vice president, IBM Research and Cognitive Solutions. "Through this collaboration with the cancer community's leading clinical and pathology experts, thousands of more patients can potentially benefit from the world's growing body of knowledge about this disease."

Bolstering the corpus of data Watson uses, MSK will provide OncoKB, a database of clinical evidence that will help Watson uncover treatment options that could target the specific genetic abnormalities that are causing the growth of the cancer. Comparison of literature that may take medical experts weeks to prepare can now be completed in significantly less time.

"Precision medicine is changing the way we treat cancer and giving new hope to people living with the disease," said Jay G. Wohlgemuth, M.D., chief medical officer and senior vice president of research, development and medical, Quest Diagnostics. "However, access to genomic sequencing and tumour analysis required to determine appropriate precision medicine treatments for a patient can be a challenge. This service combines Quest's state-of-the-art tumour analysis and national access with the cognitive computing of IBM's Watson and the deep cancer treatment expertise of MSK. This is a powerful combination that we believe it will leap frog conventional genomic services as a better approach for identifying targeted oncology treatments."

The efficacy of cancer therapy often depends on the type of gene mutations occurring in the cancer tumour. Many of the latest therapies are designed to work by targeting tumours with a specific genetic makeup. A therapy that is effective for one type of cancer may in fact be efficacious for many others that share similar mutations. But these mutations vary for each individual and can even change during treatment. Correlating them to the appropriate treatments requires genomic sequencing expertise as well as information from knowledge bases, which must be routinely updated to account for rapidly evolving scientific discoveries, available drug therapies and, for patients for whom no therapy is indicated, and appropriate clinical trials.

The new service helps close these gaps: To access Watson's evidence-based report, the treating oncologist or other physician will send a patient's solid tumour biopsy tissue to Quest Diagnostics, where pathologists will prepare the tissue sample for genomic sequencing. Scientists at Quest will then sequence the treatment-associated genes using advanced next-generation sequencing technologies and feed the genetic file into Watson. Watson will then use the sequenced genetic data and compare those data against massive bodies of clinical, scientific and pharmacological databases to help uncover potential therapeutic options that match the patient's tumour mutations. A Quest pathologist will review and validate the results and prepare a report to send back to the treating physician.

"We now know that genetic alterations are responsible for many cancers, but it remains challenging for most clinicians to deliver on the promise of precision medicine since it requires specialized expertise and a time-consuming interpretation of massive amounts of data," said Paul Sabbatini, MD, Deputy Physician-in-Chief for Clinical Research, Memorial Sloan Kettering Cancer Center. "Through this collaboration, oncologists will have access to MSK's expertly curated information about the effects and treatment implications of specific cancer gene alterations. This has the power to scale expertise and help improve patient care."

Watson is the first commercially available cognitive computing capability representing a new era in computing. The system, delivered through the cloud, analyzes high volumes of data, understands complex questions posed in natural language, and proposes evidence-based answers. Watson continuously learns, gaining in value and knowledge over time, from previous interactions.

Quest Diagnostics empowers people to take action to improve health outcomes. Derived from the world's largest database of clinical lab results, our diagnostic insights reveal new avenues to identify and treat disease, inspire healthy behaviours and improve health care management.