Authors: Carlo Bifulco, M.D., CMO, Providence Genomics, medical director, Translational Molecular Pathology and Molecular Genomics, Earle A. Chiles Research Institute, a division of Providence Cancer Institute
Brian D. Piening, Ph.D., technical director, Providence Molecular Genomics Laboratory, associate member, Cancer Immuno-Genomics Laboratory, Earle A. Chiles Research Institute
From 2019 through 2021, we conducted a study at Providence Cancer Institute on the impact of removing testing barriers to comprehensive genomic profiling (CGP) for patients with advanced cancers. The motivation for the study stemmed from the existing inadequacies in the delivery of consistent, timely, and comprehensive genomic testing for cancer patients.
To assess how consistent CGP might affect outcomes for patients with advanced disease, we developed a reflex testing protocol at Providence where testing was routinely ordered by pathologists at the time of a patient’s diagnosis.
While small panel testing, encompassing 50 genes or fewer, may pinpoint specific gene alterations, CGP discerns four classes of genomic alterations across a wider gene spectrum, uncovering a wealth of genomic information that could be pivotal for understanding complex tumor behaviors and tailoring personalized treatment strategies. Employing CGP not only helps identify a wider range of gene mutations in a patient, which can influence biomarker-guided clinical decisions, it also minimizes a trial-and-error approach to finding a precision treatment and clinical trials.
The results of the study showed that patients who received CGP-guided precision therapy had significantly higher survival outcomes in a reflex testing population. In June, we presented the study abstract at the 2023 American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago.
AI technology aids study
Over the course of the study, 1,423 advanced cancer patients met the established criteria. The median age of patients was 66 years, 53% were female and 82% were white. The three most tested tumor types were non-small cell lung cancer (22%), colorectal cancer (16%) and breast cancer (12%).
The testing was comprehensive, aimed at identifying a broad spectrum of actionable mutations within patients' tumors, and was performed at no cost to patients. Stage IV patients were followed for more than 12 months as we assessed the time it took to get treatment, the therapy selection and their impact on individual’s overall survival.
Therapies were stratified based on the presence of biomarkers associated with approved targeted therapies, presence of biomarkers for immunotherapies, and/or therapies that were guideline-based and not associated with a specific biomarker.
To quickly match patients to treatments and clinical trials based on their tumor genomic profile, we implemented novel natural-language processing. Advanced sequencing technology allowed us to quickly generate large amounts of data on a cancer patient’s tumor genome at relatively low cost. At the same time, we leveraged cutting-edge AI technology to match patients' information with studies not just limited to Providence's available clinical trials, but also encompassing those conducted across the U.S.
Shaping the future of cancer care
As genomics continues to advance at a dizzying pace, we expect profiling to extend beyond tumors to include hereditary genetics. Molecular tumor boards will play an increasingly significant role, as well. Currently, the virtual Molecular Tumor Board (MTB) at Providence meets across the system to review patient profiles. We use a cloud-based platform to share genomic findings with experts in oncology, anatomic and molecular pathology, genomics, cancer genetics, pharmacology and clinical research. Twice a month the board discusses clinical questions and makes precision therapeutic recommendations for variants identified in patients’ tumors, and clinical trial considerations.
Coinciding with the MTB are other virtual tumor boards within Providence that meet regularly to review cancer diagnoses and make treatment recommendations for patients. Although similar, these boards do not review patients’ genomic profiling. We anticipate this will change in the next decade so that all tumor boards incorporate experts who will focus on patients’ genomic profiles and precision treatment options. In the future, novel technologies, such as spatial omics, may significantly contribute to personalized medicine by elucidating the spatial organization and interactions of cells within tissues, thereby enabling a more nuanced understanding and targeted treatment of complex diseases.
Overcoming barriers to CGP
The consensus in scientific and clinical communities is that genomic testing is essential to properly treating patients with cancer. Yet, while it is becoming a standard-of-care protocol in some regions and centers, many people face infrastructure barriers to testing. Some barriers may be due to limited access to testing capabilities in an area or region, or lack of comprehensive medical coverage through Medicare and private health insurance.
But recent developments in state legislative efforts are reshaping coverage for patients and thereby helping improve pathways for access to genomic testing. Leading the effort is the American Cancer Society Cancer Action Network (ACS CAN), which has partnered with several organizations and cancer centers across the country to pass state legislation that makes coverage for comprehensive genomic testing possible for all patients.
Although Oregon is not one of the states, currently there are 12 states that have passed legislation. In 2023 so far, 10 other states have introduced legislation. We anticipate more states will join the movement to legislate coverage for genomic testing.
But legislation is only one tool to removing infrastructure barriers to testing. Collaboration across multidisciplinary teams and centers, and ongoing education for patients and providers are essential to establishing consistent access to testing. Providence is committed to this effort, in addition to ongoing research to improve treatment and survival of people with cancer.
Genomic sequencing at Providence
The Providence Molecular Genomics Laboratory is among the largest molecular genomics sequencing facilities in the Pacific Northwest. The lab uses next generation sequencing technology to simultaneously test many genomic biomarkers from small tumor tissue samples in a matter of days.
The information provides a molecular profile to help experts recommend a targeted therapy or immunotherapy as either a standard-of-care treatment or clinical trial for cancer patients.
Learn more about Providence Molecular Genomics Laboratory and our genomics program.
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