1. Chmielecki, Juliann PhD

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The understanding of cancer is evolving rapidly from a disease of an organ to a more precise and complex disease of the genome. Today, physicians are increasingly enlisting precision medicine to help them treat cancers based on targeting specific genomic alterations driving tumor growth. In the quest to advance precision medicine and identify novel treatment approaches, comprehensive genomic profiling and access to genomic data are becoming increasingly more important for paradigm shifting approaches. Data from genomic profiling of clinical samples has the potential to accelerate the development of new targeted therapies; identify more patients who would respond to existing therapies; discover new cancer genes; and improve clinical trial efficiency, enrollment, and outcomes.

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Over the past 6 years, Foundation Medicine has created a robust cancer genomics knowledgebase that contains genomic information from nearly 90,000 real-world clinical samples that underwent profiling as part of standard clinical care. The dataset is evolving continuously, informed by every new tumor profiled with clinical assays. These assays assess cancer samples for all four classes of genomic alterations (i.e., base pair substitutions, copy number alterations, short insertions and deletions, and gene rearrangements and fusions) across cancer-related genes with the sensitivity and specificity required for clinical applications.


This comprehensive approach ensures each patient receives a complete genomic assessment of their tumor and advances the scientific understanding of molecular driver events through the identification of novel alterations and genomic changes that were not previously linked to specific types of cancer.


Sharing Cancer Data

Data exchange is a key component to making the benefits of precision medicine accessible to the global oncology community. Last month, Foundation Medicine released the genomic profiles from approximately 18,000 adult cancer samples to the National Cancer Institute's (NCI) Genomic Data Commons portal (GDC), a new unified data system to facilitate sharing of genomic and clinical data among researchers and physicians.


The GDC was launched in June 2016 as a core component of the National Cancer Moonshot and the Precision Medicine Initiative. The release of this HIPAA-compliant, de-identified information from real-world, pan-cancer clinical profiles more than doubles the size of NCI's GDC database. Researchers will have access to genomic variants and limited demographic data (gender, age, disease) for each sample, providing the global oncology community with a resource that can be applied to accelerate the research and development of targeted and immunotherapies to improve cancer treatment.


The collaboration with the NCI marks the second public release of genomic information. In March, the organization made its first ever release of genomic data from its knowledgebase by sharing the genomic profiles from over 1,200 pediatric tumors to help increase research and development of precision therapies to fight childhood cancers. The publicly available data set has received a substantial number of inquiries from hundreds of researchers around the world since its launch.


Improving Cancer Outcomes

The public release of genomic data sets, such as the adult and pediatric cohorts described above, directly support the National Cancer Moonshot and Precision Medicine initiatives that encourage collaboration and data sharing across the global oncology community. These national initiatives serve as catalysts for uniting the entire cancer community toward the common goal of improving cancer outcomes.


Data sharing and increased collaboration across public and private sectors will foster innovative research and support the discovery of novel innovations to fight cancer. Participation from industry, academia, advocacy, and other groups is essential for overcoming barriers to widescale adoption of precision medicine and driving paradigm shifting treatments for cancer patients.


JULIANN CHMIELECKI, PHD, is Director, Cancer Genomics, Foundation Medicine Inc.

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