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Genomics, bio specimens, and other biological data: Current status and future directions

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Recent technological advances have allowed for a more sophisticated understanding of the biology of tumors and an ability to generate massive data at an unprecedented pace. These advances now routinely… Click to show full abstract

Recent technological advances have allowed for a more sophisticated understanding of the biology of tumors and an ability to generate massive data at an unprecedented pace. These advances now routinely allow for the assessment of genomics (DNA mutations and copy number alterations), transcriptomics (RNA expression levels), methylation profiles, and protein and phosphoprotein abundance to unravel the biologic underpinnings of various types of cancers. This information is now being combined with various imaging modalities, histopathology, clinical and patient characteristics, and treatment information to allow for a systems-based approach to understanding and characterizing cancer. With these advances, however, new challenges have emerged in how to acquire, store, catalog, analyze, and integrate these varying types of biologic data. This article will review examples of successful integration of genomic and biologic data, the current state of this research, issues surrounding access, extraction, collection, and curation of the genomic and biospecimens data. It will also suggest recommendations for standardizations and next steps to improve data availability. With the completion of the human genome project and the subsequent inception and completion of The Cancer Genome Atlas (TCGA) project, the acquisition, storage, and subsequent availability of large-scale genomic, transcriptomic, and proteomic data has led to an accelerated pace of discovery and understanding of cancer. These data have led to the development of new, effective targeted agents, and ascertainment of this genomic and biospecimen data is now making its way into routine clinical practice. Indeed, multiple groups have recently published the findings of molecular tumor boards and these molecular data are now beginning to be used, including in the NCI-sponsored MATCH and IMPACT trials, the AACR-sponsored GENIE project, and ASCOsponsored TAPUR trial, to inform clinical decision making as it relates to disease prognosis, effectiveness, therapeutic benefit, and mechanisms of treatment resistance. Other examples of the successful capture and annotation of genomic and biospecimen data include the Encyclopedia of DNA elements (ENCODE) project, and the International Cancer Genome Consortium (ICGC) project. While the benefits of these molecular data in areas such as targeted drug development are increasingly clear, it is utility to predict radiation treatment toxicity and therapeutic response remains uncertain. While there are many reasons for this disparity, multiple initiatives including the REQUITE, RAPPER, Gene-PARE, RadGenomics, and canSAR projects are currently underway to collect, catalog, and make available this information. The success of these radiation-associated databases, and subsequent projects, however, will depend on the ability for these databases to be accessed, annotated, integrated, and updated.

Keywords: specimens biological; genomics bio; bio specimens; cancer; data current; biological data

Journal Title: Medical Physics
Year Published: 2018

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