In May, 2012, the NCI implemented The National Cancer Informatics Program to support the biomedical informatics needs of the cancer research community and to support research at a variety of levels, ranging from analysis of experiments performed by individual investigators to creating the enterprise infrastructure for large distributed cooperative trials, translational research, and large scale genomics research. The NCIP is chartered to develop a new vision for interoperable biomedical information systems, built on community-driven data standards to support the cancer research enterprise. At a high-level, the NCIP covers three component parts. These include: Clinical and Translational Research Informatics, Cancer Biology and Genomics Research Informatics, and Semantics and Interoperability. In addition, there is growing emphasis on data science and data sharing. Clinical and Translational Research Informatics Emphasis is on providing the NCI with informatics support where clinical informatics expertise is essential to the understanding and success of the project. In addition to providing support for clinical trials reporting, clinical trials data management, and general informatics support, we also maintain a relationship with regulatory and medical standards bodies such as the FDA, HL7 and CDISC to assist the NCI in regulatory compliance and assure that clients are able to leverage medical informatics standards as appropriate. Projects supported include: clinical trial portfolio management (Clinical Trials Reporting Program, Clinical Trials Reporting Office), clinical trials data management (C3D), clinical imaging (Cancer Imaging Program, The Cancer Imaging Archive), regulatory activities (participation in HL7, CDISC), and support for precision medicine (MATCH, Pediatric MATCH). Cancer Biology and Genomics Research Informatics NCIP provides bioinformatics and computational genomics analysis, training, and support for scientific software for intramural research projects. Coordination is provided for the Informatics Technology for Cancer Research (ITCR) extramural program. There is significant involvement with the NIH Big Data to Knowledge (BD2K) initiative, with several staff leading or participating in guiding the scientific goals of those programs. Other activities include support for the following NCI programs: TARGET, TCGA, CGAP and other data collections, and the Nano-informatics Working Group. Semantics and Interoperability The scope of this activity is to define, implement, and support community use of vocabulary and standards infrastructure and content, which enable data and system interoperability to support the cancer research endeavor, including: Enterprise Vocabulary Services o NCI Thesaurus (NCIt) and NCI Metathesaurus (NCIm) terminology, ontology, and mapping infrastructure supporting NCI and biomedical community projects and standards o Hosting other terminologies used by cancer community, e.g., CTCAE, MedDRA o Supporting value sets, extension, and mapping of terminologies for specific programs, e.g., CTRP, CTCAE, etc. Metadata Standards development, harmonization, curation, and services o Supporting Common Data Elements (CDEs), Case Report Forms (CRFs), questionnaires, and data dictionary services to support Clinical Trials, CTEP, CTCAE, etc. o Providing support and training for metadata developers and end users o Defining & Implementing Next-Generation Metadata Resources Participating in HHS-wide and broader standards activities o Active participation in standards efforts of strategic importance to NIH and NCI (e.g., FDA, CDISC, CFAST, NCPDP, WHO, MedDRA, HL7, ONC, ISO, IHE) o Engagement in NIH BMIC & BD2K initiatives Data Science and Data Sharing Particular emphasis is placed on support for genomic data management and sharing through collaboration on the NCI Genomic Data Commons (GDC) and direct support for the NCI Cancer Genomics Cloud Pilots (which are transitioning to NCI Cloud Resources.) This support is broadening to all aspects of cancer research data, initially focused on proteomics, and imaging in addition to genomics. NCIP is also establishing a Cancer Research Data Commons. This effort will provide the necessary infrastructure for both intramural and extramural programs to comply with NIH data sharing policies and will support the cancer research community in sharing and analyzing a diverse set of data to make new discoveries.
| Edmonson, Michael N; Zhang, Jinghui; Yan, Chunhua et al. (2011) Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM format. Bioinformatics 27:865-6 |
| Hesse, Bradford W; Croyle, Robert T; Buetow, Kenneth H (2011) Cyberinfrastructure and the biomedical sciences. Am J Prev Med 40:S97-102 |
| Greenblum, Sharon I; Efroni, Sol; Schaefer, Carl F et al. (2011) The PathOlogist: an automated tool for pathway-centric analysis. BMC Bioinformatics 12:133 |
| Efroni, Sol; Ben-Hamo, Rotem; Edmonson, Michael et al. (2011) Detecting cancer gene networks characterized by recurrent genomic alterations in a population. PLoS One 6:e14437 |
| Zhang, Jinghui; Mullighan, Charles G; Harvey, Richard C et al. (2011) Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood 118:3080-7 |
