Glossary Of Terms
This glossary is included to provide instruction as to how terms used in the NCI Best Practices for Biospecimen Resources should be interpreted. Wherever possible, standardized definitions from Federal documents and/or the NCI Thesaurus were used. 11 Where such sources were not available or appropriate, definitions were selected from widely used texts, such as Black’s Law Dictionary (8th ed.), Taber’s Cyclopedic Medical Dictionary (20th ed.), Merriam-Webster’s Online Dictionary; reports specific to biospecimen resources, such as ISBER Best Practices for Repositories, Second Edition (2008), and RAND Corporation’s Case Studies of Existing Human Tissue Repositories (2003); or relevant Web sites such as the CDC Web site. The citation “NCI Best Practices working definition” refers to definitions drafted specifically for this document by the NCI in consultation with appropriate experts. In some cases, two definitions may be listed for a single term to convey both a general and a biospecimen resource-specific meaning or to provide definitions from two Federal regulations. Where two definitions are listed, the first definition contains the meaning most relevant to the NCI Best Practices.
A collaborative effort of the NCI Office of Communications and the NCI Center for Bioinformatics to standardize terminology within the NCI, available at http://ncit.nci.nih.gov/.
Access. The right to obtain or make use of or take advantage of something (as services or membership); the right to enter (NCI Thesaurus).
Aerosol. A fine mist or spray that contains minute particles (Centers for Disease Control and Prevention Special Pathogens Branch, Glossary of Terms, http://www.cdc.gov/ncidod/dvrd/spb/mnpages/
Age of majority. The age — usually 18 or 21 years — at which a person achieves full legal rights to make one’s own decisions, enter into contracts, and be held personally accountable for the consequences of one’s actions (Taber’s Medical Dictionary).
Aliquot. 1. Pertaining to a portion of the whole; any one of two or more samples of something, of the same volume or weight (NCI Thesaurus). 2. A process wherein a biospecimen is divided into separate parts which are typically stored in separate containers as individual samples (ISBER 2008).
Analyte. A substance or chemical constituent that is determined in an analytical procedure (ISBER 2008).
Annotation. Explanatory information associated with a biospecimen (NCI Best Practices working definition).
Assay. A qualitative or quantitative analysis performed to determine the amount of a particular constituent in a biospecimen (adapted from NCI Thesaurus).
Associated data. Any factual information affiliated with a biospecimen, including but not limited to research, phenotypic, clinical, epidemiologic, and biospecimen-resource procedural data (NCI Best Practices working definition).
Audit. 1. A documented review of procedures, records, personnel functions, equipment materials, facilities, and/or vendors to evaluate adherence to written standard operating procedures or government laws and regulations (ISBER 2008). 2. To perform an audit (Merriam-Webster’s Online Dictionary).
Barcode. A machine-readable representation of information in a visual format on a surface (NCI Thesaurus).
Best practice. A technique, process, or protocol that has been shown or is otherwise believed to be state-of-the-science in that it provides superior results to those achieved by any other technique, process, or protocol. Best practices may evolve as new evidence emerges. While best practices are consistent with all applicable ethical, legal, and policy statutes, regulations, and guidelines, they differ from guidance, policy, or law in that they are recommendations and are neither enforced nor required (NCI Best Practices working definition).
Biohazard. A biological or chemical substance that exerts toxic or pathologic effects on living entities (NCI Thesaurus).
Biomarker. A biological molecule found in blood, other body fluids, or tissues that is a sign of a normal or abnormal process, or of a condition or disease. A biomarker may be used to see how well the body responds to a treatment for a disease or condition. Also called molecular marker and signature molecule (NCI Online Cancer Dictionary).
Biomolecule. An organic molecule and especially a macromolecule (as a protein or nucleic acid) in living organisms (Merriam-Webster’s Online Dictionary).
Biorepository. An organization, place, room, or container (a physical entity) where biospecimens are stored. In the context of the NCI Best Practices, only biorepositories containing human specimens intended for research purposes (research biorepositories) are addressed. The physical structure, policies, biospecimens, and data contained within it are defined collectively as a biospecimen resource, defined below (NCI Best Practices working definition).
Biosafety. Safety with respect to the effects of biological research on humans and the environment (Merriam-Webster’s Online Dictionary).
Biosafety level. Specific combinations of work practices, safety equipment, and facilities, which are designed to minimize the exposure of workers and the environment to infectious agents. Biosafety level 1 applies to agents that do not ordinarily cause human disease. Biosafety level 2 is appropriate for agents that can cause human disease, but whose potential for transmission is limited. Biosafety level 3 applies to agents that may be transmitted by the respiratory route which can cause serious infection. Biosafety level 4 is used for the diagnosis of exotic agents that pose a high risk of life-threatening disease, which may be transmitted by the aerosol route and for which there is no vaccine or therapy (Centers for Disease Control and Prevention Special Pathogens Branch, Glossary of Terms, http://www.cdc.gov/ncidod/dvrd/spb/mnpages/glossary.htm).
Biospecimen. A quantity of tissue, blood, urine, or other human-derived material. A single biopsy may generate several biospecimens, including multiple paraffin blocks or frozen biospecimens. A biospecimen can comprise subcellular structures, cells, tissue (e.g., bone, muscle, connective tissue, and skin), organs (e.g., liver, bladder, heart, and kidney), blood, gametes (sperm and ova), embryos, fetal tissue, and waste (urine, feces, sweat, hair and nail clippings, shed epithelial cells, and placenta). Portions or aliquots of a biospecimen are referred to as samples (NCI Best Practices working definition).
Biospecimen resource. A collection of human specimens and associated data for research purposes, the physical entity in which the collection is stored, and all associated processes and policies. Biospecimen resources vary considerably, ranging from formal institutions to informal collections in a researcher’s freezer (NCI Best Practices working definition).
Biospecimen resource governance. The set of authorities, processes, and procedures guiding key operational decisions made within the resource. Governance affects access to biospecimens as well as custodial relationships and responsibilities and should be part of the resource’s general custodianship plan (NCI Best Practices working definition).
Biospecimen resource informatics system. The software, hardware, documentation, support, operating procedures, and training necessary to annotate, track, and distribute biospecimens within a biospecimen resource or resources (NCI Best Practices working definition).
Bloodborne pathogen. Pathogenic microorganisms that are present in human blood and can cause disease in humans. These pathogens include, but are not limited to, hepatitis B virus and human immunodeficiency virus (Occupational Safety and Health Administration Bloodborne Pathogen Standards, 29 CFR § 1910.1030).
cancer Biomedical Informatics Grid (caBIG) compatibility. Refers to meeting caBIG requirements. To aid in the creation of software that will be able to interoperate within the caBIG program, a set of compatibility guidelines was developed that spells out requirements for interoperability in areas of Interface Integration, Vocabularies/Terminologies and Ontologies, Information Models and Data Elements. Systems that meet the requirements are said to be “caBIG compatible.”
Capability Maturity Model Integration (CMMI). A process improvement approach that provides organizations with the essential elements of effective processes. It can be used to guide process improvement across a project, a division, or an entire organization. CMMI helps integrate traditionally separate organizational functions, set process improvement goals and priorities, provide guidance for quality processes, and provide a point of reference for appraising current processes (Carnegie Mellon® Software Engineering Institute CMMI Web site, http://www.sei.cmu.edu/cmmi/).
Certificate of Confidentiality. Issued by the National Institutes of Health (NIH) to protect identifiable research information from forced disclosure. It allows the Investigator and others who have access to research records to refuse to disclose identifying information on research participants in any civil, criminal, administrative, legislative, or other proceeding, whether at the Federal, State, or local level. Certificates of Confidentiality may be granted for studies collecting information that, if disclosed, could have adverse consequences for subjects or damage their financial standing, employability, insurability, or reputation (Certificates of Confidentiality Kiosk Web site, http://grants.nih.gov/grants/policy/coc/).
Clinical data. 1. Factual information (as measurements or statistics) or observations relating to the patient used as a basis for reasoning, discussion, or calculation pertaining to clinical trials, diagnosis, or treatment (NCI Best Practices working definition). 2. Data obtained through patient examination or treatment (NCI Thesaurus).
Clinical research. Research conducted with human subjects or on material of human origin in which an investigator directly interacts with human subjects; includes development of new technologies, study of mechanisms of human diseases, therapy, clinical trials, epidemiology, behavior and health services research (NCI Thesaurus).
Code of Federal Regulations (CFR). The annual collection of executive-agency regulations published in the daily Federal Register, combined with previously issued regulations that are still in effect (Black’s Law Dictionary). See https://www.gpo.gov/fdsys/browse/collectionCfr.action?collectionCode=CFR for more information.
Coded. Having (1) identifying information (such as name or Social Security number) that would enable the investigator to readily ascertain the identity of the individual to whom the private information or biospecimens pertain has been replaced with a number, letter, symbol, or combination thereof (i.e., the code); and (2) a key to decipher the code, enabling linkage of the identifying information to the private information or biospecimens (Office for Human Research Protections, Guidance on Research Involving Coded Private Information or Biological Specimens, http://www.hhs.gov/ohrp/policy/cdebiol.html).
Confidentiality. Treatment of information so that it is not divulged in ways that are inconsistent with the understanding of the original disclosure. Particularly, the ethical principle or legal right that a physician or other health professional will hold secret all information relating to a patient, unless the patient gives consent permitting disclosure (NCI Thesaurus).
Conflict of interest. 1. Exists when the designated official(s) reasonably determines that a Significant Financial Interest could directly and significantly affect the design, conduct, or reporting of the Public Health Service-funded research. Examples of conditions or restrictions that might be imposed to manage conflicts of interest include, but are not limited to: (1) Public disclosure of significant financial interests; (2) Monitoring of research by independent reviewers; (3) Modification of the research plan; (4) Disqualification from participation in all or a portion of the research funded by the Public Health Service; (5) Divestiture of significant financial interests; or (6) Severance of relationships that create actual or potential conflicts (42 CFR § 50.605). 2. Prejudice or bias that may occur when one’s impartiality is compromised by opportunities for personal gain or occupational advancement, or by the chance that one’s work may support a favored point of view or social agenda (Taber’s Medical Dictionary).
Consumables (a.k.a. disposables). Items that are liable to be used up or exhausted (NCI Best Practices working definition).
Cost recovery. Charging a sufficient amount for products and services such as biospecimen collection, processing, storage, and shipping to recover or partially recover operational fees incurred by a biospecimen resource (NCI Best Practices working definition).
Custodianship. The caretaking responsibility for biospecimens that extends from collection through research use. Responsible custodianship requires careful planning and transparent policies to ensure the long-term physical quality of the biospecimens, the privacy of human research participants, the confidentiality of associated data, and the appropriate use of biospecimens and data (NCI Best Practices working definition).
Data. A collection or single item of factual information, derived from measurement or research, from which conclusions may be drawn (NCI Thesaurus).
Demographic data. Information pertaining to the statistical characterization of human populations or segments of human populations; e.g., characterization by age, sex, race, or income (adapted from NCI Thesaurus).
Deviation. An intentional or unintentional event that is a departure from a procedure or a normal practice (ISBER 2008).
Discontinuation of participation. Discontinuation of a subject’s participation in research means discontinuation of one or more of the following activities described in the IRB-approved protocol: (1) interacting or intervening with the subject; (2) collecting individually identifiable private information about the subject without the investigator interacting or intervening with the subject; (3) collecting individually identifiable biological specimens originating from the subject without the investigator interacting or intervening with the subject; or (4) using or testing individually identifiable biological specimens already collected by the Investigator (Office for Human Research Protections, Guidance on Important Considerations for When Participation of Human Subjects in Research Is Discontinued, http://archive.hhs.gov/ohrp/requests/200811guidance.html).
Disposition. Final destination of biospecimens (ISBER 2008).
Distribution. A process that includes receipt of request for samples, selection of appropriate samples, and final inspection, in conjunction with subsequent shipment and delivery of samples to another biospecimen resource, biospecimen collection center, or laboratory (NCI Best Practices working definition).
End user. 1. A health care practitioner, scientist, or laboratory staff member who performs an appropriate procedure, test, or archival function (ISBER 2008). 2. The ultimate consumer of a finished product (Merriam-Webster’s Online Dictionary).
Epidemiologic. Of or relating to epidemiology, the study of the causes, incidence, and distribution of disease in the population and its application for prevention or control (NCI Thesaurus).
Evaluation. Systematic, objective appraisal of the significance, effectiveness, and impact of activities or condition according to specified objectives and criteria (NCI Thesaurus).
Extramural. External to the National Institutes of Health (NCI Best Practices working definition).
Genomics. The study of the complete genetic complement of an organism or organ (Taber’s Medical Dictionary).
Honest broker. An individual, organization, or system acting for, or on behalf of, a covered entity to collect and provide health information to research investigators in such a manner whereby it would not be reasonably possible for the investigators or others to identify the corresponding patients-subjects directly or indirectly. The honest broker cannot be one of the investigators. The information provided to the investigators by the honest broker may incorporate linkage codes to permit information collation and/or subsequent inquiries (i.e., a “re-identification code”); however, the information linking this reidentification code to the patient’s identity must be retained by the honest broker and subsequent inquiries are conducted through the honest broker (NCI Thesaurus).
Human research participant. See Human subject.
Human subject. A living individual about whom an investigator (whether professional or student) conducting research obtains (1) data through intervention or interaction with the individual or (2) identifiable private information (45 CFR § 46.102(f)).
Identifiable. The identity of the subject is or may readily be ascertained by the investigator or associated with the information (45 CFR § 46.102(f)).
Informatics. An occupational discipline which unites information science with computer science. It is concerned with the development of techniques for the collection and manipulation of data, and the use of such data (NCI Thesaurus).
Informed consent. A decision to participate in research, taken by a competent individual who has received the necessary information; who has adequately understood the information; and who, after considering the information, has arrived at a decision without having been subjected to coercion, undue influence or inducement, or intimidation (Council for International Organizations of Medical Sciences [CIOMS]. International Ethical Guidelines for Biomedical Research Involving Human Subjects. “Guideline 4: Individual Informed Consent” ).
Infrastructure. The basic facilities, equipment, or underlying framework that are necessary for a system or organization to function (NCI Thesaurus).
Institutional review board (IRB). A specially constituted review body established or designated by an entity to protect the rights and welfare of human subjects recruited to participate in biomedical or behavioral research. The relevant regulatory requirements for an IRB are provided at 45 CFR Part 46.107-109 and 21 CFR 56 (Trans-NIH Bioethics Committee Framework Guidelines).
Intellectual property. A commercially valuable product of the human intellect, in a concrete or abstract form, such as a copyrightable work, a protectable trademark, a patentable invention or a trade secret (Black’s Law Dictionary).
Invention. Any art or process (way of doing or making things), machine, manufacture, design, or composition of matter, or any new and useful improvement thereof, or any variety of plant, which is or may be patentable under the patent laws of the United States (U.S. Patent and Trademark Office, Glossary of Terms, http://www.uspto.gov/main/glossary/index.html#i).
Inventory. 1. A detailed, itemized list, report, or record of samples in a biospecimen resource, especially a periodic survey of all stored biospecimens (NCI Best Practices working definition). 2. The act or process of taking an inventory (Merriam-Webster’s Online Dictionary).
Label. Any written, printed, or graphic material on or affixed to a biospecimen container or package (ISBER 2008).
Longitudinal data. Data in which the same units are observed over multiple time periods (U.S. Department of Labor, Bureau of Labor Statistics, Glossary, http://stats.bls.gov/bls/glossary.htm).
Material transfer agreement. An agreement that governs the transfer of tangible research materials and data between two organizations, when the recipient intends to use it for his or her own research purposes. It defines the rights and obligations of the provider and the recipient with respect to the use of the materials (ISBER 2008).
Package. A product container with any accompanying materials or components (NCI Thesaurus).
Paraffin embedded. A method of preserving biospecimens where they are chemically or otherwise fixed and then infiltrated with molten wax, which later solidifies (NCI Best Practices working definition).
Patent. A property right granted by the U.S. Government to an inventor “to exclude others from making, using, offering for sale, or selling the invention throughout the United States or importing the invention into the United States” for a limited time in exchange for public disclosure of the invention when the patent is granted (U.S. Patent and Trademark Office, Glossary of Terms, http://www.uspto.gov/main/glossary/index.html#p).
Preservation. Use of chemical agents, alterations in environmental conditions, or other means during processing to prevent or retard biological or physical deterioration of a biospecimen (ISBER 2008).
Prevalence. The total number of cases of a given disease in a specified population at a designated time. It is differentiated from “incidence, ” which refers to the number of new cases in the population at a given time (NCI Thesaurus).
Privacy. 1. The condition or state of being free from public attention to intrusion into or interference with one’s acts or decisions (Black’s Law Dictionary). 2. The ability of a person to control the availability of information about and exposure of him- or herself (adapted from NCI Thesaurus).
Private information. Information about behavior that occurs in a context in which an individual can reasonably expect that no observation or recording is taking place, and information which has been provided for specific purposes by an individual and which the individual can reasonably expect will not be made public (for example, a medical record) (45 CFR § 46.102(f)).
Procedure. A series of steps designed to result in a specific outcome when followed in order (ISBER 2008).
Process validation studies. The process of demonstrating that a specific procedure will consistently produce expected results within predetermined specifications (ISBER 2008).
Processing. Any procedure employed after biospecimen collection but prior to its distribution, including preparation, testing, and releasing the biospecimen to inventory and labeling (ISBER 2008).
Project management. The application of knowledge, skills, tools and techniques to a broad range of activities to meet the requirements of the particular project (Babylon Business Dictionary).
Proteomics. The global analysis of cellular proteins. Proteomics uses a combination of sophisticated techniques including two-dimensional (2D) gel electrophoresis, image analysis, mass spectrometry, amino acid sequencing, and bio-informatics to resolve comprehensively, to quantify, and to characterize proteins. The application of proteomics provides major opportunities to elucidate disease mechanisms and to identify new diagnostic markers and therapeutic targets (NCI Thesaurus).
Quality. Conformance of a biospecimen or process with pre-established specifications or standards (ISBER 2008).
Quality assurance. An integrated system of management activities involving planning, implementation, documentation, assessment, and improvement to ensure that a process or item is of the type and quality needed for the project. Same as quality management system (ISBER 2008).
Quality control. Specific tests defined by the QA or QMS Program to be performed to monitor procurement, processing, preservation and storage; biospecimen quality; and test accuracy. These may include but are not limited to performance evaluations, testing, and controls used to determine accuracy and reliability of the biospecimen resource’s equipment and operational procedures as well as monitoring of the supplies, reagents, equipment, and facilities (ISBER 2008).
Quality management system. See Quality assurance.
Reach-through rights. Rights claimed by the provider of materials to the recipient’s downstream discoveries to which the provider would not otherwise be entitled through its ownership or patent coverage of the material alone. Examples of reach-through rights required by providers in exchange for use of their material by the recipient might include ownership of recipient’s discoveries, license exclusivity, or payments upon the sale of the discovery. Reach-through rights may give the provider an unfairly high level of compensation for the research use of the material by the recipient (NCI Best Practices working definition).
Research. 1. Systematic investigation, including research development, testing, and evaluation, designed to develop or contribute to generalizable knowledge (CFR 45 § 46.102(d)). 2. Systematic investigation into a subject in order to discover facts, establish or revise a theory, or develop a plan of action based on the facts discovered (NCI Thesaurus).
Resource sharing. The sharing of materials and data in a timely manner (NCI Thesaurus).
Retrieval. The removal, acquisition, recovery, harvesting, or collection of biospecimens (ISBER 2008).
Sample. 1. A portion of a biospecimen (NCI Best Practices working definition). 2. A single unit containing material derived from one biospecimen (ISBER 2008). 3. Serving as an illustration or example (Merriam-Webster’s Online Dictionary).
Secondary research. Any research use beyond the scope of the primary study. See Primary research (NCI Best Practices working definition).
Simple letter agreement (SLA). Streamlined form of material transfer agreement approved for use at the NIH. The NIH encourages the use of the SLA to facilitate exchanges between academic institutions (NCI Technology Transfer Branch, http://ttc.nci.nih.gov/, glossary).
Space planning. The process of designing the layout of a building, suite, or laboratory for optimal efficiency in the intended purpose (NCI Best Practices working definition).
Specimen. See Biospecimen.
Stakeholder. One that has a stake or an interest in an enterprise. In the context of the NCI Best Practices, the term stakeholder embraces research participants, patient advocates, researchers, clinicians, and biospecimen resource operational/managerial personnel (NCI Best Practices working definition).
Standard operating procedure. An established procedure to be followed in carrying out a given operation or in a given situation (NCI Thesaurus).
Standard operating procedures (SOPs) manual. A group of SOPs detailing specific policies of a repository and the procedures required to be used by the staff/personnel (ISBER 2008).
Standard precautions. The CDC publication titled “Guideline for Isolation Precautions: Preventing Transmission of Infectious Agents in Healthcare Settings 2007” is also known as “Standard Precautions.” Standard precautions are based on the principle that all blood, body fluids, secretions, excretions except sweat, nonintact skin, and mucous membranes may contain transmissible infectious agents, and include a group of infection-prevention practices. These include: hand hygiene; use of gloves, gown, mask, eye protection, or face shield, depending on the anticipated exposure; and safe injection practices. Also, equipment or items in the patient environment likely to have been contaminated with infectious body fluids must be handled in a manner to prevent transmission of infectious agents (“Guideline for Isolation Precautions: Preventing Transmission of Infectious Agents in Healthcare Settings 2007,” http://www.cdc.gov/ncidod/dhqp/pdf/guidelines/Isolation2007.pdf).
Storage. 1. Maintenance of biospecimens under specified conditions for future use (ISBER 2008).
Sustainable. Of, relating to, or being a method of using a resource so that the resource is not depleted (adapted fromMerriam-Webster’s Online Dictionary).
Tissue. An aggregate of cells with different specialized characteristics that are organized anatomically, usually in the fixed framework of an organic matrix. The architectural organization that is maintained contributes to the performance of a specific collective function. Tissues are parts of organs. The term tissue is most often referred to in the context of solid tissue, as originating from a solid organ; however, tissue also can be defined broadly to include collections of cells and the extracellular matrix and/or intercellular substances from bodily fluids such as blood (NCI Best Practices working definition).
Uniform Biological Material Transfer Agreement (UBMTA). A Master Agreement among the NIH, universities, and other nonprofit research facilities used to expedite transfer of research materials among noncommercial entities (NCI Technology Transfer Branch, http://ttc.nci.nih.gov/, glossary). More information about the terms of the UBMTA and its signatories is available at (http://www.bioinfo.com/ubmta.html).
Unique identifier. A set of characters used as a code that is unique in the context or the system for which it is created. It serves as a means of identification and reference (often instead of a name) for an entity, person, thing, function, procedure, activity, variable, or body of data (NCI Thesaurus).
Use case. A document that describes the interaction between a user (or other initiator of the interaction) and a system, represented as a sequence of simple steps leading to a particular goal (NCI Thesaurus).
Validation (of procedures or equipment). 1. The act of confirming a product or service meets the requirements for which it was intended (Babylon Business Dictionary). 2. A statistical method of partitioning a sample of data into subsets such that the analysis is initially performed on a single subset, while the other subsets are retained for subsequent use in confirming and validating the initial analysis (NCI Thesaurus).
11 A collaborative effort of the NCI Office of Communications and the NCI Center for Bioinformatics to standardize terminology within the NCI, available at http://ncit.nci.nih.gov/.