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Informed Consent for Genomics Research


For a general glossary of terms related to genetics and genomics, see the NHGRI Talking Glossary of Genetic Terms. For a glossary of terms related to research administration, see the NIH Grants and Funding Glossary & Acronym List.

Biobank or biorepository: An entity that receives, stores, processes and/or distributes specimens and associated data, as needed. It encompasses the physical location as well as the full range of activities associated with its operation.

Broad consent: A consent model that allows for current and future access and use of samples or data for research without necessarily specifying what the focus of such studies might be.

Certificate of Confidentiality: A tool to protect identifying information or identifying characteristics of a research participant from compulsory disclosure in legal contexts, such as court orders and subpoenas.

CLIA: Clinical Laboratory Improvement Amendments, established to ensure quality laboratory testing. Under CLIA, the Centers for Medicare & Medicaid Services (CMS) regulates all clinical laboratory testing (research is excluded if no clinical results are returned).

Common Rule: The Federal Policy for the Protection of Human Subjects (Code of Federal Regulations, Title 45, Part 46, Subpart A) that applies to all NIH-funded and most federally funded research involving human subjects.

Community consultation: Engaging with a particular community and soliciting feedback, concerns, and suggestions to recognize and accommodate relevant cultural values relevant for a specific population proposed for inclusion in a research project. Communities may be defined (or define themselves) by geography, culture, demographic characteristics, or by shared experience with a disease or condition.

Controlled access: A repository or database where data, samples, or information are accessible only with permission obtained through specific procedures; available only to researchers who apply and get approval to use the data.

Data use limitations: Specific limitations on what data uses are appropriate. Data use limitations are determined based on conditions specified in the original consent form.

De-identified data: Data that do not include names or other personally identifying information (e.g., social security numbers, address, birthdate).

Dynamic consent: A consent model in which participants are able to alter their preferences over time.

General research use: Use for any research question, such as research to understand the biological mechanisms underlying disease, development of statistical research methods, or the study of populations' origins.

Genetics: The study of a particular gene and its functions. Using the term genetics is appropriate when talking about inheritance of specific genes.

Genetic discrimination: Genetic discrimination is prejudice directed against people who have or may have a genetic trait. For example, genetic discrimination can involve being denied employment or health insurance because of genetic status even before disease symptoms appear.

Genomic variant: A common or rare difference in the sequence of a gene or region between genes compared to a reference genome.

Genomics: Genomics refers to the study of the entire genome of an organism whereas genetics refers to the study of a particular gene.

HIPAA: Health Insurance Portability and Accountability Act of 1996, established to protect the privacy of individually identifiable health information by preventing unauthorized disclosure. The HHS Office for Civil Rights enforces HIPAA regulations.

Incidental findings: Unintended findings discovered in the course of a study that lie outside the aim of a test or procedure.

Informed consent: A voluntary agreement to participate in human subjects research or undergo a medical procedure based on adequate knowledge and understanding.

Institutional Review Board (IRB): An administrative body established to protect the rights and welfare of human research subjects recruited to participate in research activities conducted under the auspices of the organization with which it is affiliated. The Institutional Review Board has the authority to approve, require modifications in, or disapprove all research activities that fall within its jurisdiction.

Open access: See "unrestricted access."

Secondary findings: Intentionally sought findings that lie outside the aim of a test or procedure.

Specific consent: A consent model in which the consent applies only to a restricted set of research uses, such as a single study or a specific research topic.

Surrogate: Legal representative authorized to make consent decisions.

Tiered consent: A consent model in which participants are given a set of options allowing them to select how they want to participate in the research.

Unrestricted access: Data are publically available without going through a data access committee or application process (often referred to as "open access").

Whole exome sequencing: Analysis of the parts of the cell's genetic instructions that are primarily responsible for gene function (the coding regions). This analysis looks for small changes (sequence variants) in the genetic instructions.

Whole genome sequencing: Analysis of the complete set of genetic instructions in a cell. This analysis looks for small changes (sequence variants) in the genetic instructions.

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Posted: February 5, 2015