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Medical Sequencing Program Glossary

Anonymized: Samples or data for which all information that could link the data or sample back to the individual donor are irretrievably stripped from the samples. They are not coded. In addition, in the anonymization process, care is taken to assure that any other information (e.g. health information) that was retained with the sample was not sufficient to re-identify the sample donor.

Approved User: Research investigator who has received National Human Genome Research Institute (NHGRI) approval of a request to access Medical Sequencing Program (MSP) Controlled Access Data through the completion of a Data Access Request document.

Authorized Organizational Representative (AOR): See 'Institutional Business Official'

Collaborating Investigator: An independent primary investigator (PI) collaborating with the requester on the project for which the requester is requesting access to controlled-access MSP data. Collaborating investigators may be from the requester's home institution or a separate institution.

Contributing Investigator: An investigator who provided human samples for use in an MSP project.

Controlled-access data: Secure MSP data that are available from NCBI only to approved users. Will include phenotype data and information linking fragmented open access sequence data.

Coordinating Committee (CC) for Sequencing Target Selection: The CC integrates advice from all sequencing target selection working groups, including the Medical Sequencing Working Group (MSWG), and provides advice to NHGRI regarding the overall scientific priority of any initiatives and projects. The CC also reviews proposals that originate from the sequencing target selection working groups.

Data Access Committee (DAC): A committee constituted of federal employees that will review Data Access Requests (DAR).

Data Access Committee (DAC) Dashboard: A Web-based system used by the NHGRI DAC to tract the status of requests for access to controlled-access data.

Data Access Request (DAR): An automated form (Data Access Request) with which requesters apply for access to the MSP controlled-access data. The DAR requires signatures from the requesting investigator and his/her institutional business official. Submission of the DAR indicates that the signers represent and warrant their qualifications for access to and use of MSP data and certify their agreement to the MSP principles, policies and procedures for the use of MSP as articulated in that document.

Data Use Certification (DUC): A component of the DAR that enumerates the responsibilities of approved users.

Data Use Review Board (DURB): The DURB will evaluate the adequacy of the DAC approval process, and the potential for adverse events for research participants.

De-identified Samples or data which are stripped of the 18 Health Insurance Portability and Accountability Act (HIPAA) identifiers are regarded as being de-identified, unless the contributing investigator, sequencing center, or approved user has actual knowledge that it would be possible to use the remaining information alone or in combination with other information to identify the subject. Alternately, samples are considered to be de-identified if a qualified statistician has determined, using generally accepted statistical and scientific principles and methods that the risk is very small that the associated information could be used, alone or in combination with other reasonably available information, by the anticipated recipient to identify the subject of the information.

HIPAA Identifiers

  1. Names
  2. ALL geographic subdivisions smaller than the state
  3. All elements of dates smaller than a year (i.e. birth date, admission, discharge, death, etc.)
  4. Phone numbers
  5. Fax numbers
  6. E-mail addresses
  7. Social Security numbers
  8. Medical record number
  9. Health plan beneficiary
  10. Any other account numbers
  11. Certificate or license numbers
  12. Vehicle identifiers
  13. Device identification numbers
  14. WEB URL's
  15. Internet Provider (IP) address numbers
  16. Biometric identifiers (fingerprint, voice prints, retina scan, etc.)
  17. Full face photographs or comparable images
  18. Any other unique number, characteristic or code.

Institutional Business Official: (1) A member of the contributing study investigator's home organization with the authority to commit the organization to the terms of the application as defined within the Medical Sequencing Program Sample Applicant Letter form. (2) A member of the approved user's home organization with the authority to certify the organization's agreement to the terms delineated in the Data Use Certification.

Medical Sequencing Working Group (MSWG) for sequencing target selection.: The MSWG is the primary consultant group for NHGRI in selecting MSP initiatives and projects. The MSWG may propose initiatives and projects directly, or review community requests regarding MSP initiatives. The MSWG also considers issues relating to the protection of research subjects within the context of the MSP.

MSP Data: All data generated as part of the MSP, or collected from contributing investigators as part of the MSP.

MSP Initiative: A specific, large initiative within the overall MSP program, for example, "Allelic Spectrum of Common Disease."

MSP Project: A specific project within an MSP initiative. Usually such projects will entail a single disease study or single set of samples that is being subject to sequencing. A complete list of MSP projects and status can be found at Approved Medical Sequencing Projects.

National Advisory Council for Human Genome Research (NACHGR): The National Advisory Council for Human Genome Research (NACHGR) is a federally chartered advisory committee that provides overall advice and guidance to all NHGRI initiatives and policies, including for the MSP. See National Advisory Council for Human Genome Research.

NHGRI: The National Human Genome Research Institute. See National Human Genome Research Institute.

NHGRI Medical Sequencing Program (MSP): An NHGRI program that funds the application of large-scale sequencing capacity to the generation of data that are used to understand how genomic variation contributes to human disease. There are other, related sequencing programs, including the Cancer Sequencing Program and The Cancer Genome Atlas (TCGA) that are administered separately and may have different policies. A complete description of the NHGRI MSP, specific MSP initiatives, and related programs can be found at Medical Sequencing Program and Current Initiatives.

National Institutes of Health (NIH) Electronic Research Administration (eRA): The electronic research administration of the NIH. Requesters and institutional officials (i.e. Signing Officials (SO) and AORs) must register for an account with eRA to submit a request for access to MSP controlled-access data. See Electronic Research Administration.

Open-Access Data: MSP data that are available through open, public databases, for example the NCBI Trace repository or dbSNP.

Requester: Anyone seeking approval for access to MSP Controlled Access data.

Requesting Institution: The requester's home organization.

Sequencing Center: Large-scale sequencing centers are funded by NHGRI to carry out the sequencing component of the MSP.

Signing Official (SO): See "Institutional Business Official."

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Last Reviewed: November 15, 2011