Frequently Asked Questions

An Information Resource for Preparing IRB Protocols for submission of samples to the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository Overview
  1. What is the Human Genetic Cell Repository?
  2. What disease categories are being collected?
  3. What are the benefits of donating samples to the Repository?
Sample Submission, Use, and Distribution
  1. What kinds of samples can be sent to the Repository?
  2. Who is eligible to send samples to the Repository?
  3. What are the costs of submission?
  4. How must the samples be collected?
  5. What documentation is required to accompany the samples?
  6. What is required in terms of consent forms?
  7. What will happen to the samples after they reach the Repository?
  8. Who is eligible to receive samples from the Repository?
  9. What kind of research will be performed on samples obtained from the Repository?
  10. Will samples from the Repository be used for commercial purposes?
Privacy Issues, Subject Rights, and Risks
  1. What assurances are in place to protect subject privacy?
  2. What is the effect of the Health Insurance Portability and Accountability Act (HIPAA) on the Repository?
  3. Does the Repository have a Certificate of Confidentiality?
  4. What are the risks to the subject?
  5. Will subjects be re-contacted by the Human Genetic Cell Repository?
  6. Will subjects be able to withdraw their samples from the Repository?
Human Subjects Research
  1. Is using biospecimens obtained from the NIGMS Repository considered human subjects research?
  2. Is drawing blood or collecting tissue for donation to the NIGMS Repository considered being engaged in human subjects research?
  3. Is donating "non-identifiable" samples to the NIGMS Repository considered being engaged in human subjects research?
Overview
  1. What is the Human Genetic Cell Repository?
    The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository is funded by NIGMS as a contract to the Coriell Institute for Medical Research, which is a not-for-profit biomedical research institution. The Repository, established in 1972, provides a readily accessible, centralized resource for genetic material from individuals with inherited defects in metabolism, chromosomal abnormalities, and other genetic disorders and from individuals from various geographical locations for studies on human diversity. The Repository obtains the samples from clinicians and researchers, grows the cell lines and prepares DNA samples from them, and distributes the cell lines and DNA to researchers.
  2. What disease categories are being collected?
    The Repository collects samples from individuals with single-gene disorders, complex polygenic disorders, chromosome abnormalities, and multifactorial birth defects. Samples are also collected from unaffected, first-degree relatives of individuals with genetic disease as well as from apparently healthy individuals for the study of human variation.
  3. What are the benefits of donating samples to the Repository?
    Sample donation facilitates all areas of research by making available well-characterized materials to any qualified researcher who might have otherwise been unable to invest the time and resources to collect needed samples independently. Donations to the Repository have created a resource of unparalleled scope. More than 5,000 publications have used materials obtained from the Repository. Subjects whose samples are donated may not directly benefit but the knowledge gained from studies on the samples may benefit the population at large.
Sample Submission, Use, and Distribution
  1. What kinds of samples can be sent to the Repository?
    The Repository accepts blood samples, biopsy samples (skin, muscle, etc.), and existing cell lines.
  2. Who is eligible to send samples to the Repository?
    Any clinician or investigator with access to patients with genetic disorders is eligible to submit samples to the Repository. Investigators with existing cell lines from previous studies may also donate samples. Individuals may donate samples on their own behalf by working directly with Repository staff; however, the individual must initiate contact with the Repository and indicate his or her interest in donating a sample.
  3. What are the costs of submission?
    There is no cost to submit a sample to the Repository. The Repository provides sample collection and shipping materials and covers the cost of shipping. The Repository does not cover any fees related to the actual collection of the sample including venipuncture fees or doctor fees.
  4. How must the samples be collected?
    Contact the NIGMS Repository staff at nigms@coriell.org before collecting and shipping samples.
    Blood samples:
    • Sample should be collected in duplicate tubes, at least 8 ml each for adults, in acid citrate dextrose solution A (ACD) yellow-topped tubes (tubes can be provided by the Repository).
      • For children, a smaller quantity of blood is acceptable, and the use of pediatric tubes is preferred. Commonly used guidelines indicate that blood volume taken from children should be no more than 3 cc/kg body weight.
    • KEEP BLOOD AT ROOM TEMPERATURE AT ALL TIMES. DO NOT REFRIGERATE.
    • Each sample should be clearly labeled with the date and an identification number.
    • Sample should be packaged in compliance with IATA Packing Instructions 650.
    • Ship samples Priority Overnight (next business morning) to arrive at Coriell Monday through Friday. The Repository will pay shipping costs.
    Biopsy samples: 
    • Biopsy specimens should be placed in a T25 tissue culture flask or a sterile screw-top vial filled with culture medium containing 100 units/ml of penicillin and 100 micrograms/ml of streptomycin.
    • The top or cap of the flask should be taped very securely to prevent leakage.
    • Each sample should be clearly labeled with the date and an identification number.
    • Sample should be packaged in compliance with IATA Packing Instructions 650.
    • Ship samples Priority Overnight (next business morning) to arrive at Coriell Monday through Friday. The Repository will pay shipping costs.
    Existing cell lines:
    • Samples may be sent frozen on dry ice or as growing cultures. Contact Repository staff for specific instructions.
    • Each sample should be clearly labeled with the date and an identification number.
    • Sample should be packaged in compliance with IATA Packing Instructions 650.
    • Ship samples Priority Overnight (next business morning) to arrive at Coriell Monday through Friday. The Repository will pay shipping costs.
    NOTE THAT SAMPLE COLLECTION CAN BE COORDINATED TO COINCIDE WITH OTHER MEDICAL PROCEDURES AND/OR BLOOD DRAWS TO LIMIT THE NUMBER OF PROCEDURES FOR THE SUBJECT.
  5. What documentation is required to accompany the sample?
    The NIGMS Human Genetic Cell Repository Submission Form must accompany each sample. This form is available on the How to Submit page. The Submission Form requests clinical data, as well as molecular, biochemical, and cytogenetic data if available. It is crucial that detailed clinical data be provided. Anonymized medical records or references from published literature providing clinical data may be provided with the Submission Form.
  6. What is required in terms of consent forms?
    All samples must be collected with informed consent.
    For existing cell lines, the submitting investigator should submit a blank copy of the consent form used to obtain the sample from the subject. A copy of the signed consent form should be kept on file by the investigator who submitted the sample.
    For submitters who do not have access to an IRB, a model consent form approved by the Coriell Institute for Medical Research IRB is available on the How to Submit page.
    For submitters who do have an institutional IRB, a consent form approved by the institutional IRB must be used. Coriell’s model consent form may be used in addition to the institutional IRB-approved consent form or it may be used as the only consent form as long as the institutional IRB approves the form.
  7. What will happen to the sample after it reaches the Repository?
    Each sample is given a unique reference number and processed according to standard Repository protocols. Lymphoblastoid cell lines are established from blood samples, and fibroblast cell lines are established from skin biopsy specimens. All incoming samples, including existing cell lines, undergo rigorous quality control procedures to ensure they are uncontaminated and viable. Before being made available to the scientific community, all samples must pass the quality control protocols and be reviewed by the Repository’s Scientific Advisory Committee.
  8. Who is eligible to receive samples from the Repository?
    Cell cultures and DNA samples are distributed to qualified professionals who are associated with recognized research, medical, educational, or industrial organizations engaged in health-related research or health delivery. There are two requirements for ordering biomaterials from the NIGMS Human Genetic Cell Repository at Coriell to ensure compliance with the Office for Human Research Protections (OHRP), Department of Health and Human Services (DHHS) regulations for the protection of human subjects (45 CFR Part 46).
    1. A STATEMENT OF RESEARCH INTENT with a description of the research to be done with the cell cultures or DNA samples must be provided to the Repository. In the STATEMENT OF RESEARCH INTENT there must be a declaration if there is to be SECONDARY DISTRIBUTION OR SHARED USE of DNA or Cell Cultures (see Human Policy or Animal Policy).
    2. An ASSURANCE FORM (for Human or Animal samples) detailing the terms and conditions of sale must be signed by the principal investigator and the institutional official who can make legal commitments on behalf of the institution (see Assurance Form Signatory Guidelines.)
  9. What kind of research will be performed on samples obtained from the Repository?
    Uses of samples may include, but are not limited to, functional studies, positive or negative controls for genetic testing or assay development, SNP discovery, sequencing, gene mapping, gene identification, characterization of genes and mutations, gene expression, molecular phylogenies, proteomic studies, and determining the ancestral state of polymorphisms or haplotypes.
  10. Will samples from the Repository be used for commercial purposes?
    Samples obtained from the Repository, and material derived from the samples, may not be used for commercial purposes, although knowledge gained from their use may be used. Donors will not be compensated in the event that knowledge gained from use of Repository materials leads to a commercial product.
Privacy Issues, Subject Rights, and Risks
  1. What assurances are in place to protect subject privacy?
    The Repository has measures in place to protect the privacy of donors. However, there can be no absolute guarantee of confidentiality. The measures in place to protect privacy include:
    • assignment of a code number to each sample
    • removal of the donor’s name and any personal identifying information, if present
    • strict guidelines that forbid the Repository from distributing personal identifying information to recipients of samples
    • Certificate of Confidentiality
    Some patient information, such as age, gender, ethnicity, and diagnosis, will be made available to the Repository and its users, but these data will not be traceable to any individuals and will be HIPAA compliant.
  2. What is the effect of the Health Insurance Portability and Accountability Act (HIPAA) on the Repository?
    The Privacy Rule is a federal regulation under the Health Insurance Portability and Accountability Act (HIPAA) of 1996 that governs the protection of individually identifiable health information. The Repository does not store any personally identifying information about the samples, and personally identifying information is never distributed to users of the Repository’s samples. Note that the Coriell Institute for Medical Research and the Repository are not covered entities and therefore are not subject to HIPAA regulations.
  3. Does the Repository have a Confidentiality Certificate?
    Yes, a Certificate of Confidentiality protecting the identity of research subjects has been issued by the National Institutes of Health to protect the privacy of research subjects. 
  4. What are the risks to the subject?
    The medical risks of providing a sample are minimal. The risk for venipuncture is minor transient pain and slight possibility of infection. The risk for skin biopsy is mild local pain, slight bleeding, the possibility of a small scar, and slight possibility of infection. Although subjects are not informed of any results obtained from the use of their sample, there is a small chance that some research may yield results that will have a negative impact on the donor, donor’s family, other individuals, or groups affecting insurability, employability, or family relationships. Donation of biological material to the Human Genetic Cell Repository may pose unforeseeable risks.
  5. Will subjects be re-contacted by the Human Genetic Cell Repository?
    The Repository will not directly contact subjects for whom samples were submitted via a clinician or researcher. The submitting clinician or researcher may re-contact the donor subject and submit new clinical data to the Repository using the assigned Repository reference number to identify the subject. Subjects will not be informed about the use of their samples and will not receive results of any tests that may be performed because samples are de-identified and cannot be traced back to either the subject or the submitter.
  6. Will subjects be able to withdraw their samples from the Repository?
    Samples submitted after May 2012 directly to the Repository by the sample donor (or donor’s parent or guardians) are able to be withdrawn. To request withdrawal, the sample donor or family may contact the NIGMS Repository Genetic Counselor by phone (856-757-4822) or e-mail (NIGMS@Coriell.org). Any remaining undistributed sample(s) and clinical information will be withdrawn upon request.

    Samples that were submitted to the Repository by doctors, genetic counselors or researchers may be able to be withdrawn. If a sample was submitted to the NIGMS Repository by a doctor, genetic counselor, or researcher, the sample donor would need to contact the submitter to inquire about the possibility of sample withdrawal. The submitter would then need to contact the Repository and provide the code that was used to identify the sample when it was submitted to the Repository. If the submitting doctor, genetic counselor, or researcher is not available or if submission records were not maintained, then the sample may not be able to be withdrawn, as all identifiers (names, dates of birth, etc.) are removed at the time the sample is received by the Repository. If the sample is able to be identified, any remaining undistributed sample(s) and clinical information will be withdrawn upon request.
Human Subjects Research
  1. Is using biospecimens obtained from the NIGMS Repository considered human subjects research?
    The DHHS Office for Human Research Protections (OHRP) Guidance on Research Involving Coded Private Information or Biological Specimens (October 16, 2008) clarifies when research on human specimens is considered to be human subjects research. According to this Guidance, biospecimens obtained by researchers from the NIGMS Human Genetic Cell Repository are not considered to be human subjects because conducting research with the samples does not involve an intervention or interaction with the individual and the samples do not contain identifiable private information. The Repository has policies in place that prohibit the release of any information that would allow investigators to identify the individual from whom the cell culture or DNA sample was derived. Although approval by an IRB at the investigator's institution may not be required, investigators are encouraged to seek advice from their IRB.
  2. Is drawing blood or collecting tissue for donation to the NIGMS Repository considered being engaged in human subjects research?
    In the instance where the informed consent of the sample donor has been obtained by NIGMS Repository Staff (either in person or via telephone) and the institution’s only involvement is the physical collection of the blood or tissue sample, the institution collecting the sample is not considered by OHRP to be engaged in human subjects research. According to the OHRP’s Guidance on Engagement of Institutions in Human Subjects Research (October 16, 2008), institutions that are providing services that do not merit professional recognition or publication privileges, which are typically performed by the institution for non-research purposes and whose employees are not administering any study interventions, are not considered to be engaged in human subjects research. For example, a hospital whose employees obtain blood through a blood draw or collect tissue and provide such specimens to investigators as a service would not be considered engaged in human subjects research. Although approval by an IRB at the investigator's institution may not be required, the investigator is encouraged to seek advice from his/her IRB. Investigators who obtain the informed consent and collect samples for submission to the NIGMS Repository will need to submit a protocol to their institution’s IRB.
  3. Is donating "non-identifiable" samples to the NIGMS Repository considered being engaged in human subjects research?
    It is not considered human subjects research for an investigator to submit samples to the NIGMS Repository if both of the following conditions are satisfied:
    (1) The samples were collected for purposes other than submission to the NIGMS Repository (e.g., the samples were collected solely for clinical purposes, or for legitimate but unrelated research purposes, with no "extra" material collected for submission to the NIGMS Repository).
    and
    (2) The samples are submitted without any identifiable private data or information (i.e., no codes or linkers of any sort are maintained, either by the Submitter or by the NIGMS Repository, that would permit access to identifiable private data or information about the living individual from whom the material was obtained).

    Although approval by an IRB at the investigator's institution may not be required, the investigator is encouraged to seek advice from his/her IRB.

    For more information on the submission of "non-identifiable" samples to the NIGMS Repository, please click here.
Updated: 10 December 2015