Before beginning a study and during the proposal preparation process, an important issue to consider is whether the proposed research qualifies as human subjects research as defined by the Department of Health and Human Services Office for Human Research Protections (OHRP) and/or the National Institutes of Health. Take a look at the OHRP decision charts and/or the NIH questionnaire to find out what aspects of human subjects research may apply.

IRB Approval in Human Subjects Research

Institutional Review Boards (IRBs) exist to protect the rights and welfare of human research subjects. IRB oversight supports compliance with the current standards of human subjects research and with current regulations. When conducting its review for genomic research, the IRB will look at whether the research involves human subjects.

When starting a research project that may involve the generation of large-scale genetic or other large-scale molecular datasets, a first step is to ensure that the consent forms involved in the study or studies during which the intended specimens were collected include language specific to the possibility of generating these types of data and how those data can be used and shared.

In some cases, the use of human specimens to generate large-scale molecular datasets is not considered human subjects research, and thus not subject to the specific requirements of human subjects research, even though the dataset uses human data. This distinction allows studies which use human specimens/data and deemed not human subjects research to avoid the relatively high level of documentation and reporting requirements of human subjects research.

For NIH grant applications submitted after January 25, 2018, a new required form allows for more clarity if a study does not qualify as human subjects, but does use human specimens and/or data. More about this form, the PHS Human Subject and Clinical Trial Information form can be found here. This form requires the investigator to have reviewed the NIH questionnaire; if the study does involve human specimens and/or data, but is not deemed human subjects research, additional documentation or justification is required. An example of the Research Involving Private Information or Biological Specimens flowchart is here.

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Retrospectively Banked Specimens and IRB Review

It is important to be aware that the timeframe in which the specimens were banked may affect the IRB review of the foundational collection consents. On January 25, 2015, NIH policy for viewing and sharing genomic data changed. Consent documents associated with human specimens banked before this date will have different (and fewer) IRB review criteria than consent documents associated with human specimens banked after this date. For data made from human specimens banked after this date, the patient consent documents will be required to address broad sharing in order for broad data sharing to occur. Sharing may be possible for specimens banked earlier for which the consent documents may be ambiguous with respect to genomic datasets. It is important to consult with the relevant IRB if a consent with sharing requirements can limit the types of data which can be generated and if such a consent can restrict secondary usage or sharing of generated data.

If you are working under an NIH grant and sharing data that may fall under the NIH Genomic Data Sharing (GDS) policy, you should be aware of whether the data you are receiving was collected under appropriate consent. The GDS Policy expects subjects who are asked to enroll in a study in which genomic data are obtained to also be asked for their informed consent to the future research use and broad sharing of their data. Only if potential subjects provide such consent would broad sharing of the data be permissible. If a subject does not consent, he or she may still be enrolled in the study, but their data may not be shared, or may be shared in a limited manner consistent with the specifics of the consent form. The IRB of the entity sharing the data will make a determination about what can be shared and any limitations.

In order to meet the NIH expectations under the GDS Policy, for research projects for which the IRB has granted a waiver of some or all of the required elements of informed consent under 45 CFR 46.116(d), or consent is not required because the activity is not subject to 45 CFR 46, investigators will still need to seek or document consent for future use and broad sharing of genomic and phenotypic data. At minimum, the information described below should be provided to prospective participants.

In order to meet the expectations for future research use and broad sharing under the GDS Policy, the consent should capture and convey in language understandable to prospective participants information along the following lines:

Available Resources