Frequently Asked Questions regarding the GDS Policy expectations for NHGRI-funded genomic research.
How do I know if my NHGRI project is subject to the NIH GDS Policy?
NHGRI encourages sharing of all genomic data and data types including, but not limited too, single nucleotide polymorphism (SNP) array data, genome sequence data, transcriptomic data, epigenomic data, or other molecular data produced by array-based technologies or high-throughput sequencing technologies.
Data pertinent to the interpretation of genomic data—such as associated phenotype data (e.g., clinical information relevant to the disease under study), exposure data, and descriptive information (e.g., protocols or methodologies used)—are expected to be shared. All data sets should include the appropriate metadata to allow efficient sharing and integration with other data sets.
Amount of Data/Type of Study Design
NHGRI finds value in and encourages the sharing of smaller project sizes that do not meet the definition of ‘large-scale’ according to the NIH guidance regarding scope of the GDS Policy. Investigators should consult with appropriate NHGRI Program Directors as early as possible to determine whether the GDS Policy applies to their research study.
How does NHGRI’s expectation for explicit consent for future research use and broad data sharing differ from the NIH-wide expectation? Why does it differ? (NEW)
NHGRI expects that all human data generated by NHGRI-funded or -supported research will be derived from specimens or cell lines for which explicit consent for future research use and broad data sharing can be documented. The NHGRI expectation goes beyond the expectation of the NIH GDS Policy. While the NIH GDS Policy does not require explicit consent for future use and broad data sharing when specimens or cell lines were created or collected before January 25, 2015, NHGRI’s expectation contains no such grandfather clause.
NHGRI determined it was most appropriate to encourage the genomics community to use data sources that are explicitly consented for future research use and broad data sharing whenever possible to increase transparency with researchers and participants and promote consistent data sharing expectations across genomics studies. It is important to note that exceptions to the consent expectation will continue to be granted on a case-by-case basis when there is a compelling scientific justification.
Which NHGRI grant mechanisms will be affected?
NHGRI will implement this expectation for explicit consent across all grant mechanisms. Many funding opportunity announcements (FOAs) developed by NHGRI that include generation of genomic data with receipt dates on or after January 25, 2020 will include this expectation. NHGRI will expand this expectation to all other applications submitted on or after the January 25, 2021 receipt date. NHGRI Intramural projects are also expected to comply with this expectation no later than January 25, 2021.
How can I request an exception? What must a request include?
Requests for exceptions should include the name of the specimen or cell line and a scientific justification for requesting the exception. For example, the research will replace or augment existing data from specimens or cell lines that are highly studied; or the research requires benchmarking of significantly improved, modified protocols generated using existing, standardized cell lines or specimens. If these reasons do not apply, an explanation as to why other existing resources or new samples with the appropriate consent cannot be obtained or used, and an explanation as to why the proposed specimen or cell line uniquely addresses the needs of the field should be provided (1-2 paragraphs).
Who reviews and grants exceptions?
Requests for exceptions are reviewed by the NHGRI Genomic Data Sharing (GDS) Governance Committee, in consultation with the relevant Program Director as needed. The Governance Committee provides ongoing stewardship and leadership for the Institute’s GDS policies and has guided the implementation of the expectation for explicit consent.
What is the timeline for reviewing requests for exceptions? Can I appeal a decision to deny use of a proposed human specimen or cell line which lacks explicit consent?
Once the request is received by the NHGRI Genomic Data Sharing (GDS) Governance Committee it will take no more than one month for the Governance Committee to reach a decision and notify the applicant.
If an exception request is denied, the request can be revised with additional information regarding the unique scientific value of the proposed specimen or cell line and re-reviewed by the NHGRI Governance Committee. In this case, it may take up to an additional two weeks to complete the review process.
How does the NHGRI expectation for non-human data release differ from the NIH GDS Policy Supplemental Information? Why does this expectation differ?
Data sharing plans for NHGRI-funded or -supported projects to generate non-human genomic data proposed after January 25, 2016 should include pre-publication timelines for data submission and release consistent with NIH GDS Policy expectations for human genomic data (including a possible holding period before data release not to exceed six months).
Progress on data sharing should be documented in annual research performance progress reports (RPRR) and NHGRI consortia reporting mechanisms, as applicable. Program directors will monitor progress according to the timelines established through the data sharing plans.
This expectation is consistent with the institute’s program priorities as it makes data available for access at the earliest appropriate point to promote maximum public benefit from federal investment in genomics research. As a leader in GDS Policy development and implementation, NHGRI supports timely data release through widely accessible data repositories.
How does NHGRI’s expectation for participant consent regarding the secondary use of generated data differ from the NIH GDS Policy expectation?
NIH NHGRI The NIH GDS Policy stipulates that, “for studies proposing to use genomic data from cell lines or clinical specimens that were created or collected after the effective date of the Policy, NIH expects that informed consent for future research use and broad data sharing will have been obtained even if the cell lines or clinical specimens are de-identified.”
The NHGRI expectation goes further and specifies that, “whenever possible, NHGRI strongly encourages studies involving human data to use data generated from sources with participant consent for unrestricted access or for general research uses through controlled access.”
NIH expects investigators to obtain participants’ consent for their genomic and phenotypic data to be used for future research purposes and to be shared broadly.
NHGRI specifies that consent language should avoid restrictions on the types of users who may access the data in order to ensure the broadest possible sharing.
NHGRI acknowledges that conforming with these two expectations will not always be possible or appropriate. In addition, individual participants who do not consent to future use or broad data sharing may still participate in the primary study, if consistent with study design.
What is the difference between ‘consent for broad data sharing’ and ‘broad consent’?
Broad consent is an approach to obtaining consent that permits current and future access and use of samples or data for research without necessarily specifying what the focus of such studies might be. Consent for broad data sharing is specific to the sharing of data and indicates that data can be shared with others, often through data repositories (which can be open-access or controlled-access). Broad data sharing does not preclude the ability of participants to limit the future use of the data (e.g., data can only be used for cancer research). Per the GDS Policy, data submission and subsequent data sharing for research purposes must be consistent with the informed consent of study participants from whom the data were obtained.
‘General Research Use’ or GRU is an example of the broadest standard NIH consent group option for controlled-access data. Under GRU, use of data is limited only by the terms of the Data Use Certification. As a reminder, NHGRI supports the broadest appropriate genomic data sharing with timely data release through widely accessible data repositories.
For a discussion of considerations in developing informed consent processes for genomics research, see the NHGRI Informed Consent Resource and the section on Special Considerations for Genomics Research.
What is an NIH-designated data repository? Does NHGRI have one besides dbGaP?
An NIH-designated data repository is any data repository maintained or supported by NIH either directly or through collaboration. In January of 2019, the NHGRI Analysis, Visualization, and Informatics Lab-Space (AnVIL) became an NHGRI-designated data repository. Currently, this does not change the process for submitting data to the NHGRI.
What happens when a research participant withdraws consent?
Per the NIH GDS Policy, submitting investigators and their institutions may request removal of data on individual participants from NIH-designated data repositories in the event that a research participant withdraws or changes his or her informed consent preferences. If a participant withdraws or changes his or her informed consent preferences, data are removed from any future data releases and a new version of the dataset is released. It’s important to know that some data that have been distributed for research cannot be retrieved.
The NHGRI Informed Consent Resource’s ‘Required Elements of the Consent Form’ webpage contains considerations and sample language that addresses the practical limits on the ability of participants to withdraw samples, genomic data, or health information that have been contributed to genomics research that can be useful to include when drafting informed consent documents.
Still have questions?
Investigators who plan to submit a grant application that proposes the generation of genomic data should consult with appropriate NHGRI Program Officers as early as possible. For questions about submitting data under the GDS Policy or about NHGRI’s implementation of the GDS Policy, you may consult the NHGRI Genomic Program Administrator (GPA), Jennifer Strasburger. For questions about the GDS Policy, contact the NHGRI GDS Policy Analyst, Elena Ghanaim, or the NIH Office of Science Policy’s GDS Mailbox. For other questions about NHGRI Genomic Data Sharing Governance or the NHGRI Data Access Committee, see NHGRI’s list of GDS Policy contacts.
Last updated: December 16, 2019