Informed consent is an integral part of the genomics research endeavor. Since sequencing a person’s genome can have implications for identity and privacy, the informed consent process is an important touchstone to maintain research participant autonomy. This page contains information about informed consent, with a particular focus on considerations that are specific to genomics research.
Informed Consent and Genomics
It is essential to respect the rights and interests of research participants, given that their contributions, such as samples and health-related information, are critical for the success of most human scientific research.
Researchers and research participants should engage in a dialogue to understand the specific considerations associated with contributing genomic data. In addition to being personal and unique to every individual, genomic data may, for example:
- Be stored and used indefinitely.
- Inform individuals about susceptibility to a broad range of conditions (some of which are unexpected given personal or family history).
- Carry with them risks that are uncertain or unclear.
- Be reinterpreted and change in relevance over time.
- Raise privacy concerns (in part because of the risk of re-identification).
- Be relevant for family members and reproductive decision-making.
In designing an effective informed consent process for genomics research, researchers should consider the information participants may need to understand risks and potential benefits of participating in the study. Researchers should pay particular attention to the cultural context or other special circumstances of the participants, including language, literacy and attitudes about consent and research participation. To ensure adequate protections for research participants, additional elements of the consent form may be required by state or local laws, biobanks and data repositories, or Institutional Review Boards (IRBs).
The informed consent process should be a dynamic interaction between researchers, IRBs and participants. Sufficient time should be allocated for complex genomics concepts such as increased disease risk rather than definitive diagnoses and long-term storage and use of data. It may be useful to involve genetic counselors in the informed consent process, either for communicating directly with potential subjects or as advisors on the consent process. This is due to the complexities of communicating the potential risks and benefits of genomics research; however, it may not be practical or necessary for many studies.
While informed consent is not required by federal regulations for research that is not considered to be “human subjects research”, it may still be appropriate to seek consent for these activities. For instance, the NIH Genomic Data Sharing (GDS) policy expects that researchers obtain consent when they plan to generate and share large-scale genomic data from human specimens or cell lines.
Large-Scale Genomic Data
Vast amounts of personal information about participants are generated through studies that include whole genome sequencing , whole exome sequencing, epigenetic profiles, microbiotic profiles, and related forms of in-depth extra-genomic data. It is important to draw a distinction between targeted genetic research and broader genome sequencing, so that participants understand the scope of data generation.
As with any study involving genetic or genomic analyses, the informed consent process for "whole genome" studies should inform participants of the following:
- What might be learned from the data collection.
- How the data will be stored and shared.
- Whether participants will receive any individual results from current or future studies using their samples or data.
- What would happen if they decided to stop participating in the study or after they are deceased.
- The risks (including privacy and psychosocial ) and potential benefits of generating large-scale genomic data.
The Informed Consent Resource
The NHGRI Informed Consent Resource, originally created in 2010 and continuously maintained, provides sample language for informed consent forms and additional information about the required elements for informed consent and the special considerations for genomics research.
Basic elements of informed consent that are required by the Common Rule (45 CFR 46, Subpart A) and are relevant to genomics.
Genomics-relevant considerations for informed consent and guidance on how to approach them.
Last updated: January 4, 2022