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.
