NIH

Informed Consent for Genomics Research

The Informed Consent Resource

Introduction

This online Informed Consent Resource (ICR) provides the research community with information and examples to assist with the development of informed consent processes and consent forms for genomics-related research projects. Information specifically for current and potential research participants can be found in the resources section (Educational tools and resources for participants) and on the other National Human Genome Research Institute (NHGRI) Issues in Genetics pages.

Given the complexity of the scientific and ethical issues that arise when conducting genomics research, the ICR is designed to be dynamic and is not intended to provide universal solutions. The intent of the ICR is to stimulate an iterative dialogue with the research community and provide a living resource for scientific investigators as they work with collaborators, Institutional Review Boards (IRBs), and in some cases research participants and communities, to develop appropriate informed consent materials for genomic studies.

In designing an effective informed consent process for genomics research, researchers should consider the information participants might need in order to understand risks and potential benefits of participating in the study, with attention to 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 IRBs.

The informed consent process in most genomics research, as with any type of research, should be a dynamic interaction that focuses on information that researchers, IRBs, and participants themselves think would be most useful for participants as they decide whether or not to participate in a given study. Some concepts that arise in genomics research, such as results related to increased risk (but not diagnoses) or the long-term storage and use of data, can be particularly challenging to convey and may require additional time. Involving genetic counselors in the informed consent process may be useful (either communicating directly with potential subjects or as advisors on the consent process) because of the complexities of communicating the potential risks and benefits of genomics research; however, it may not be practical or necessary for many studies.

For some research, while informed consent is not required by federal regulations, it may still be appropriate. Institutions, IRBs, federal funding agencies, or other governance bodies may require or expect consent in some of these cases. In particular, NIH, under the NIH Genomic Data Sharing (GDS) policy, expects that researchers generating large-scale human genomic data use specimens or cell lines for which consent was obtained for future research purposes and broad sharing.[1]

Research Generating Large-Scale Genomic Data on Individuals

Studies that include whole genome sequencing (WGS), whole exome sequencing (WES), epigenetic profiles, microbiotic profiles, and related forms of in-depth extra-genomic data generate immense amounts of personal information about participants. It is important to draw a distinction between targeted genetic research and broader sequencing protocols, 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 decide to stop participating in the study or after they are deceased.
  • The risks (including privacy risks and psychosocial risks) and potential benefits of generating large-scale genomic data.

These topics are covered in detail throughout this resource, and each topic includes sample language that can be used and modified for the consent process. It should be noted that wherever the term "genomic data" is used, the considerations discussed apply to any genomics research, including whole genome analyses.

The following considerations are not comprehensive but are intended to be complementary to federal and institutional requirements, regulations, and guidance documents. For multi-site trials or for research that includes international sites, consent forms may be subject to additional regulatory guidelines and may need to be approved by multiple IRBs. Study investigators can include additional information in the consent form beyond what is required by federal regulations.

We hope you find the ICR useful and welcome feedback or suggestions that you would like to share. If you would like to send us a comment or question, please contact us at informedconsent@mail.nih.gov

Note: The sample language provided is intended to stimulate ideas. The language provided does not cover all acceptable scenarios, and you should tailor it to your specific study design and population should you chose to adapt relevant language to your needs.


Footnotes

[1] August 27, 2014: Genomic Data Sharing (GDS). National Institutes of Health.

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Posted: June 14, 2016