Issues in Genetics

Informed Consent for Genomics Research

Overview

 Advances in genomic technology and analytical tools are enabling discoveries that are essential for our understanding of the impact of genomic variants on health and disease, and ultimately for improving health. It is now possible to sequence an individual's whole exome or genome to identify variants associated with disease, investigate how genomic variants interact with environmental factors, and learn how genomic variation is distributed among populations. Increasingly, research participants' samples, genomic data, and associated health information are being stored and shared to maximize the benefit achieved through research.

All of this research depends on the contributions of research participants. It is essential that the rights and interests of research participants (i.e., human subjects) who contribute samples and health-related information to these projects are respected throughout the research process.

The nature of genomic data requires that several specific considerations be kept in mind. In addition to being personal and unique to each 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.

Researchers should address these considerations when designing an informed consent process and consent form for their study.

Informed consent involves two fundamental components: a dialogue or process, and a form.

  • The informed consent process consists of interactions between a qualified member of the research team and the potential participant. This process provides research participants with information that will help them make voluntary, informed decisions about whether to begin or continue participating in a research project. The researcher and potential participants should discuss the study and the content of the consent form, and the researcher should answer any questions the participants may have. Informed consent is achieved through dynamic interactions and in some scenarios it may be an ongoing process, rather than a one-time informational session.
     
  • The consent form is a component of the informed consent process that provides a written summary of the research project (including the study's purpose, research procedures, potential risks and benefits, etc.) and explains the individual's rights as a research participant.

Advances in genome sequencing technology, evolution in our understanding of the genome, the increased power of data storage and sharing, and varying attitudes about genomic privacy necessitate a flexible approach to communicating with prospective participants during the informed consent process and within the consent form.

Purpose of the Informed Consent Resource:

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.

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

Explore Informed Consent Materials:

Acknowledgements:

The following people took time to read through earlier drafts of these web pages.  We are grateful for their thoughtful review and informative feedback. 

Paul Appelbaum, Laura Beskow, Ben Berkman, Joy Boyer, Morgan Butrick, Malia Fullerton, Gail Henderson, Katie Lewis, Jean McEwen, Amy McGuire, Shannon McNeil, Pearl O'Rourke, Stacey Pereira, Mary Rubino, Pamela Sankar, Julie Sapp, Marcia Vital, Joon-Ho Yu and the NIH Office of Science Policy.

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Last Updated: February 4, 2015