Informed Consent for Genomics Research

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Informed Consent for Genomics Research

Introduction

people Advances in genomic technology, the development of sophisticated analytical and software tools, and the willingness of investigators to collaborate to obtain sufficiently large sample sizes are facilitating the discovery of human genetic variation related to health and disease. These discoveries are essential to improving the understanding of how genes interact with the environment to influence disease risk. It is also essential that the interests of research participants (i.e. human research subjects) who contribute samples and health-related information to these projects are respected throughout the research process.

These online materials provide the research community with information to assist the development of informed consent materials for genomics-related research projects such as genome-wide association (GWA) and genome sequencing studies.

Informed consent involves two fundamental components: a document and a process. The informed consent document provides a 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. This document is part of an informed consent process, which consists of conversations between the research team and the participant and may include other supporting material such as study brochures. The informed consent process provides research participants with ongoing explanations that will help them make informed decisions about whether to begin or continue participating in the research project. Thus, informed consent is an ongoing, interactive process, rather than a one-time information session.

Given the complexity of the scientific and ethical issues that arise when conducting genomics research in the collaborative research setting that includes activities such as deposition of individual-level data into controlled-access databases for broad sharing, evolving IT technology, and the prospect of changing attitudes about privacy, this material is by nature dynamic and not meant to provide definitive answers. Instead, it is meant to be a first iteration of an evolving discussion that serves as a useful resource for scientific investigators as they work with their collaborators, IRBs, research participants, and communities to develop appropriate informed consent materials for genomic studies.

We hope you find this resource 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

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Last Reviewed: May 7, 2012