Journal Publication Press Release

WASHINGTON, D.C.(November 13, 2001)  – A panel of experts has prepared a consent document and a supplemental information brochure aimed at helping bridge the gap between gene discovery and the ability to use genetic information to improve health and prevent disease.  The documents are for potential participants in genetics research studies, according to an article in the November 14 issue of The Journal of the American Medical Association (JAMA), a theme issue on human genetics.

“Bridging this gap … requires that genetics be integrated into the public health research agenda,” the authors write.  “The likely outcome of this research will be more effective and targeted medical and public interventions.” Senior author Muin J. Khoury, M.D., Ph.D., Director, Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention (CDC), Atlanta, presented the paper at the National Press Club today at a JAMA media briefing on genetics.

The risks and benefits for human participants in population-based genetic research studies differ from those typically associated with clinical research.  In response to an urgent need for guidelines, the CDC brought together a multi-disciplinary group of experts to develop an informed consent document and supplemental brochure, to enable individuals to make decisions about participation in genetic studies.

The consent document includes a list of important questions that should be answered by researchers:

Why is this study being done?  “Investigators must explain to prospective participants the purposes of their research,” the authors write.  While the exact genes may not be known in some studies, and numerous genes and interactions may be under investigation in others, researchers should be prepared to answer all questions about the genes under investigation to the extent that such information is known.

What is involved in this study?  “In addition to obtaining biological material, population-based research that involves genetics often requires gathering information about participants’ exposure to environmental factors and their health outcomes,” the authors write.  Participants should also be notified if investigators would like to store remaining biological material for future testing.

How Will Information About Me Be Kept Private?  “Consent documents should affirm that participants’ privacy will be protected and provide details about security measures and any legal protections that are available (e.g., a certificate of confidentiality),” the authors write.

What Are the Risks of the Study?  “The investigator’s charge is to neither understate nor overstate the risks involved so that prospective participants can make informed choices about entering the study,” the authors assert.

Are Any Costs or Payment Involved?  “Some genetic studies may have the potential to result in a product with commercial value,” the authors point out.  “When this possibility exists, it should be disclosed along with a statement about whether participants would share in any profits.”

How Will I Find Out About the Results of the Study?  The National Bioethics Advisory Commission (NBAC) says disclosure of research results to participants should occur only when findings are scientifically valid and confirmed, and have significant implications for the participant’s health concerns, and when a course of action to ameliorate or treat these concerns is readily available.

What Will Happen to My Sample After the Study Is Over?  Potential participants should be informed who, or at least what types of individuals, will have access to research samples, and whether outside investigators or other third parties will have access to the “key” that links coded samples to identifying information.

“Further broad-based discussion will be important for refining this informed consent approach, as will focus group research among potential research participants,” the authors suggest.  “It will also be important to create alternate versions of these materials, for example, for research that involves [anonymous] or already existing specimens, different types of study designs, and different study populations, with culturally appropriate language and disclosures.”

“As epidemiologic research in this area evolves, it will be important to continue re-evaluating the optimal approach to obtaining informed consent,” they conclude.

(JAMA.  2001; 286:2315-2321; available post-embargo at jama.com)

Editor’s Note:  This project was supported in part under a cooperative agreement with the CDC through the Association of Teachers of Preventive Medicine, Washington, D.C.  The informed consent template may be found in its entirety post-embargo at http://jama.ama-assn.org/issues/v286n18/abs/jlm10008.html.