Such studies are needed to learn more about how common variations in genes interact with each other and with environmental factors such as diet and smoking to influence the risk of disease and disability.
But even before those investigations begin, health professionals need to develop better models for assuring informed consent, the researchers say. Older models usually served earlier studies well, but applying them unchanged to newer, population-based genetic research could cause significant problems.
“Informed consent is the process of communicating with potential participants about the risks, benefits and alternatives associated with a research project so they can decide for themselves whether or not they would like to take part,” said Laura Beskow of the University of North Carolina at Chapel Hill School of Public Health.
“Much genetic research to date has focused on rare genetic mutations among families with a heavy burden of disease such as multiple family members affected with breast or ovarian cancer,” Beskow said. “This kind of research could uncover genetic information that has significant implications for the health of the participant and her family members and, thus, raises grave concerns about psychological and social harms.”
Population-based research, however, will most often focus on interactions between common gene variations that have a much smaller influence on disease risks and their associations with environmental factors, she said. Those studies are expected to have meaningful public health implications but involve few physical psychological or social risks for individual participants.
“This is because the results will have meaning at a population level in terms of understanding disease but are not likely to be clinically significant for particular individuals,” she said.
Beskow, formerly at the Centers for Disease Control and Prevention, is now a doctoral student in health policy and administration at UNC through a career development award from the Association of Teachers of Preventive Medicine. While at the CDC in Atlanta, she headed a multidisciplinary group that began exploring the need for better informed consent approaches and documents.
A report on ideas they generated appears in the Nov. 14 issue of the Journal of the American Medical Association. Beskow was the lead author.
Other authors were experts in genetics, medicine, epidemiology, public health, law and ethics. They included Drs. Wylie Burke and Jon F. Merz, ethics experts at the universities of Washington and Pennsylvania, respectively, and Drs. Marta Gwinn and Muin J. Khoury of the CDC’s Office of Genetics and Disease Prevention.
The group used expert opinion as well as numerous other resources to create suggested language for informed consent documents and a supplemental educational brochure to accompany those documents. Their new paper explains why the language is necessary and to expose their ideas for further public discussion and development.
Much of the information, written as plainly as possible, was designed to spell out potential benefits and possible risks of participation in population-based research, Beskow said.
“These documents do not represent a formal consensus,” she said. “They are the product of a group of experts and represent the first steps of raising awareness of the need for appropriate guidelines. They also suggest issues for research sponsors, institutional review boards and investigators to consider and language to promote discussion about how best to enable potential participants to make informed decisions.”
Note: Beskow can be reached at beskow@email.unc.edu.
Contact: David Williamson can supply copies of the JAMA article via email: david_williamson@unc.edu
Journal
JAMA