Informed consent for population-based research involving genetics

Bridging the gap between gene discovery and our ability to use genetic info rmation to benefit health requires population-based knowledge about the con tribution of common gene variants and gene-environment interactions to the risk of disease. The risks and benefits associated with population-based re search involving genetics, especially lower-penetrance gene variants, can d iffer in nature from those associated with family-based research. In respon se to the urgent need for appropriate guidelines, the Centers for Disease C ontrol and Prevention formed a multidisciplinary group to develop an inform ed consent approach for integrating genetic variation into population-based research. The group used expert opinion and federal regulations, the Natio nal Bioethics Advisory Commission's report on research involving human biol ogical materials, existing consent forms, and literature on informed consen t to create suggested language for informed consent documents and a supplem ental brochure. This language reflects the premise that the probability and magnitude of harm, as well as possible personal benefits, are directly rel ated to the meaning of the results for the health of the participant and th at appropriate disclosures and processes for obtaining consent should be ba sed on an assessment at the outset of the likelihood that the results will generate information that could lead directly to an evidence-based interven tion. This informed consent approach is proposed to promote discussion abou t how best to enable potential participants to make informed decisions abou t population-based research involving genetics and to suggest issues for co nsideration by research sponsors, institutional review boards, and investig ators.