Informed Consent for Population-Based Research Involving Genetics

Abstract

Bridging the gap between gene discovery and our ability to use genetic information to benefit health requires population-based knowledge about the contribution of common gene variants and gene-environment interactions to the risk of disease. The risks and benefits associated with population-based research involving genetics, especially lower-penetrance gene variants, can differ in nature from those associated with family-based research. In response to the urgent need for appropriate guidelines, the Centers for Disease Control and Prevention formed a multidisciplinary group to develop an informed consent approach for integrating genetic variation into population-based research. The group used expert opinion and federal regulations, the National Bioethics Advisory Commission's report on research involving human biological materials, existing consent forms, and literature on informed consent to create suggested language for informed consent documents and a supplemental brochure. This language reflects the premise that the probability and magnitude of harm, as well as possible personal benefits, are directly related to the meaning of the results for the health of the participant and that appropriate disclosures and processes for obtaining consent should be based on an assessment at the outset of the likelihood that the results will generate information that could lead directly to an evidence-based intervention. This informed consent approach is proposed to promote discussion about how best to enable potential participants to make informed decisions about population-based research involving genetics and to suggest issues for consideration by research sponsors, institutional review boards, and investigators.

Evaluation of biobank constitution and use: multicentre analysis in France and propositions for formalising the activities of research ethics committees

“…On the basis of the literature [1,3,5,7,10,11,12,18,19,20,25] and our results [4, 9, 21, 27], we conclude that it is necessary to formalise the role of the committees in this field -the setting up of any research protocol (primary or secondary use) involving use of a pre-existing biobank. In a number of cases the constitution of the biobank and the setting up of the research project will be associated in the evaluation by the REC.…”

Differences in preferences for models of consent for biobanks between Black and White women

“…More empirical research is needed to address preferences for models of consent for secondary research use of biospecimens among potential donors. Of particular concern is the lack of data from groups underrepresented in research (Luque et al 2012;Pentz et al 2006), including racial and ethnic minorities and individuals with limited educational attainment (Beskow et al 2001;Jeffers 2001;Kaufman et al 2012;Stephenson 1996). It is critically important to understand the preferences for models of consent for secondary research use of biospecimens of diverse individuals, because participation of all population subgroups in biobanks is essential to reach translational research goals (Meslin and Quaid 2004;Moodley et al 2014;Pentz et al 2006).…”

Genetic research participation in a young adult community sample

“…In order to study the complex interactions between environmental factors and genes and to estimate the distribution of various alleles in specific subgroups, quality databases with sociodemographic, phenotypic, and genetic data are needed (Beskow et al 2001;Kendler et al 2011;James et al 2008;Merikangas and Risch 2003). This may be particularly true when studying substance use disorders where treatment avoidance, barriers within medical and legal systems, or other concerns may keep individuals from participating in genetic research.…”