Informed Consent in Genomics and Genetic Research

Amy L. McGuire, Laura M. Beskow
<span title="">2010</span> <i title="Annual Reviews"> <a target="_blank" rel="noopener" href="" style="color: black;">Annual review of genomics and human genetics (Print)</a> </i> &nbsp;
Informed consent is a cornerstone of the ethical conduct of research involving humans. Based on the ethical principle of respect for persons (67), the goal of informed consent is to ensure that subjects are aware of the risks and potential benefits and make a voluntary decision about participating in the research (67). However, advances in genetic and genomic research--in particular, the increasing emergence of large-scale population studies and genomic databases--have challenged traditional
more &raquo; ... ceptions of informed consent (18, 40). Genetic and genomic research requires access to human DNA from biological specimens, which can be stored and used in multiple research studies. Access to stored biospecimens for genetic and genomic research is critical because understanding genetic variation and its association with common and complex disorders on a genome-wide scale requires large sample sizes to achieve sufficient power (101). Biospecimens are most useful when linked to clinical and other phenotypic information about the sample source. This has been accomplished in some countries by the creation of national biobanks (98). In addition to the proliferation of population-based biobanks, many investigators, pharmaceutical companies, and institutions are collecting and storing biological specimens, clinical data, and genetic information in local and regional repositories. Often, cell lines are made so that the specimens can be studied indefinitely, and resulting DNA data are made broadly available for secondary analysis through publicly accessible or restricted databases (38, 68, 69, 70, 75, 93, 102, 103) . How specimens and data are collected and stored, for how long, by whom, and for what purposes varies tremendously. However, most genetic and genomic research projects share several common features that challenge the established norms of informed consent (Table 1) . In this article, we discuss these challenges, explore specific elements of informed consent for genetic and genomic research, and consider alternative consent models that have been proposed ( Table 2 ). All of these models attempt to balance the obligation to respect and protect research participants with the larger social interest in advancing beneficial research as quickly as possible.
<span class="external-identifiers"> <a target="_blank" rel="external noopener noreferrer" href="">doi:10.1146/annurev-genom-082509-141711</a> <a target="_blank" rel="external noopener" href="">pmid:20477535</a> <a target="_blank" rel="external noopener" href="">pmcid:PMC3216676</a> <a target="_blank" rel="external noopener" href="">fatcat:6ogi67s55fdlrohqbytxc75e5i</a> </span>
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