Practical Guidance on Informed Consent for Pediatric Participants in a Biorepository

In the decade since the Human Genome Project was completed, the knowledge and technologies that this project enabled have led to a remarkable evolution in the way biorepositories are designed and operate. Early biobanks were often designed to facilitate the study of a single condition, while biobanks established in the last decade have more frequently been created with a broader research mission in mind.1 Accompanying this transition have come other changes in biobank practices, including the generation and storage of genome-scale sequencing data, frequent sharing of biosamples and data, pooling of resources among sample collections, and increased interest in returning genetic research results to sample donors. As biorepository practices have become more complex, the task of developing appropriate informed consent practices has become more challenging. There are at least three reasons for this. First, the regulations that govern research with human subjects in the U.S., known collectively as the Common Rule, were written at a time when many of the recent innovations in biobank practices were not anticipated. Second, Institutional Review Boards (IRBs) are tasked with evaluating whether research studies meet both federal regulations and local standards for acceptable research, yet IRB members are often unfamiliar with the complexities of biobanks. Third, it can be quite challenging to explain these practices in informed consent documents in a way that is easy for potential research participants to read and understand. Because of these challenges, several groups have developed practical guidance on informed consent. For example, the website of the National Human Genome Research Institute (NHGRI), Genome.gov, provides model informed consent language developed for genomic research studies, including biobanks.2 The NHGRI website also hosts a white paper developed by our group, the Electronic Medical Records and Genomics (eMERGE) Network.3 This document provides model language for informed consent documents that investigators may adapt for their own biorepository projects. One limitation of these resources, however, is their focus on adult research participants. There are currently no similar resources that address the unique issues that arise for biorepositories that aim to collect samples from pediatric participants. This is an important gap in the literature, since the challenges associated with biobanking are magnified in the setting of pediatric research. The ability of children to engage in informed decision-making varies according to their developmental level, so parental permission is usually required for pediatric research participation. However, a parent’s permission for a child to participate in research is quite different from an adult’s consent for his or her own research participation. A parent’s decision must account for the best interests of the child, while at the same time balancing the future autonomy of the child and the needs of the family. To be sure, there is a robust literature on these unique issues that arise in pediatric research,4,5 including a number of helpful papers that address pediatric biorepositories specifically.6,7 However, it can be difficult for investigators and IRB members to distill these empirical and analytical resources into concrete practices related to the informed consent process. This document is designed to address that need. Writing on behalf of the Consent, Education, Regulation, and Consultation (CERC) workgroup of the eMERGE Network, we provide pediatric-focused guidance for investigators and IRB members working in the U.S regulatory context on pediatric informed consent practices for biorepositories.