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No small matter: qualitatively distinct challenges of pediatric genomic studies

DOI: 10.1186/gm278

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There is more here than just the usual underfunding of pediatric projects relative to adult projects, although this certainly may be an important factor [1]. In many ways the barriers mirror some of those that cause under-representation of historically under-represented and underserved minorities in genetic studies as outlined by Francis Collins and colleagues [2]. One important consideration is that it is just much harder to perform genetic studies with children. To start with, there is the matter of consent and assent. Children are not children forever and therefore the parental consent most likely has to be eventually replaced by childhood assent and then full consent as they reach maturity [3]. This already imposes significantly more in terms of overheads for consent management than those incurred by adult prospective studies.Then there is the challenge of obtaining the biological sample. In the judgment of many parents, most children, and a few institutional review boards, the pain and small risks of venipuncture for blood samples outweigh potential benefits, particularly for healthy children. The alternative (for example, obtaining saliva as a source of DNA) often results in suboptimal genomic analyses due to difficulties in obtaining an adequate quantity of sample in young children.In addition, most pediatric care is delivered in small practices, and much of this care and ancillary measurements are not documented in the electronic health records that are mostly found in larger healthcare systems. This makes identification of cases and controls largely an expensive and manual operation. Moreover, the transition to adulthood almost always entails a change in healthcare provider and healthcare delivery system and therefore a discontinuity in record keeping (electronic and/or paper). This results in loss of follow-up information that is essential for genomic studies that address long-term outcomes.Perhaps most challenging is that there is not one population of ch


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