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• W2163669129 abstract "�ere are a number of compelling reasons why pediatric populations should be preferentially studied to understand the genomic basis of disease. First, many forms of adult disease have genetic etiologies that were discovered in pediatric studies (for example, cardiomyopathies, several causes of infertility and colorectal cancer) where the more penetrant or homozygous mutations, clinically presenting in early childhood, made the genetic pathogenesis much clearer than in adult disease. Second, being able to detect the genetic antecedents of adult disease best allows us to study how the disease develops on the way to adulthood and, just as importantly, gives the longest possible lead time for the implementation of the most cost-effective primary prevention (for example, use of angiotensin converting enzyme inhibitors to reduce the cardiac manifestations of Marfan syndrome if given in childhood). �ird, the individual variation due to environmental exposures, whether it be diet, drugs or other habits, is by definition relatively small compared with that of adults who have had an order of magnitude more exposure to the environment. Consequently, the case could be made that a greater fraction of pathophysiological variability in children can be attributable to inherited traits (although one could make several opposing arguments, including the increased suscepti bility of children to certain environmental insults). Last, and most importantly, children constitute a population with distinct physiology and disease risks and there is no substitute for pediatric genomics studies in order to better understand and ultimately manage or treat these risks and diseases. So why is it that pediatric genomic studies form only a small fraction of the entire collection of genomic studies formed to date? Challenges in pediatric genomics research �ere 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 underrepresentation 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]. �is already imposes significantly more in terms of overheads for consent management than those incurred by adult prospective studies." @default.
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• W2163669129 date "2011-01-01" @default.
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• W2163669129 title "No small matter: qualitatively distinct challenges of pediatric genomic studies" @default.
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• W2163669129 doi "https://doi.org/10.1186/gm278" @default.
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