Abstract

Recent genomic discoveries have improved our understanding of many hematologic diseases and led to novel therapeutic options for many patients. The rapid decrease in the cost of genomic testing has enabled widespread use of clinical genomic testing. However, these advances are accompanied by concomitant challenging ethical concerns. In pediatrics, issues of informed consent for genomic testing, assent, and permission vary significantly by patient age and comprehension. Broader testing strategies, such as whole-exome or whole-genome sequencing, are more likely to yield incidental findings unrelated to the reason for the initial test, and plans to deal with these results when they occur are increasingly important. The lines of clinical care and research are becoming more blurry in the era of precision medicine in which approaches to individual genetic mutations (as opposed to disease phenotypes) occur with increased frequency. Finally, because justice is a fundamental ethical consideration, access to genomic testing and a rigorous approach to utility are critical to individual patients and the field of hematology. In this review, we use 3 cases of genomic testing in pediatric hematology to illustrate core ethical concerns and explore potential solutions.

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