Ethical conundrums in pediatric genomics

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.

Figure 1.

Sensitivity and specificity of testing techniques.

Figure 2.

Wisdom, Knowledge, Information, Data pyramid in clinical cancer genomics. In the era of big data, genomic sequencing, and precision medicine, ethically sensitive physicians must attend to the differences between data and information, moving up the ladder to knowledge. Seasoned physicians having spent decades in practice may still strive for wisdom, but we would assert that knowledge will suffice. Data are often accompanied by background noise, and the transition to information may mark an actionable point. For other patients, however, the bar may be higher, and they would take action only at the point of knowledge. Physicians in the 21st century must be able to distinguish among these categories, apply them in the clinical setting, and develop communication skills that will allow them to share the uncertainty.