Clinical Pathology Abstracts, 2/17

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Whole exome sequencing is beginning to transform pediatric oncology by refining cancer diagnoses and providing unexpected information about new noncancer diagnoses, risk assessment for cancer and noncancer diagnoses, reproductive risk assessment, pharmacogenomics, and variants of unknown clinical significance. The concern is that whole exome sequencing (WES) may be an ethically disruptive technology that leaves clinicians and parents of pediatric cancer patients ill-prepared or unprepared to make clinical decisions based on the results. As part of the Baylor Advancing Sequencing in Childhood Cancer Care study, the authors conducted semi-structured interviews with 16 pediatric oncologists and 40 parents of pediatric cancer patients prior to the return of WES results. The interviews were intended to assess whether the physicians or parents expected to be ill-prepared or unprepared to incorporate WES into decision-making about pediatric cancer care. The authors showed that neither pediatric oncologists nor parents anticipated sequencing to be an ethically disruptive technology. This is because they expected to be prepared to integrate sequencing results into their existing approaches to learning and using new clinical information for the patient’s care. The pediatric oncologists planned to incorporate the results into evidence-based approaches to clinical practice, although they were concerned about the impact on parents. The parents’ perspective was that genomic information would better prepare them to participate in decisions about their child’s care. The authors concluded that the data from this study do not support the concern that introducing genome sequencing into pediatric cancer care will be ethically disruptive, leaving physicians and parents ill-prepared or unprepared to make responsible decisions using the new genetic information.

McCullough LB, Slashinski MJ, McGuire AL, et al. Is whole-exome sequencing an ethically disruptive technology? Perspectives of pediatric oncologists and parents of pediatric patients with solid tumors. Pediatr Blood Cancer. 2016;63:511–515.

Correspondence: Dr. Laurence B. McCullough at laurence.mccullough@bcm.edu