Toward the Just Use of Genomic Sequencing for Listing Decisions in Pediatric Transplantation

Michael Deem, PhD 
Associate Professor of Human Genetics 
Faculty, Center for Bioethics & Health Law 
University of Pittsburgh 

Abstract: Whole-genome and exome sequencing (WGS/ES) have facilitated rapid molecular diagnoses of phenotypically complex presentations with suspected genetic etiologies within neonatal intensive care and provided timely guidance for direction of care in pediatric care settings. Clinicians and bioethicists have nonetheless expressed concern about how expanded clinical use of these tools might impact medical decision-making, with one specific concern surrounding pediatric solid organ transplantation. This presentation will describe two early case reports in the clinical literature that discuss decisions against listing two pediatric patients after results of WGS/ES not only confirmed provisional diagnoses, but also revealed variants associated with cognitive disability and psychiatric illness. The presentation will consider how detection of variants associated with intellectual disability and psychiatric illness will continue to impact pediatric transplantation listing decisions, and whether the use of genomic sequencing in pediatric transplantation contexts is ethically justified. The presentation will conclude by considering whether a just use of WGS/ES in pediatric transplantation decisions is possible, provided it not further entrench biases against patients with suspected or anticipated disability. 

Seminar of the Department of Human Genetics