Abstract: Given the significant utility genomic sequencing technologies provide, genomic sequencing is becoming increasingly common in pediatric contexts, especially in the diagnosis of children with rare diseases. As a result, pediatric translational scientists and clinicians have emerged as ‘early adopters’ of these technologies. However, for many pediatricians, deciding when genomic sequencing is indicated, which is the most appropriate of the myriad of available tests (single gene, gene panel, exome, or genome), whom to sequence (whether parents (and which) or additional family members should be included), and which (if any) secondary findings to interrogate, can be daunting. Once the results return, what they mean and how to manage them, especially if some are unexpected, is a particular challenge. In addition to results related to conditions relevant to patient’s current symptoms, there may be secondary findings related to childhood- or adult-onset conditions, and/or findings that may impact parental health or reproductive decision-making. Each of these situations raise ethical, legal, and social challenges distinctive to pediatric settings.
Issues center on the best interests of the child particularly in return of information about adult-onset conditions, the child’s future autonomous decision-making and access to knowledge about treatable conditions, the child in the family unit, and benefits to family members of learning information which could impact them personally. Although there is much discussion regarding potential harms and benefits, in reality little is known about what these actually are. In addition, more complex issues have arisen: how much should we be telling parents about what we don’t know in this rapidly evolving field (variants of unknown significance, unclear penetrance, uncertainty about the results)? What data can and should be placed in the electronic medical record? How can we contact at-risk family members in the context of HIPAA and strict privacy laws. A new era of genomic information is in its infancy; handling genomic information in a way that provides patients and their families with knowledge that is helpful without causing distress is the greatest challenge
2019 Donald N. Medearis Jr., MD, Memorial Lecture / Pediatric Grand Rounds
Location and Address
Rangos Conference Center
Children's Hospital