PURPOSE OF REVIEW: Exome and genome sequencing have recently emerged as clinical tools to resolve undiagnosed genetic conditions. Protocols are critically needed to identify proper patients for testing, select a test and laboratory, engage parents in shared decision-making, and for the return of results.
RECENT FINDINGS: Among well selected patients, the likelihood for identifying the causative gene change may be as high as 30%. It is key for pediatricians to consider whether sequencing should be the primary line of pursuit of a molecular diagnosis. Parents should understand the uncertainties inherent in this sequencing and the preference-based nature of testing. Pediatricians can engage in shared decision-making for this process and work to help parents make decisions consistent with their priorities and values. Upon receipt of a pathogenic mutation, discussion of the likelihood for future treatment is paramount to parents, as are the implications for recurrence within the family. Uncertainties inherent to genomic results need to be explained in the context of the likelihood of future research and discoveries.
SUMMARY: Pediatricians should make a deliberate decision with each patient whether to manage genomic testing on their own, refer the patient for such testing, or initiate the process and refer simultaneously. Regardless of which approach is taken, understanding the basics of this testing will allow the pediatrician to support the parents through the diagnostic process.