TABLE 2.

Clinical Scenarios Along the SDM Spectrum in Pediatric Genomic Testing

	Clinician-Guided SDM			Blended (Clinician- and Parent-Guided) SDM			Parent-Guided SDM
	Oncology	Neurology	Pulmonary	Oncology	Neurology	Pulmonary	Oncology	Neurology	Pulmonary
Clinical scenario	3-y-old with new diagnosis of B-ALL	2-mo-old with profound hypotonia, suspected spinal muscular atrophy	2-mo-old with a positive newborn screen for cystic fibrosis and positive sweat test	7-y-old with suspected relapse of rhabdomyo-sarcoma	3-y-old with new epilepsy and normal brain MRI	4-y-old with concern for primary ciliary dyskinesia	3-y-old with new brain tumor	7-y-old with severe intellectual disability	2-mo-old child with unexplained respiratory failure and dysmorphic facies
Genetic/ genomic test	Leukemia FISH panel on marrow sample	Single gene testing for SMN1	Single gene testing for CFTR	Multigene cancer panel on tumor biopsy	Multigene epilepsy panel	Primary ciliary dyskinesia panel	Whole exome sequencing on paired tumor/ normal samples	Whole exome sequencing	Whole exome sequencing
Potential clinical utility	Risk stratify, optimize upfront treatment regimen	Initiate time-sensitive treatment	Initiate time-sensitive treatment	Identify targeted treatment	Identify targeted treatment (ie, optimal antiseizure medication)	Identify targeted therapies	Identify cancer predisposition syndrome, unlikely to impact current treatment	Identify etiology of intellectual disability, unlikely to impact current treatment	Identify etiology of respiratory failure, unlikely to impact current treatment
Suggested language to discuss testing with parenta	• “…we send this test for all children who we think might have this diagnosis…”			• “…we would recommend this test…”			• “…we have the option of sending this test if it is something you would like…”
	• “…trying to identify particular a particular gene change (or changes) seen in this diagnosis…”			• “…hope to identify if genetic changes seen in other children with this diagnosis are present for your child….”			• “…we would send a sample of your child’s own healthy cells to look for gene changes…”
	• “…this testing is time-sensitive…”			• “…this might identify a targeted therapy for your child…”			• “…it could tell us health information about your child or other family members…”
	• “…this might change the treatment for your child…”			• “…could reveal a change that is in all of the cells in your child’s body…”			• “…we might learn information that has no effect on your child, information that we don’t fully understand, or not learn any new information at all…”
				• “…might learn about your child’s or other family members’ risk for developing certain illnesses…”			• “…because the results are unlikely to change your child’s current care for this diagnosis, we recommend taking time to fully consider whether you are interested in this…”

B-ALL, B-cell acute lymphocytic leukemia.

^a These example phrases are intended to demonstrate possible ways, as part of a larger discussion, to clarify the parent’s role in a given decision and the purpose of the testing being discussed.