Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial

Table 2 Multi-stage consent and assent process

	Consent step	Coverage	Who is offered consent?	Assent component	Timing
Intervention 1^a	Consent 1	- Randomization to PVP (versus not getting PVP) - Intake, pre-visit, and post-visit surveys	Every parent participant	No	During enrollment call by phone
Intervention 2^a	Consent 2	- Randomization to be offered ES (versus not being offered ES) - Acknowledge discussion of patients’ rights under the Health Insurance Portability and Accountability Act (HIPAA) - Sharing of child’s and parent’s study data with approved investigators and databanks - Use of the child’s medical record until 18 years of age - Linkage of study data to public and private datasets (e.g., health insurance claims data) - Re-contact - Opt-in or out of future research use of study data	Every parent participant who completes a clinic visit^c	Yes^b	After the clinic visit
Intervention 2^a	Consent 3	- ES with clinical confirmation - Results to be placed in the child’s medical record - Future use of biospecimen and associated data - Opt-in or out of medically actionable results unrelated to child’s condition (i.e., secondary results) - Opt-in or out of future use of child’s specimen/DNA and related data	Every parent/child dyad randomized to ES	Yes^b	After the clinic visit

^aIntervention 1 is the pre-visit preparation intervention, and Intervention 2 is the exome sequencing intervention
^bChildren are determined to be developmentally able to assent if they are both chronologically and developmentally 7 years or older. Developmental age is determined by the physician who conducted their clinical appointment
^cIn rare cases, the child may receive a diagnosis at the clinic visit and be withdrawn from the study and not be offered consent 2

ISSN: 1745-6215