The study will use a multi-staged informed consent process due to the complexity of the study (Table (Table2);2); our goal will be to avoid overloading participants with complex information by optimizing the time and resources they can use to understand and carefully consider whether to participate. This approach will allow for the continued establishment of trust and rapport. Consent 1 to participate in the study will occur at enrollment and be conducted by a study coordinator or research assistant by phone. The study coordinator will conduct consents (and assents) 2 and 3, as well as inform parents about the Health Insurance Portability and Accountability Act (HIPAA). Ideally, consents 2 & 3 will be done in person immediately following the post-visit assessment, but, if schedules do not allow, it will be completed later by phone. Parents will provide consent for their parent-child dyad; however, children who are chronologically and developmentally 7 years or older will be asked to assent to both the randomization to offer of ES vs. no ES (at time of consent 2) and to providing a biospecimen sample (by either blood draw or saliva collection) if randomized to the ES intervention arm (at time of consent 3). Developmental age will be determined by the physician who conducted their clinical appointment. When the child can assent, the parent’s consent and the child’s assent must be concordant for consent 2 and consent 3. Of note, consent and assent to randomization to ES (consent 2) must be obtained for continued participation in the study. Participants can withdraw consent (or assent) at any time for any reason. They can also be discontinued from further participation by the investigative team if, after consenting, they are determined to be ineligible, either administratively (e.g., child is identified as a ward of the state/foster care) or due to a change in clinical criteria (the patient is determined to have a genetic diagnosis during the study clinical visit).

Multi-stage consent and assent process

- Randomization to PVP (versus not getting PVP)

- Intake, pre-visit, and post-visit surveys

- 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

- 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

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

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