The NCGENES 2 study is led by researchers at the University of North Carolina at Chapel Hill, one of six sites participating in the CSER 2 consortium, which is a national multi-site research program jointly funded by the National Human Genome Research Institute (NHGRI), the National Cancer Institute (NCI), and the National Institute on Minority Health and Health Disparities (NIMHD). The CSER 2 consortium sites and a coordinating center use interdisciplinary, translational research to evaluate the integration of GS into the clinical care of diverse and medically underserved individuals with suspected genetic disorders by developing and sharing best practices in areas such as informed consent, informed and shared decision making, patient-reported outcomes, and return of results.

NCGENES 2 follows up, in part, on exploratory research conducted during the original NCGENES study [22], which performed ES in 643 adult and pediatric patients to evaluate its utility as a diagnostic test. In this continuation study, NCGENES 2 will be a full-factorial Phase III randomized controlled trial of two interventions: (1) pre-visit preparation (PVP) for parents/guardians of patients (versus not receiving PVP) and (2) offer of ES (versus not offered ES) (Table (Table11).

Trial arms and interventions

Experimental:

PVP / ES + usual care

Participants randomized to pre-visit preparation (PVP) will receive a study packet with educational materials and a question prompt list (QPL) before their clinical interactions (e.g., clinic visit or return of diagnostic/clinical test results). These participants will be instructed to review the materials, use the QPL to select questions they would like to ask at their clinic visit, and use the QPL during clinical interactions.

Participants will be offered research exome sequencing (ES) in addition to their usual clinical care.

Experimental:

PVP / usual care

Participants randomized to PVP will receive a study packet with educational materials and a QPL before their clinical interactions (e.g., clinic visit or return of diagnostic/clinical test results). These participants will be instructed to review the materials, use the QPL to select questions they would like to ask at their clinic visit, and use the QPL during clinical interactions

Participants will not be offered research ES but will receive usual clinical care.

Experimental:

No PVP / ES + usual care

Participants in the no PVP arm will be mailed a study packet reminding them about their upcoming clinic visit.

Participants will be offered research ES in addition to their usual clinical care.

Control:

No PVP / usual care

Participants in the no PVP arm will be mailed a study packet reminding them about their upcoming clinic visit.

Participants will not be offered research ES but will receive usual clinical care.

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