The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2) study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.
• Parents meeting the following criteria:
• Parent of a child who meets the criteria below
• At least 18 years old.
• Must be able to provide informed consent for child and self.
• Must be fluent in English or Spanish.
• Children meeting the following criteria:
• Infants and children 15 years old or less.
• Referred for initial evaluation of a possible monogenic disorder OR
• Seen for evaluation of an undiagnosed disorder in a study-associated clinic.
This content was sourced from clinicaltrials.gov