CSER: North Carolina Clinical Genomic Evaluation by Next-Gen Exome Sequencing 2

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.]]>
Inclusion criteria for participants undergoing sequencing:Infants and children 15 years old or lessReferred for initial evaluation of a possible monogenic disorder seen for evaluation of an undiagnosed disorder in a study-associated clinic.Parent of enrolled child at least 18 years old, able to provide informed consent for themselves and enrolled child, and fluent in English or Spanish.Exclusion criteria:Have a known genetic or non-genetic diagnosis (only referred for counseling or management)Medically unstable.]]>
Study start date: September 28, 2018Estimated study completion date: August 2021]]>