1. 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
- Author
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Feng-Chang Lin, Lonna Mollison, Jeannette T. Bensen, Margaret Waltz, Tracey L. Grant, Tamara S. Roman, Alexandra F. Lightfoot, Laura V. Milko, Jonathan S. Berg, Suzanne C. O'Neill, Laura Farnan, Ann Katherine M. Foreman, Myra I. Roche, Brooke S Staley, Bradford C. Powell, Christine Rini, Julianne M. O’Daniel, Ida Griesemer, Alicia Brandt, and Angelo Navas
- Subjects
Medicine (General) ,medicine.medical_specialty ,Adolescent ,Genetic disease ,Psychological intervention ,Medicine (miscellaneous) ,Question prompt list ,law.invention ,Study Protocol ,03 medical and health sciences ,R5-920 ,Randomized controlled trial ,law ,Outpatients ,Exome Sequencing ,Health care ,North Carolina ,Sequencing ,Humans ,Medicine ,Outpatient clinic ,Diagnostic odyssey ,Exome ,Pharmacology (medical) ,Child ,Exome sequencing ,030304 developmental biology ,0303 health sciences ,business.industry ,Community engagement ,Precision medicine ,030305 genetics & heredity ,Patient education ,Genomics ,Under-represented populations ,Clinical trial ,ELSI ,Family medicine ,business ,Psychosocial - Abstract
Background Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey. Methods The North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES) 2 study is an interdisciplinary, multi-site Phase III randomized controlled trial of two interventions: educational pre-visit preparation (PVP) and offer of first-line ES. In this full-factorial design, parent-child dyads are randomly assigned to one of four study arms (PVP + usual care, ES + usual care, PVP + ES + usual care, or usual care alone) in equal proportions. Participants are recruited from Pediatric Genetics or Neurology outpatient clinics in three North Carolina healthcare facilities. Eligible pediatric participants are Discussion NCGENES 2 will contribute valuable knowledge concerning technical, clinical, psychosocial, and health economic issues associated with using early diagnostic ES to shorten the diagnostic odyssey of pediatric patients with likely genetic conditions. Results will inform efforts to engage diverse populations in genomic medicine research and generate evidence that can inform policy, practice, and future research related to the utility of first-line diagnostic ES in health care. Trial registration ClinicalTrials.govNCT03548779. Registered on June 07, 2018.
- Published
- 2021
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