Search

Your search keyword '"Laura, Farnan"' showing total 1 results
Start Over Author "Laura, Farnan" Journal trials
1 results on '"Laura, Farnan"'

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

Brooke S. Staley, Laura V. Milko, Margaret Waltz, Ida Griesemer, Lonna Mollison, Tracey L. Grant, Laura Farnan, Myra Roche, Angelo Navas, Alexandra Lightfoot, Ann Katherine M. Foreman, Julianne M. O’Daniel, Suzanne C. O’Neill, Feng-Chang Lin, Tamara S. Roman, Alicia Brandt, Bradford C. Powell, Christine Rini, Jonathan S. Berg, and Jeannette T. Bensen

Subjects
Precision medicine, Sequencing, Under-represented populations, Clinical trial, Genetic disease, Diagnostic odyssey, Medicine (General), R5-920
Abstract

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

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results