Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-06-14

AUTHORS

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, Jeannette T. Bensen

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 < 16 years old and have a first visit to a participating clinic, a suspected genetic condition, and an eligible parent/guardian to attend the clinic visit and complete study measures. The study oversamples participants from underserved and under-represented populations. Participants assigned to the PVP arms receive an educational booklet and question prompt list before clinical interactions. Randomization to offer of first-line ES is revealed after a child's clinic visit. Parents complete measures at baseline, pre-clinic, post-clinic, and two follow-up timepoints. Study clinicians provide phenotypic data and complete measures after the clinic visit and after returning results. Reportable study-related research ES results are confirmed in a CLIA-certified clinical laboratory. Results are disclosed to the parent by the clinical team. A community consultation team contributed to the development of study materials and study implementation methods and remains engaged in the project. 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.gov NCT03548779 . Registered on June 07, 2018. More... »

PAGES

395

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s13063-021-05341-2

    DOI

    http://dx.doi.org/10.1186/s13063-021-05341-2

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1138866451

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/34127041


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