Comparative Effectiveness of Next Generation Genomic Sequencing for Disease Diagnosis: Design of a Randomized Controlled Trial in Patients with Colorectal Cancer/Polyposis Syndromes

Details

• Personal Author:
  Amendola LM ; Bennett RL ; Bennette CS ; Burke W ; Comstock B ; Dorschner MO ; Fullerton SM ; Gallego CJ ; Grady WM ; Heagerty P ; Hisama F ; Horike-Pyne M ; Jarvik GP ; Nickerson DA ; Patrick DL ; Regier DA ; Tarczy-Hornoch P ; Trinidad SB ; Veenstra DL
• Description:
  Whole exome and whole genome sequencing are applications of next generation sequencing transforming clinical care, but there is little evidence whether these tests improve patient outcomes or if they are cost effective compared to current standard of care. These gaps in knowledge can be addressed by comparative effectiveness and patient-centered outcomes research. We designed a randomized controlled trial that incorporates these research methods to evaluate whole exome sequencing compared to usual care in patients being evaluated for hereditary colorectal cancer and polyposis syndromes. Approximately 220 patients will be randomized and followed for 12 months after return of genomic findings. Patients will receive findings associated with colorectal cancer in a first return of results visit, and findings not associated with colorectal cancer (incidental findings) during a second return of results visit. The primary outcome is efficacy to detect mutations associated with these syndromes; secondary outcomes include psychosocial impact, cost-effectiveness and comparative costs. The secondary outcomes will be obtained via surveys before and after each return visit. The expected challenges in conducting this randomized controlled trial include the relatively low prevalence of genetic disease, difficult interpretation of some genetic variants, and uncertainty about which incidental findings should be returned to patients. The approaches utilized in this study may help guide other investigators in clinical genomics to identify useful outcome measures and strategies to address comparative effectiveness questions about the clinical implementation of genomic sequencing in clinical care. [Description provided by NIOSH]
• Subjects:
  Diagnosis Genetics Occupational Health Safety
• Keywords:
  Author Keywords: Comparative Effectiveness Research Colorectal Cancer Diagnostic Tests Genes Genomics Heredity Next Generation Sequencing Outcomes Research Randomized Clinical Trial Whole Exome Sequencing
• ISSN:
  1551-7144
• Document Type:
  Text
• Funding:
  Grant
• Genre:
  Journal Article
• Place as Subject:
  OSHA Region 10 ; Washington
• CIO:
  National Institute for Occupational Safety and Health (NIOSH)
• Topic:
  Workplace Safety & Health
• Location:
  North America
• Pages in Document:
  1-8
• Volume:
  39
• Issue:
  1
• NIOSHTIC Number:
  nn:20056506
• Citation:
  Contemp Clin Trials 2014 Sep; 39(1):1-8
• Contact Point Address:
  David L. Veenstra, Pharmaceutical Outcomes Research and Policy Program, and Institute for Public Health Genetics, Department of Pharmacy, University of Washington, Box 357630, Seattle, WA 98195, United States
• Email:
  veenstra@uw.edu
• Federal Fiscal Year:
  2014
• Performing Organization:
  University of Washington
• Peer Reviewed:
  True
• Start Date:
  20050701
• Source Full Name:
  Contemporary Clinical Trials
• End Date:
  20250630
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:c6eebcb68f12452cf82f82d972578b2add86b6adb1f4c577066c600454f2f5338a4202c07bc8d613c8283b9549d80ad3be9ebf9b60b66c433e89a574695ca509
• Download URL:
  https://stacks.cdc.gov/view/cdc/214104/cdc_214104_DS1.pdf
• File Type:
  [PDF - 371.39 KB ]