Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

Details

• Alternative Title:
  J Mol Diagn
• Personal Author:
  Schrijver, Iris ; Aziz, Nazneen ; Farkas, Daniel H. ; Furtado, Manohar ; Gonzalez, Andrea Ferreira ; Greiner, Timothy C. ; Grody, Wayne W. ; Hambuch, Tina ; Kalman, Lisa ; Kant, Jeffrey A. ; Klein, Roger D. ; Leonard, Debra G. B. ; Lubin, Ira M. ; Mao, Rong ; Nagan, Narasimhan ; Pratt, Victoria M. ; Sobel, Mark E. ; Voelkerding, Karl V. ; Gibson, Jane S.
• Description:
  This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.
• Subjects:
  Article Computational Biology Genome, Human Genomics High-Throughput Nucleotide Sequencing Humans Neoplasms Patents As Topic Pathology, Molecular Validation Studies As Topic
• Source:
  J Mol Diagn. 14(6):525-540
• Pubmed ID:
  22918138
• Pubmed Central ID:
  PMC6504171
• Document Type:
  Journal Article
• Funding:
  CC999999/Intramural CDC HHS/United States
• Volume:
  14
• Issue:
  6
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha256:be436c54b1ea830c0aad77ed02082cc0a4508939782d85c4d3bb7e0252508323
• Download URL:
  https://stacks.cdc.gov/view/cdc/78369/cdc_78369_DS1.pdf
• File Type:
  [PDF - 376.43 KB ]