Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

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.

doi:10.1016/j.jmoldx.2012.04.006

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Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

August 20 2012
By Schrijver, Iris ; Aziz, Nazneen ; Farkas, Daniel H. ; ...
http://dx.doi.org/10.1016/j.jmoldx.2012.04.006
Source: J Mol Diagn. 14(6):525-540

[PDF-376.43 KB]

English

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Details:

Alternative Title:

J Mol Diagn
Personal Author:

Schrijver, Iris ; Aziz, Nazneen ; Farkas, Daniel H. ; Furtado, Manohar ; Gonzalez, Andrea Ferreira ; ... More +

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. Less -
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:

nihms837941.nxml

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