Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.
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.
Whole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA. ischrijver@stanfordmed.org
Iris
I
Schrijver
Nazneen
N
Aziz
Daniel H
DH
Farkas
Manohar
M
Furtado
Andrea Ferreira
AF
Gonzalez
Timothy C
TC
Greiner
Wayne W
WW
Grody
Tina
T
Hambuch
Lisa
L
Kalman
Jeffrey A
JA
Kant
Roger D
RD
Klein
Debra G B
DG
Leonard
Ira M
IM
Lubin
Rong
R
Mao
Narasimhan
N
Nagan
Victoria M
VM
Pratt
Mark E
ME
Sobel
Karl V
KV
Voelkerding
Jane S
JS
Gibson
D019295:Computational Biology / Q000379:methods; D015894:Genome, Human; D023281:Genomics / Q000193:education; D059014:High-Throughput Nucleotide Sequencing / Q000191:economics / Q000379:methods*; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis / Q000191:economics / Q000235:genetics; D010330:Patents as Topic; D057089:Pathology, Molecular / Q000191:economics / Q000379:methods*; D054928:Validation Studies as Topic