TY - JOUR
T1 - The Status and Impact of Clinical Tumor Genome Sequencing
AU - Shaw, Kenna R.Mills
AU - Maitra, Anirban
N1 - Funding Information:
We acknowledge the support of the Khalifa bin Zayed Foundation and the MD Anderson Cancer Center’s Moon Shots Program.
Publisher Copyright:
© Copyright 2019 by Annual Reviews. All rights reserved.
Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2019/8/31
Y1 - 2019/8/31
N2 - Since the discovery that DNA alterations initiate tumorigenesis, scientists and clinicians have been exploring ways to counter these changes with targeted therapeutics. The sequencing of tumor DNA was initially limited to highly actionable hot spots-areas of the genome that are frequently altered and have an approved matched therapy in a specific tumor type. Large-scale genome sequencing programs quickly developed technological improvements that enabled the deployment of whole-exome and whole-genome sequencing technologies at scale for pristine sample materials in research environments. However, the turning point for precision medicine in oncology was the innovations in clinical laboratories that improved turnaround time, depth of coverage, and the ability to reliably sequence archived, clinically available samples. Today, tumor genome sequencing no longer suffers from significant technical or financial hurdles, and the next opportunity for improvement lies in the optimal utilization of the technologies and data for many different tumor types.
AB - Since the discovery that DNA alterations initiate tumorigenesis, scientists and clinicians have been exploring ways to counter these changes with targeted therapeutics. The sequencing of tumor DNA was initially limited to highly actionable hot spots-areas of the genome that are frequently altered and have an approved matched therapy in a specific tumor type. Large-scale genome sequencing programs quickly developed technological improvements that enabled the deployment of whole-exome and whole-genome sequencing technologies at scale for pristine sample materials in research environments. However, the turning point for precision medicine in oncology was the innovations in clinical laboratories that improved turnaround time, depth of coverage, and the ability to reliably sequence archived, clinically available samples. Today, tumor genome sequencing no longer suffers from significant technical or financial hurdles, and the next opportunity for improvement lies in the optimal utilization of the technologies and data for many different tumor types.
KW - molecular diagnostics
KW - next-generation sequencing
KW - precision medicine
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U2 - 10.1146/annurev-genom-083118-015034
DO - 10.1146/annurev-genom-083118-015034
M3 - Article
C2 - 30995147
AN - SCOPUS:85071724934
SN - 1527-8204
VL - 20
SP - 413
EP - 432
JO - Annual Review of Genomics and Human Genetics
JF - Annual Review of Genomics and Human Genetics
ER -