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Volume 7, Issue 1 (Suppl) J Clin Exp Pathol
ISSN: 2161-0681 JCEP, an open access journal
Pediatric Pathology & Laboratory Medicine 2017
March 15-16, 2017
Page 26
conferenceseries.com
March 15-16, 2017 London, UK
12th International Conference on
Pediatric Pathology & Laboratory Medicine
Implementation of NGS causes dynamic shifts in clinical molecular diagnostics
The past decade witnessed a true revolutionary change in ways how mutation detection is performed in a clinical laboratory.
Single analyte tests were replaced in many labs by multianalyte next-generation sequencing (NGS). This technique
significantly decreased the sequencing cost per-base, enabled labs to analyze much higher number of samples at once, and
broadened the analysis scope froma single gene to gene panels or even thewhole exome/genome.Many new so far unknown gene
mutations were discovered by NGS. They can be used as biomarkers in diagnosis and their availability led to changes in tumor
classification. They are also potential drug targets to develop targeted therapies. Several manufactures supply NGS instruments
and reagents to detect both somatic and germline mutations. Many laboratories opt to develop their own laboratory-developed
NGS assays which can be easily tailored to meet their needs. We developed both amplicon- and hybridization probe-based
NGS assays used to detect driver and druggable mutations in different types of cancers. The assays were extensively validated,
and allow for quick and sensitive detection of point mutations and indels for the most relevant therapeutic genes in several
types of cancers. The complexity of NGS does not make its implementation easy. NGS wet lab workflow entails several critical
steps like sample and sequencing library preparation which are critical for success. Bioinformatics is an integral part of NGS
and needs to be handled by an experienced IT specialist to not only develop appropriate analysis pipeline but to also make
the results available in the appropriate format in the electronic medical records. Administrative leadership is needed to secure
proper reimbursement and keep track of government regulations and oversight.
Biography
Petr Starostik is an Associate Professor of Pathology and serves as the Director of Molecular Pathology in the Department of Pathology, Immunology, and Laboratory
Medicine in the College of Medicine, University of Florida in Gainesville, FL. Over the years, he directed several molecular diagnostics laboratories, both in the USA and
abroad. Development of Molecular Diagnostic Tests is his specialty as evidenced by his publications and the multitude of laboratory-developed tests performed in labora-
tories he directed. Besides clinical work, he also pursues basic research focusing on the role of FLT3 ITD in acute leukemia.
Petr Starostik
University of Florida, USA
Petr Starostik, J Clin Exp Pathol 2017, 7:1 (Suppl)