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conferenceseries
.com
June 26-27, 2017 San Diego, USA
13
th
International conference on
Pathology and Molecular Diagnosis
Volume 7, Issue 2 (Suppl)
J Clin Exp Pathol, an open access journal
ISSN:2161-0681
Pathology and Molecular Diagnosis 2017
June 26-27, 2017
A framework for translating advances in molecular genetic technologies into clinical laboratory
practice
Malgorzata Jaremko
and
Alexander Bisignano
Phosphorus Diagnostics, USA
A
dvances of the molecular diagnostic testing platforms, including development and implementation of NGS based
genetic testing contribute to the improvement of disease prediction, diagnosis, and treatment. However, the future of
genomic medicine relies on the capability of molecular genetics laboratories to develop and validate evidence-based and cost-
effective laboratory tests. These laboratories face many challenges including establishing clinical utility, validating analytical
performance of laboratory developed tests, and managing costs of platform development and subsequent consumables. Along
with the molecular and instrumentation challenges, laboratories are faced with a myriad of software options (e.g., Galaxy,
Amazon, GATK, BaseSpace, and Clarity) when establishing a reliable bioinformatics pipeline and LIS system. Finally, there is
a lack of consensus and consistency in the quality standards across the industry (e.g., read depth, variant curation, and clinical
validation structure). In this study, we present a framework for the consistent development of accurate, high-quality, NGS
diagnostic tests. Our process is broken into stages from gene selection through clinical validation and implementation. Based
on the experience in our own CLIA-laboratory, we present lessons learned in the development of NGS targeted panels for
sequencing and CNV analysis for various indications including infertility, hereditary cancers, arrhythmias, cardiomyopathies
and lipidemias.
Biography
Malgorzata Jaremko has completed her PhD in Pharmacogenomics from Wroclaw Medical University and Postdoctoral Clinical Fellowship from Mount Sinai School
of Medicine, NY. She is board certified by American Board of Medical Genetics and Genomics in Clinical Molecular and Clinical Biochemical Genetics; and she is
Fellow of American College of Medical Genetics and Genomics, as well as National Academy of Biochemistry. She has extensive experience in directing clinical
molecular laboratories, and currently serves as the Senior Director, Clinical Laboratory & Molecular Diagnostics, and CLIA-Director of Phosphorus Diagnostics
genetic testing laboratory.
m.jaremko@gmail.comMalgorzata Jaremko et al., J Clin Exp Pathol 2017, 7:2 (Suppl)
DOI: 10.4172/2161-0681-C1-034