alexa A Framework For Translating Advances In Molecular Genetic Technologies Into Clinical Laboratory Practice | 68709
ISSN: 2161-0681

Journal of Clinical & Experimental Pathology
Open Access

Like us on:

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

13th International conference on Pathology and Molecular Diagnosis

Malgorzata Jaremko and Alexander Bisignano
Phosphorus Diagnostics, USA
ScientificTracks Abstracts: J Clin Exp Pathol
DOI: 10.4172/2161-0681-C1-034
Abstract
Advances 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 costeffective 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.

Email: [email protected]

image PDF   |   image HTML
 
Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7