SC17: Next-Generation Sequencing as a Diagnostics Platform
Room Location: 153

Monday, March 11 | 8:00-11:00am


A diversity of clinical diagnostic assays are now routinely performed on a variety of NGS platforms, spanning from single gene to multi-gene sequencing, to genome wide analyses for the detection of germline and somatic mutations. The diversity of diagnostic applications has been accompanied by multiple implementation approaches being used by clinical laboratories for specific NGS diagnostic assays. For clinical laboratories with NGS experience, and especially for those just starting to use the technology, designing and operationalizing robust NGS assays remains a challenge. This short course will review principles and diagnostic approaches for NGS assays as applied to molecular oncology and inherited disorders. In addition, an update on laboratory accreditation and proficiency testing specific to NGS will be presented.


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Hegde_MadhuriMadhuri Hegde, PhD, Vice President, Chief Scientific Officer, PerkinElmer

Dr. Hegde is the VP and Chief Scientific Officer, Global Laboratory Services and Adjunct Professor of Genetics and Pediatrics at Emory University and Georgia Tech. Previously, she was the Executive Director of Emory Genetics Laboratory and Professor of Genetics and Pediatrics at Emory University. The focus of her clinical work is the development and implementation of high-throughput strategies for discovery and clinical testing for rare disorders using next generation sequencing (NGS), robotics, clinical exome and genome sequencing, and oligonucleotide array platforms. Her recent work is focused developing strategies for offering clinical genome sequencing for newborns and adult (neurology) populations. Her research work is focused on neuromuscular disorders and understanding the impact rare variant burden in genetic diseases. Dr.Hegde has over 20 years’ experience in clinical diagnostics, which includes laboratory administration, management, developing tools for analysis and interpretation for genomic variation , and consultation with molecular diagnostic companies. She has extensive knowledge of CLIA and CAP regulations related to LDTs and NGS and a strong understanding of current reimbursement landscape and new CPT coding guidelines. She received a B.Sc. and a M.Sc. from the University of Bombay, India, and a Ph.D. from the University of Auckland, New Zealand. She completed post-doctoral studies at Baylor College of Medicine and is board certified in Clinical Molecular Genetics.

Funke_BirgitBirgit Funke, PhD, FACMG, Associate Professor of Pathology, Harvard Medical School; Vice President, Clinical Affairs, Veritas Genetics

Dr. Funke received her Ph.D. in molecular genetics from the University of Würzburg, Germany and trained as a postdoctoral fellow at the Albert Einstein College of Medicine in New York where she identified the gene for 22q11 deletion syndrome. She subsequently completed a fellowship in Clinical Molecular Genetics at Harvard Medical School and has dedicated her career to personalized genetic medicine since then. She served as the director of Clinical Research and Development at the Laboratory for Molecular Medicine (LMM) and was among the first worldwide to implement clinical next generation sequencing (NGS). She also has a extensive experience in clinical diagnostic testing for inherited cardiovascular disorders and is co-chairing the cardiovascular domain working group of the Clinical Genome Resource (ClinGen) whose mission is to harmonize and centralize knowledge resources for genomic medicine. Today, Dr. Funke is Vice President of Clinical Affairs at Veritas Genetics and part time Associate Professor of Pathology at Harvard Medical School. Her long term goal is to use genomic testing for disease prevention.

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