Sequencing; Clinical Testing; Laboratory; Oncology

1B - Clinical Whole Genome Sequencing: Is It Time?
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

Monday, October 9
10:15 AM - 11:45 AM

Genomics is revolutionizing medicine, particularly with rapid advances in the output of next generation sequencing, which has made it easier and cheaper to do various types of genome analysis including the sequencing of small gene panels, whole exomes or even whole genome sequencing (WGS). Although WGS is the best method for capturing the most complete spectrum of genetic variation, its uptake in clinical settings has been slow compared to more targeted strategies, largely due to its overall cost and the challenges of variant interpretation especially outside of the exome. In this session, speakers will discuss the clinical application of WGS in the settings of the critically ill newborn and in leukodystrophy, as well as an exciting new sequencing platform that may offer a novel approach to clinical WGS.

Learning Objectives:

Linnea Baudhuin

Associate Professor of Laboratory Medicine
Mayo Clinic

Linnea M. Baudhuin, PhD, is Associate Professor of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester, MN, USA. Dr. Baudhuin is co-director of the Personalized Genomics Laboratory and the Clinical Genome Sequencing Laboratory at Mayo Clinic. Dr. Baudhuin received her Ph.D. in Clinical Chemistry from Cleveland State University in conjunction with the Cleveland Clinic. She then completed fellowships in Clinical Chemistry and Clinical Molecular Genetics at Mayo Clinic. She is board certified in Clinical Molecular Genetics by the American Board of Medical Genetics and Genomics. Dr. Baudhuin’s clinical and research interests are related to Personalized Medicine and lie primarily in the areas of cardiovascular-related inherited disorders, pharmacogenomics, and next-generation sequencing.


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Adeline Vanderver

Associate Professor
University of Pennsylvania

Adeline Vanderver, MD, is an Attending Physician in the Division of Neurology at the Children's Hospital of Philadelphia (CHOP) and the Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics. She is also Program Director of the Leukodystrophy Center of Excellence at CHOP. Dr. Vanderver graduated with a degree in medicine from Universite Catholique de Louvain in Brussels, Belgium. She completed her residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington, DE, and Thomas Jefferson University in Philadelphia, PA. She then pursued a child neurology fellowship at Children's National Medical Center in Washington, DC, and a fellowship in biochemical genetics at the National Human Genome Research Institute/National Institutes of Health in Bethesda, MD.
Under Dr. Vanderver's leadership, the multidisciplinary Leukodystrophy Center team is focused on creating new standards of care for children with leukodystrophies by advancing leukodystrophy gene discovery, creating new therapies, and supporting and advocating for patients and their families. In parallel with this strong clinical program, Dr. Vanderver's preclinical and clinical research projects will aim to discover molecular therapeutics that target the genetics of leukodystrophy subtypes. Already, Dr. Vanderver is leading two clinical studies that intend to repurpose medications - one that is currently used to treat human immunodeficiency virus (HIV) and another that targets interferon - for patients with Aicardi-Goutieres syndrome. Another clinical trial underway is assessing the efficacy and utility of whole genome sequencing as a first-line diagnostic test for leukodystrophies. In addition to her clinical and research efforts, Dr. Vanderver leads the Global Leukodystrophy Initiative, an advocacy group that includes parents, clinicians and researchers, to raise disease awareness and ensure that patients receive appropriate social and medical support.


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Radoie (Rade) Drmanac

CSO of CompleteGenomics, SVP of BGI

Radoje (Rade) Drmanac PhD, ( is one of the founders of the field of Genomics. Dr. Drmanac invented and led the development of massively parallel DNA sequencing using DNA nanoarrays and long fragment read (LFR) technologies. Currently he serves as Director and Chief Scientific Officer (CSO) at Complete Genomics, Inc. (CGI) that he co-founded in Silicon Valley (California) in 2005 to develop an efficient and accurate individual genome sequencing (Science 2010, Nature 2012, Science 2012, Genome Research 2015, Hum Genomics 2016, Gigascience 2016, Cancer Res. 2017, Genet. Med. 2017). CGI was acquired by BGI (Shenzhen, China) in 2013 and Dr. Drmanac now serves as Senior VP of BGI. Earlier, he co-founded Hyseq in 1994. As Director, SVP and CSO, he led Hyseq's effort to discover and patent thousands of novel genes for its drug development pipeline. Prior to Hyseq, he was a group leader at US DOE Argonne National Labs (1991-1994) as part of Human Genome Project. He completed his postdoctoral studies in 1990 at ICRF in London. He started his career at the Center for Genetic Engineering (now IMGGI), in Belgrade, Serbia (1982-1988). He received his Ph.D. in Molecular Biology in 1988 at Belgrade University for the conception and pioneering development of the first massively parallel sequencing technology using DNA microarrays (Science 1993, Genomics 1989, Sci. Yugoslavica 1990). At the same university he received BS in Molecular Biology (1981).


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Madhuri Hegde

VP & CSO, Global Lab Services, PerkinElmer; Adjunct Professor of Human Genetics and Pediatrics, Emory University School of Medicine and Department of Integrative Medicine,
PerkinElmer/ Emory University School of Medicine/ Georgia Tech

Madhuri Hegde, PhD, FACMG 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.


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1B - Clinical Whole Genome Sequencing: Is It Time?
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5

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Send Email for Clinical Whole Genome Sequencing: Is It Time?
CME (AMA PRA Category 1 Credits™) 1.5; CEU (NSGC Category 1) 0.15; Attendance CEU 1.5