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What's next for whole genome sequencing?: Moving from research to diagnostics and beyond

This webinar is brought to you by the Science/AAAS Custom Publishing Office

What's next for whole genome sequencing?: Moving from research to diagnostics and beyond

01 June 2017

12:00 p.m. ET

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As the throughput of next-generation sequencers continues to improve and the cost of reagents declines, whole-genome sequencing (WGS) becomes increasingly cost-effective, making it a realistic possibility for use in a clinical setting. In this webinar, our speakers will discuss how they see WGS evolving as it moves closer to the clinic, highlighting the pros and cons of a whole-genome approach versus a targeted approach. They will also address the hurdles currently slowing implementation of WGS in the clinic, including the lack of reimbursement from medical insurance, the need to achieve the desired sequencing depth in the most cost-effective manner, and how best to manage the huge amounts of data generated.
During the webinar, the speakers will discuss:

  • The potential of WGS for cancer diagnosis
  • Challenges and solutions for research applications of WGS
  • The improved diagnostic utility of WGS compared to the current standard-of-care genetic testing.

This webinar will last for approximately 60 minutes

Speaker bios

Christian Marshall, Ph.D.

The Hospital for Sick Children
Toronto, Canada

Dr. Marshall is an associate director in the Division of Genome Diagnostics in the Department of Pediatric Laboratory Medicine at The Hospital for Sick Children (SickKids) in Toronto, Canada. He is an assistant professor in the Department of Laboratory Medicine and Pathobiology at the University of Toronto, and also serves as a scientist at SickKids’ Centre for Applied Genomics. As a postdoctoral fellow at SickKids, he focused on characterizing structural variation in the human genome and developing techniques to analyze high-resolution microarray technology for identification of copy number variation associated with autism spectrum disorders.  In his current role in the diagnostic laboratory, Dr. Marshall is responsible for developing and overseeing next-generation sequencing diagnostics tests, including clinical whole-exome sequencing. His research focuses on applying new sequencing technologies to identify human genome variation and its relation to disease. As a principal investigator at the Centre for Genetic Medicine’s Genome Clinic, he is exploring the utility of whole-genome sequencing in pediatric medicine and its translation into clinical diagnostics.

Shashikant Kulkarni, M.S., Ph.D., FACMG

Baylor College of Medicine
Houston, TX

Dr. Kulkarni is a professor and vice chairman for research in the Department of Molecular and Human Genetics at Baylor College of Medicine in Houston, Texas. He is also the chief scientific officer and senior vice president (Operations) at Baylor Genetics. He trained at Harvard Medical School, Imperial College London, and the All India Institute of Medical Sciences. Previously, he was a professor in the Departments of Pathology & Immunology, Pediatrics, and Genetics at Washington University School of Medicine in St. Louis, as well as director of cytogenomics and molecular pathology. His major research focus is in cancer genomics, specifically the clinical application of next-generation sequencing (NGS) to characterize cancer genomes, transcriptomes, and epigenomes to drive precision genomic medicine. Dr. Kulkarni is leading efforts to define NGS standards in clinical diagnostics by means of his collaboration with the Centers for Disease Control and Prevention through the Clinical Next-Generation-Sequencing Quality Standards National Working Group, the U.S. Food and Drug Administration, and as cochairman of the Clinical Laboratory Standards Institute for microarray-based clinical genomic diagnostics. He is considered an expert in the field of clinical genomics and NGS technology. He is on the editorial board of several peer-reviewed journals and is editor-in-chief of Cancer Genetics. He coedited the book Clinical Genomics: A Guide to Clinical Next-Generation Sequencing. As cochairman of the Somatic Cancer Workgroup of the Clinical Genome Resource (ClinGen), Dr. Kulkarni is developing authoritative information on the millions of genomic variants relevant to human disease and the hundreds that are expected to be useful for clinical practice.

Sean Sanders, Ph.D.

Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently Dr. Sanders is the Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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