CONFERENCE SERIES: Genomics
Recorded at: The Clinical Genome Conference
About this Product:
Part 1:
The Diagnostic Odyssey for Genome Sequencing
The move to push genome sequencing into routine clinical practice requires arguably as much skill in navigating bureaucracy as mapping and interpreting base pairs. This digital course provides practical information on crafting clinical sequencing and analysis pipeline strategies while navigating the route of CAP and CLIA certification by those who have sailed through these uncharted waters.
Part 2:
The Saga of Genomic Interpretation for Physicians, Payers, Patients
To succeed, clinical genome sequencing must have the ability to enhance medical decision making. Primary care physicians are often on the front line of responding to "what does this mean/what do I do?" questions. Their informed response is a saga of detailed reports including 1) physicians who order the genomic test 2) laboratory testing personnel who run the test and generate the data 3) bioinformaticists who prepare reports by aligning, annotating, and analyzing the genomic data 4) molecular pathologists who interpret the data and confirm clinical relevance 5) physicians who communicate results back to the patients 6) genetic counselors who advise patients and 7) patients who respond to treatment. Step by step informed decisions will lead to the success of the clinical genomics saga.
About this Product:
5 Presentations
179 Slides
Over 193 Minutes
Individual: $345
Site License: $1380
Agenda At A Glance:
Part 1:
Development of Laboratory Standards for Next-Generation Sequencing as a Clinical Tool
Nazneen Aziz, Ph.D., Director of Molecular Medicine, Transformation Program Office, College of American Pathologist
Biography: Dr. Aziz is the Director of Molecular Medicine in the Transformation Program Office at the College of American Pathologists and Co-Founder of Vitrimark. In her prior positions, Dr. Aziz was Vice President of Research and Development at Interleukin Genetics, Vice President of External Research at Point Therapeutics and Director of Translational Research at Novartis Institute of Biomedical Research. In her industry career, she has focused on biomarker and genetic test development and development of drugs for cancer and diabetes. Prior to joining the biotechnology industry, she was Assistant Professor at Harvard Medical School and worked on the discovery of new genes and their function in recessive polycystic kidney disease.
Implementing Tools and Platforms to Support Interpretation of Clinical Diagnostic Whole Genome Sequencing Data
Elizabeth A. Worthey, Ph.D., Assistant Professor, The Human and Molecular Genetics Center, Pediatrics, Bioinformatics, Medical College of Wisconsin
Part 2:
Delivering the Message: Translating Complex Genomic Data for Providers and Patients
Elissa Levin, Vice President, Genomic Services, Navigenics, Inc.
Biography: Ms. Levin serves as Vice President of Genomic Services for Navigenics, and is a nationally-recognized leader in developing new models for the delivery of cutting-edge personal genetic and genomic services. As a board-certified Genetic Counselor whose experience ranges from the research lab to medical centers to the Internet, she is dedicated to developing forward-thinking approaches to responsibly realize the promise of personalized medicine as genetic and genomic technologies enter clinical practice. Ms. Levin was most recently Director of Clinical Services at DNA Direct, Inc., where she helped pioneer the first direct-to-consumer genetic counseling service, providing testing, education and counseling services for specific medical conditions. Ms. Levin earned a Master of Science degree in genetic counseling from Arcadia University in Philadelphia and is certified by the American Board of Genetic Counseling. Her broader efforts to improve healthcare by setting high standards for providing novel approaches to genetics support services have led to a broad range of media appearances and nationwide lectures and workshops.
Implementing Next-Generation Sequencing at the Mayo Clinic: The Coming Revolution!
David I. Smith, Ph.D., Professor, Department of Laboratory Medicine and Pathology; Chairman, Technology Assessment Group, Center for Individualized Medicine, Mayo Clinic
Biography: Dr. Smith is a Professor in the Department of Laboratory Medicine and Pathology at the Mayo Clinic. He runs an active research laboratory studying the molecular alterations that underlie cancer development. His group also studies long non-coding RNAs and the role that they play in cancer development. He is also the Chairman of the Technology Assessment Group for the Center for Individualized Medicine. The most exciting technological development in recent years has to be the advances that have been made in DNA sequencing. The utilization of massively parallel sequencing in so-called next-generation sequencers has resulted in dramatic improvements in sequence output and concomitantly dramatic decreases in the cost of genome sequencing. These technologies are rapidly being incorporated into modern medical practice and this is the topic of the talk that Dr. Smith will give.
A Pilot Study on Interpretation, Attitudes and Behavioral Impact of Personal Genomes in Knowledgeable Professionals
Francisco M. De La Vega, D.Sc., Department of Genetics, Stanford University School of Medicine
Biography: Dr. De La Vega is an accomplished Genomics and Computational Biology Scientist. He spent 13 years at Applied Biosystems (currently Life Technologies), where he was the Distinguished Scientific Fellow, Vice President of Next-Generation Sequencing Applications, and a distinguished inventor, founding member of the Life Technologies’ i2 (Invention x Innovation) Society. He is currently a Visiting Instructor at the Department of Genetics of the Stanford University School of Medicine where he studies the structure of human populations through whole-genome sequencing, how to interpret this variation for clinical purposes and coordinates a research project where knowledgeable genetics professionals are being sequenced to obtain a medical interpretation of their genomes. Francisco earned his Doctor of Science degree in Genetics and Molecular Biology at CINVESTAV (Mexico), studying the genetic regulation of protein biosynthesis in the bacteria/bacteriophage system with emphasis in the computational analysis.
About the Conference:
The free falling cost of whole genome sequencing raises the possibility – some say the inevitability – of applying this revolutionary technology in the clinic. More and more medical geneticists are proposing the idea of a "sequence once, read often" approach to preventive medicine. However, huge challenges spanning the scientific, regulatory, ethical and financial arena's stand in the way of clinical genome sequencing becoming part of mainstream medicine. Unlike the research world, clinicians need efficient and repeatable processes, but are confronted by a plethora of platforms, software tools, and databases, and few if any best practices in interpreting, storing and sharing a patient's genome data. Cambridge Healthtech Institute and Bio-IT World are proud to announce TCGC: The Clinical Genome Conference, inviting stakeholders from all arenas impacting clinical genomics to share new findings and solutions in advancing the application of clinical genome sequencing.