MAR 22, 2016
GENETICS IN YOUR CLINIC: WHAT YOU CAN AND SHOULD DO NOW
27 94 28240

Applying the Latest Genetics Findings to Your Practice
An ASHG Global Virtual Meeting, March 22, 2016
 
5am Pacific, 8am Eastern, 1pm GMT

Primary audience: Primary care clinicians

Other audiences: All health care professionals, including genetic counselors, PAs, LPNs, NPs, RNs, clinical geneticists, physicians in practice, genetics researchers, and others

As we learn more about the contribution of genetic and genomic factors to the origin, natural history, and treatment of human disease, clinicians are assuming more responsibility for ordering genetic tests for their patients. This, plus the emergence of Precision Medicine and the growing availability of direct-to-consumer genetic tests, adds to the need for clinicians to understand available tests and how to use them. Increasingly often, health care professionals are expected to:

  • Understand the utility and significance of these tests
  • Provide appropriate pre-test education and counseling
  • Convey test results in an informative and compassionate way
  • Use the results in patient management

In this free virtual meeting organized by the American Society of Human Genetics, physicians and other health care professionals will learn from human genetics experts about:

  • Genetic technologies currently available for use in the clinic
  • The limitations of these technologies
  • Information in personal and family histories that indicate a need for genetic testing
  • How to interpret results in ways most useful to the patient
  • When to refer to specialized genetic services

Participants will also receive a Genetics Tool Kit, which will include all meeting slide sets, links to relevant information from professional societies, directories of genetic testing providers and medical genetics specialists, and resources for physicians and patients. One 45-minute session will provide identical content in English and Spanish, and resources in both languages will be available in the Tool Kit. 

This meeting will be free of charge to participants. Continuing education credits, including free CME credits, will be offered.  Please Click here for more information on how to obtain your credits. 
 


Speakers:
  • Professor, Harvard Medical School, Director of Cytogenetics, Brigham and Women's Hospital
  • Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
  • Professor, Department of Pediatrics; Chief, Division of Genomic Medicine, UC Davis
  • Clinical Professor, UCSF School of Medicine; Chief Medical Officer, Invitae Corp
  • Professor, Dept of Medicine, Director, Division of Medical Genetics, University of Washington
  • Acting Assistant Professor, Department of Laboratory Medicine, University of Washington
  • Licensed Genetic Counselor, Division of Medical Genetics, University of Washington Medical Center
  • Chief Laboratory Director, Partners Laboratory for Molecular Medicine, Medical Director, Broad Institute Clinical Research Sequencing Platform, Associate Professor of Pathology, Brigham & Wom
  • Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor
  • Clinical Advisor, Division of Policy, Communications, and Education, NHGRI, NIH

Show Resources
Agenda
All times are Pacific Time
  • MAR 22, 2016 07:00 AM PDT
    Speaker: Bruce R Korf, MD, PhD
  • MAR 22, 2016 08:15 AM PDT
    The Top Ten Laboratory Tests
    Katherine Rauen, MD, MS, PhD
    Professor, Department of Pediatrics; Chief, Division of...
    Robert Nussbaum, MD
    Clinical Professor, UCSF School of Medicine; Chief Medi...
  • MAR 22, 2016 09:30 AM PDT
    Fuki Hisama, MD, FACMG, FAAN
    Professor, Dept of Medicine, Director, Division of Medi...
    Eric Konnick, MD, MS
    Acting Assistant Professor, Department of Laboratory Me...
    Laura Amendola, MS CGC
    Licensed Genetic Counselor, Division of Medical Genetic...
  • MAR 22, 2016 11:30 AM PDT
    Speaker: Carlos Bacino, MD
  • MAR 22, 2016 11:30 AM PDT
    Speaker: Heidi Rehm, PhD, FACMG
  • MAR 22, 2016 12:45 PM PDT
    Speaker: Jean Jenkins, PhD, RN, FAAN
  • MAR 22, 2016 07:00 AM PDT
    Speaker: Bruce R Korf, MD, PhD
  • MAR 22, 2016 08:15 AM PDT
    The Top Ten Laboratory Tests
    Katherine Rauen, MD, MS, PhD
    Professor, Department of Pediatrics; Chief, Division of...
    Robert Nussbaum, MD
    Clinical Professor, UCSF School of Medicine; Chief Medi...
  • MAR 22, 2016 09:30 AM PDT
    Fuki Hisama, MD, FACMG, FAAN
    Professor, Dept of Medicine, Director, Division of Medi...
    Eric Konnick, MD, MS
    Acting Assistant Professor, Department of Laboratory Me...
    Laura Amendola, MS CGC
    Licensed Genetic Counselor, Division of Medical Genetic...
  • MAR 22, 2016 11:30 AM PDT
    Speaker: Carlos Bacino, MD
  • MAR 22, 2016 11:30 AM PDT
    Speaker: Heidi Rehm, PhD, FACMG
  • MAR 22, 2016 12:45 PM PDT
    Speaker: Jean Jenkins, PhD, RN, FAAN
Speakers

  • Cynthia Morton, PhD
    Professor, Harvard Medical School, Director of Cytogenetics, Brigham and Women's Hospital
    Biography
      Cynthia Casson Morton received her Bachelor of Science degree from the College of William and Mary in Virginia and her Ph.D. in Human Genetics from the Medical College of Virginia in Richmond. She is the William Lambert Richardson Professor of Obstetrics, Gynecology and Reproductive Biology and Professor of Pathology at Harvard Medical School, Director of Cytogenetics and Past Director of the Biomedical Research Institute at Brigham and Women's Hospital. She is an Institute Member of the Broad Institute of MIT and Harvard. Dr. Morton is an adjunct faculty member of the University of Manchester where she holds a position as Chair in Auditory Genetics. Dr. Morton is certified by the American Board of Medical Genetics in Ph.D. Medical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. Her research interests are in molecular cytogenetics, hereditary deafness, genetics of uterine leiomyomata and human developmental disorders. She has published over 275 original articles. Dr. Morton is a past member of the Board of Directors of the American Board of Medical Genetics. She was the Chair of the Molecular Genetic Pathology Policy and Exam Committees of the American Board of Medical Genetics and the American Board of Pathology. She served as Member and Chair of the Board of Scientific Counselors of the National Institute of Deafness and Other Communication Disorders, and as Member and Chair of the Board of Regents of the National Library of Medicine. Dr. Morton is currently a member of the Counsel of Scientific Trustees of the Hearing Health Foundation, and Chair of the Veteran's Administration Genomic Medicine Program Advisory Committee. Dr. Morton is a member of the Board of Directors of the American Society of Human Genetics and served as the 2014 President. She recently completed a six year tenure as Editor of The American Journal of Human Genetics and is currently Co-Editor of Human Genetics.
    • Bruce R Korf, MD, PhD
      Professor and Chair, Department of Genetics, Director, Heflin Center for Genomic Sciences, UAB
      Biography
        Dr. Korf is Wayne H. and Sara Crews Finley Chair in Medical Genetics, Professor and Chair of the Department of Genetics, Director of the Heflin Center for Genomic Sciences at UAB, and Co-Director of the UAB-HudsonAlpha Center for Genomic Medicine. He is a medical geneticist, pediatrician, and child neurologist, certified by the American Board of Medical Genetics (clinical genetics, clinical cytogenetics, clinical molecular genetics), American Board of Pediatrics, and American Board of Psychiatry and Neurology (child neurology). Dr. Korf is past president of the Association of Professors of Human and Medical Genetics, past president of the American College of Medical Genetics and Genomics, and current president of the ACMG Foundation for Genetic and Genomic Medicine. He has served on the Board of Scientific Counselors of the National Cancer Institute and the National Human Genome Research Institute at the NIH. He chairs the Medical Advisory Committee of the Children's Tumor Foundation and serves on the CTF Board of Directors. His major research interests are molecular diagnosis of genetic disorders and the natural history, genetics, and treatment of neurofibromatosis. He serves as principal investigator of the Department of Defense funded Neurofibromatosis Clinical Trials Consortium. He is co-author of Human Genetics and Genomics (medical student textbook, now in fourth edition), Medical Genetics at a Glance (medical student textbook, now in third edition), Emery and Rimoin's Principles and Practice of Medical Genetics (now in 6th edition), and Current Protocols in Human Genetics.
      • Katherine Rauen, MD, MS, PhD
        Professor, Department of Pediatrics; Chief, Division of Genomic Medicine, UC Davis
        Biography
          Katherine (Kate) Rauen, MD, PhD is a Professor in the Department of Pediatrics, Division of Genomic Medicine at the UC Davis where she currently serves as the Chief of Genomic Medicine. She received a MS in Human Physiology and a PhD in Genetics from UC Davis doing research on gene dosage compensation and genetic evolution. She obtained her MD at UC Irvine where she also did research in cancer genetics. Dr. Rauen did her residency training in Pediatrics and fellowship in Medical Genetics at UC San Francisco. Dr. Rauen is internationally known for her pioneering work in the application of array CGH in clinical genetics and as a leader and major contributor to the understanding of the "RASopathies", the Ras/MAPK pathway genetics syndromes. Her research program involves the clinical and basic science study of cancer syndromes with effort to identify underlying genetic abnormalities affecting common developmental and cancer pathways. Dr. Rauen led the research team, including the CFC International Family Support Group that discovered the genetic cause of cardio-facio-cutaneous syndrome. Dr. Rauen is committed to academic medicine, medical education, and advancing best practices for patients with RASopathies. She has successfully obtained both intramural and extramural funding for her research activities, and currently holds a 5-year NIH grant studying skeletal myogenesis in Costello syndrome and CFC. She is the innovator of the world-renowned NF/Ras Pathway Clinic which she initiated in 2007 and this clinic has now been emulated around the globe. She serves on the medical advisory board of CFC International and is a Co-Director for the Costello Syndrome Family Network. Dr. Rauen was recently awarded the Presidential Early Career Award for Scientists and Engineers (PECASE), the highest honor bestowed by the United States Government on science and engineering professionals in the early stages of their independent research careers.
        • Robert Nussbaum, MD
          Clinical Professor, UCSF School of Medicine; Chief Medical Officer, Invitae Corp
          Biography
            Dr. Robert L. Nussbaum, a board certified internist and medical geneticist, specializes in the care of adults with hereditary disorders. He was previously chief of Genomic Medicine at UCSF Medical Center and co-director of the Program in Cardiovascular Genetics at the UCSF Heart and Vascular Center, which cares for patients with inherited disorders of heart muscle, heart rhythm and large arteries, such as the aorta. Nussbaum is a physician and clinical geneticist with an intense interest in molecular genetics testing and its role in the provision of medical care and disease prevention. He carried out research for over 35 years in the area of cell biology of phosphoinositides and neurodegenerative disease due to abnormalities in alpha-synuclein.
          • Fuki Hisama, MD, FACMG, FAAN
            Professor, Dept of Medicine, Director, Division of Medical Genetics, University of Washington
            Biography
              Dr. Hisama is Professor of Medicine (Medical Genetics) and Adjunct Professor of Neurology, Director of the University of Washington Genetic Medicine Clinic, and Program Director of the Genetics Residency Program. She was trained as both a neurologist and a clinical geneticist, and is board certified in both specialties. She was Chief Resident of Neurology at Yale New Haven Hospital, and has received a Lucille P. Markey Physician Scientist Fellowship, a John A. Hartford Foundation Award in Aging, and was named a Paul Beeson Physician Faculty Scholar. She is an elected Fellow of the American Academy of Neurology, a Fellow of the American College of Medical Genetics, and a member of the American Society of Human Genetics. She was elected to the Board of Directors of the American Board of Medical Genetics and Genomics beginning in 2016. Her current research interests include the genetics of Werner syndrome and atypical progeroid (premature aging) syndromes, pediatric and adult neurogenetics, genetics of autism and genetics of polyposis/colon cancer. Her clinical interests and experience are broad and encompass cancer genetics, neurogenetics, adult cardiovascular genetics, and genetics of autism. She has been recognized as a "Top Doctor" by her peers in Seattle Magazine and Seattle Metropolitan Magazine.
            • Eric Konnick, MD, MS
              Acting Assistant Professor, Department of Laboratory Medicine, University of Washington
              Biography
                Eric Quentin Konnick, MD, MS, earned his BS in Biology at the University of Utah, and was a research and development scientist at Associated Regional and University Pathologists (ARUP) laboratories for 7 years prior to enrolling in medical school. During this time he developed numerous tests for the molecular and serologic Hepatitis/Retrovirus laboratories, designed and implemented multiple informatics applications, and earned his master's degree in Laboratory Medicine and Biomedical Science. He completed his MD at the University of Utah and is currently a senior AP/CP resident at the University of Washington, where he is also a Molecular Genetic Pathology fellow.
              • Laura Amendola, MS CGC
                Licensed Genetic Counselor, Division of Medical Genetics, University of Washington Medical Center
                Biography
                  Laura Amendola is a genetic counselor in the University of Washington Medical Center, Genetic Medicine Clinic and is the manager of the NHGRI funded UW New Exome Technology in (NEXT) medicine study. Ms. Amendola provides genetic counseling to patients referred to the Genetic Medicine Clinic for a variety of indications including inherited cancer syndromes and neurogenetic conditions. The NEXT Medicine study is exploring the incorporation of whole exome sequencing technology into clinical care for patients being evaluated for hereditary colorectal cancer and/or polyps. Ms. Amendola consents and returns results to NEXT Medicine study participants and has a central role in the interpretation of variants identified by exome sequencing. Ms. Amendola graduated from Queen's University, in Ontario Canada, in 2006 with a B.S. in biology and psychology and received her M.S. in genetic counseling from the University of Texas, Graduate School of Biomedical Sciences in 2009. She became board certified by the American Board of Genetic Counseling in 2010. Before joining the UWMC Genetic Medicine Clinic, Ms. Amendola worked as a clinical genetic counselor for 2 years in adult, pediatric and prenatal genetics in central Texas.
                • Heidi Rehm, PhD, FACMG
                  Chief Laboratory Director, Partners Laboratory for Molecular Medicine, Medical Director, Broad Institute Clinical Research Sequencing Platform, Associate Professor of Pathology, Brigham & Wom
                  Biography
                    Dr. Rehm is a board-certified clinical molecular geneticist and genomic medicine researcher. She is the Chief Laboratory Director at the Partners Laboratory for Molecular Medicine, the Medical Director of the Broad Institute Clinical Research Sequencing Platform, and Associate Professor of Pathology at Brigham & Women's Hospital and Harvard Medical School. Both of her clinical labs focus on the rapid translation of new genetic discoveries into clinical tests and bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use.
                  • Carlos Bacino, MD
                    Chief, Genetics Service, Texas Children's Hosp; Medical Director, Cytogenetics Laboratory, Baylor
                    Biography
                      I am primarily dedicated to clinical activities in the Department of Molecular and Human Genetics. In the area of clinical genetics, I am involved in the diagnosis and management of patients with birth defects and a variety of genetic disorders and participate in the Skeletal Dysplasia Clinic. I am directly involved in the supervision and training of medical students, residents, and fellows. As the Medical Director of the Kleberg Cytogenetics Laboratory, I have a particular interest in structural chromosomes abnormalities and genomic disorders (contiguous gene deletion/duplication syndromes), as well as the mechanism of origin of these chromosome anomalies. In addition, I have one major area of interest: Epigenetics and Disorders of Imprinting: In collaboration with Dr. Arthur Beaudet and Dr. Lisa Noll we are conducting a natural history study for children with Angelman syndrome supported by the Rare Disease Center Research Network (NIH). A group of Angelman syndrome patients are being brought to the Clinical Research Center at Texas Children's Hospital for developmental, clinical and EEG evaluations on a yearly basis. This is allowing us to understand progression, complications and co-morbidities. We have recently concluded two different studies using betaine, creatine and folic acid/metafolin to promote methylation and revert silencing of the paternal allele. This trial attempted to ameliorate the symptoms of Angelman syndrome by altering patterns of imprinting.
                    • Jean Jenkins, PhD, RN, FAAN
                      Clinical Advisor, Division of Policy, Communications, and Education, NHGRI, NIH
                      Biography
                        Dr. Jean F. Jenkins is a clinical advisor for the Division of Communication, Policy, and Education at the National Human Genome Research Institute (NHGRI), NIH. Previously, she worked at the NIH Clinical Center Nursing Department, the National Cancer Institute, and the Genomic Healthcare Branch, NHGRI. Dr. Jenkins received her B.S.N. from the University of Maryland, an M.S.N. at the Catholic University of America, and her Ph.D. from the George Mason University, Virginia, in 1999, completing Innovation of Diffusion Research on Genetics Education for Nurses. It was during a clinical internship as part of her doctoral studies that she recognized the importance of advances in genetics research for all healthcare providers. Dr. Jenkins has been motivated and committed to preparing others to become aware of, plan for and integrate genetic concepts into clinical practice. In 2005, she received the Michael J. Scotti Jr. Award for National Coalition for Health Professional Education in Genetics (NCHPEG) efforts as the content and instruction co-chair when she coordinated the development and consensus of the NCHPEG competencies. Building on these efforts, Dr. Jenkins co-coordinated the development of the Essential Nursing Competencies and Curricula Guidelines for Genetics and Genomics, which led to the development of an interdisciplinary education resource repository (http://www.g-2-c-2.org/ ) and a web-based case-scenarios resource (http://www.g-3-c.com/).
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                      Planning Committee

                       

                       

                      Cynthia C. Morton, Planning Committee Chair
                      William Lambert Richardson Professor of Obstetrics, Gynecology, and Reproductive Biology Professor of Pathology, Harvard Medical School
                      Director of Cytogenetics, Brigham and Women's Hospital

                       

                      Gorka Alkorta-Aranburu, PhD
                      Clinical Molecular Fellow
                      The University of Chicago, Genetic Services

                       

                      Sally A. Camper, PhD
                      Department of Human Genetics
                      University of Michigan

                       

                      Adam M Hott, EdD
                      Digital Applications Lead
                      HudsonAlpha Institute for Biotechnology

                       

                      W. Andrew Faucett, MS, LGC
                      Director of Policy and Education
                      Office of the Chief Scientific Officer
                      Geisinger Health System

                       

                      Gail P. Jarvik, MD, PhD
                      Head, Division of Medical Genetics
                      The Arno G. Motulsky Endowed Chair in Medicine
                      Professor of Genome Sciences
                      University of Washington Medical Center

                       

                      Bob Wildin, MD
                      Chief, Genetic Healthcare Branch
                      NHGRI-NIH

                       

                      Cinthya Zepeda, PhD
                      Postdoctoral Research Fellow
                      Morton laboratory
                      Brigham and Women's Hospital
                      Harvard Medical School

                       

                      Anthony Antonellis, PhD, Program Committee Liaison
                      Associate Professor of Human Genetics
                      Associate Professor of Neurology
                      University of Michigan Medical School
                      Department of Human Genetics

                       

                      Jean F. Jenkins, PhD, RN, FAAN, Nursing Curriculum Advisor
                      Clinical Advisor, Division of Policy, Communications, and Education
                      NHGRI, NIH

                       

                      ASHG Staff Contacts:
                       

                      General information: Lucia P. Barker, Ph.D., ASHG Scientific Program Manager.
                      lbarker@ashg.org


                      Exhibit information: Carrie Morin, CEM, ASHG Exhibits, Sponsorship, and Meeting Marketing Manager.
                      cmorin@ashg.org


                      Communications: Nalini Padmanabhan, MPH, ASHG Communications Manager.
                      NPadmanabhan@ashg.org
                       

                       


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