MAR 22, 2016 9:30 AM PDT

Tales from the Clinic

  • Professor, Dept of Medicine, Director, Division of Medical Genetics, University of Washington
      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.
    • Acting Assistant Professor, Department of Laboratory Medicine, University of Washington
        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.
      • Licensed Genetic Counselor, Division of Medical Genetics, University of Washington Medical Center
          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.

        Medical genetics is a specialty of medicine that encompasses patients at all ages (prenatal, pediatric, adult), as well as all organ systems. As the genetic causes of more diseases have been discovered, medical genetics has grown beyond the traditional settings of prenatal and pediatric care, and now plays an important role in neurology, oncology, cardiology, preventive care, and precision medicine. Medical genetics providers include: physicians who are board-certified in clinical genetics, genetic counselors, who are master’s level professionals, and clinical laboratory directors, who may hold either an M.D., or a Ph.D. This session will feature a panel consisting of a three experienced genetics professionals from the University of Washington in Seattle (UW). The Genetic Medicine Clinic at UW was founded in 1959, and one of the oldest, largest, and most diverse genetics clinics for adults in the country. The Clinic serves >2,300 patients per year, including >1,000 cancer genetic patients, and >500 neurogenetic patients.
        Dr. Hisama, Ms. Amendola and Dr. Konnick will present some of their memorable or challenging cases, highlight the “team approach” and contributions of each of their specialties to patient care, and answer questions about cases submitted from the virtual meeting attendees in real time.
        This session is designed for health care providers to become familiar with situations when a patient can benefit from genetic consultation, and the different roles of board-certified genetics professionals.

        Learning Objectives:
        • Participate in a clinical case conference regarding patients with genetic conditions.
        • Describe at least two implications of genetic testing for medical care.
        • Discuss clinical scenarios where genetic evaluation is indicated, and some scenarios where it is not useful.

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