MAR 22, 2016 8:15 AM PDT

The Top Ten Laboratory Tests

  • Professor, Department of Pediatrics; Chief, Division of Genomic Medicine, UC Davis
      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.
    • Clinical Professor, UCSF School of Medicine; Chief Medical Officer, Invitae Corp
        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.

      Genetic testing has been an important component of medical care for decades but the breadth and impact of testing has been steadily increasing as medical knowledge increases, appreciation of clinical utility expands, and the cost of DNA sequencing falls. In this session, two geneticists, Dr. Katherine Rauen, who specializes in pediatric genetics, and Dr. Robert Nussbaum, who specializes in adult genetic disorders, will present their “Top Ten” scenarios for which genetic testing is indicated. Conditions were chosen based on their frequency and the likelihood that they would be seen by general pediatricians and internists, including developmental delay, autism, hereditary breast and ovarian cancer, hereditary colon cancer, and others. The session will cover a broad spectrum of genetic testing, emphasizing appropriate testing for different indications and highlighting the strengths and weaknesses of different testing modalities.

      Learning Objectives:
      • Describe which aspects of a patient’s history and family history raise the possibility of a hereditary condition for which genetic testing would be indicated and how genetic testing would help in the care of the patient and family.
      • Recognize that different genetic tests are relevant and appropriate for different indications, reflecting the strengths and limitations of different types of testing. 

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