Research interests: Disorders of sexual differentiation, Hereditary eye disorders
Dr. Pagon is the Prinicpal Investigator for GeneTests: Genetic Testing Information Resource. GeneTests (http://www.ncbi.nlm.nih.gov/sites/GeneTests/) is the primary Internet-accessible database that helps clinicians identify genetic testing laboratories and apply genetic testing to patient care. It has become the most important database of its type internationally. Originally a research project, GeneTests is now supported by a contract from the National Institutes of Health (NIH). She is also collaborating with Dr. Michael Wilkes of UC Davis and Dr. Wylie Burke at the University of Washington to develop for primary care residents a web-based curriculum focused on ethical, legal, and social issues related to the use of genetic testing. Dr. Pagon is also working with the Office for Rare Disorders (ORD) at the NIH to develop a process to facilitate translation of genetic testing from research laboratories into clinical practice.
Dr. Pagon's clinical interest are hereditary eye disorders and disorders of sexual differentiation. In addition to seeing patients at Seattle Children's, she attends in the genetics clinics in the Washington State Regional Genetics Program (Bellingham, Tacoma, Spokane, and Yakima) and co-directs the Alaska Genetics Clinic.
She served on the Board of Directors of the American Board of Medical Genetics, Inc. from 1998-2004 and served as its President from 2002-2004. She was on the Board of Scientific Counselors, National Human Genome Research Institute,and the National Institutes of Health. She currently serves on the Board of Directors of the American Society of Human Genetics.