Roberta A. Pagon, MD

Roberta A. Pagon, MD


On staff since March 1979

Roberta A. Pagon, MD, is professor of pediatrics and adjunct professor of ophthalmology at the University of Washington School of Medicine. She is principal investigator for GeneTests: Genetic Testing Information Resource (, a widely used NIH-funded Internet resource that helps clinicians identify genetic testing laboratories and apply genetic testing to the diagnosis, management, and genetic counseling of patients and their families with inherited disorders.

Pagon’s clinical interests have included the identification and management of inherited birth defect syndromes, hereditary eye disorders, and disorders of sex development. Pagon has served on the Board of Directors of the American Society of Human Genetics, the Board of Directors of the American Board of Medical Genetics, and the Board of Scientific Counselors, the National Human Genome Research Institute of the NIH.


Medical/Professional School

Harvard Medical School, Boston


Pediatrics, University of Washington, Seattle


Medical Genetics, University of Washington, Seattle

Clinical Interests

Clinical interests: syndrome identification inherited eye disease, disorders of sexual differentiation, Research Interests: Genetics, genetic testing information resources (i.e.

Research Focus Area

Genetics and Developmental Biology

Awards and Honors

Award Name Award Description Awarded By Award Date
"Guide to America's Top Pediatricians" Consumer's Research Council of America 2009


  • Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ
    Partial ATRX gene duplication causes ATR-X syndrome.
    American journal of medical genetics. Part A , 2009 Oct. : 2317-20
  • Khoury MJ, Bertram L, Boffetta P, Butterworth AS, Chanock SJ, Dolan SM, Fortier I, Garcia-Closas M, Gwinn M, Higgins JP, Janssens AC, Ostell J, Owen RP, Pagon RA, Rebbeck TR, Rothman N, Bernstein JL, Burton PR, Campbell H, Chockalingam A, Furberg H, Little J, O'Brien TR, Seminara D, Vineis P, Winn DM, Yu W, Ioannidis JP
    Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases.
    American journal of epidemiology , 2009 Aug. 1 : 269-79
  • Waggoner DJ, Pagon RA
    Internet resources in medical genetics.
    Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2009 July : Unit 9.12
  • Lubin IM, McGovern MM, Gibson Z, Gross SJ, Lyon E, Pagon RA, Pratt VM, Rashid J, Shaw C, Stoddard L, Trotter TL, Williams MS, Amos Wilson J, Pass K
    Clinician perspectives about molecular genetic testing for heritable conditions and development of a clinician-friendly laboratory report.
    The Journal of molecular diagnostics : JMD , 2009 Mar. : 162-71
  • Lubin IM, Caggana M, Constantin C, Gross SJ, Lyon E, Pagon RA, Trotter TL, Wilson JA, McGovern MM
    Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.
    The Journal of molecular diagnostics : JMD , 2008 Sept. : 459-68
  • Faucett WA, Hart S, Pagon RA, Neall LF, Spinella G
    A model program to increase translation of rare disease genetic tests: collaboration, education, and test translation program.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2008 May : 343-8
  • Pagon RA
    2006 ASHG Award for Excellence in Human Genetics Education. GeneTests: Integrating genetic services into patient care.
    American journal of human genetics , 2007 Oct. : 658-9
  • Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE, Gunther DF, Kletter GB, McCauley E, Mitchell ME, Opheim KE, Pihoker C, Richards GE, Soules MR, Pagon RA
    A Gender Assessment Team: experience with 250 patients over a period of 25 years.
    Genetics in medicine : official journal of the American College of Medical Genetics , 2007 June : 348-57
  • Pagon RA
    Internet resources in Medical Genetics.
    Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] , 2006 Aug. : Unit 9.12
  • Pagon RA
    GeneTests: an online genetic information resource for health care providers.
    Journal of the Medical Library Association : JMLA , 2006 July : 343-8
  • Pagon RA
    Genetic testing: when to test, when to refer.
    American family physician , 2005 July 1 : 33-4
  • Pagon RA
    Molecular genetic testing for inherited disorders.
    Expert review of molecular diagnostics , 2004 Mar. : 135-40
  • Sock E, Pagon RA, Keymolen K, Lissens W, Wegner M, Scherer G
    Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
    Human molecular genetics , 2003 June 15 : 1439-47
  • Pagon RA
    Genetic testing for disease susceptibilities: consequences for genetic counseling.
    Trends in molecular medicine , 2002 June : 306-7
  • Parisi MA, Kletter GB, Grady R, Mitchell M, Ramsdell LA, Pagon RA
    Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?
    American journal of medical genetics , 2002 May 15 : 271-7
  • Pagon RA, Tarczy-Hornoch P, Baskin PK, Edwards JE, Covington ML, Espeseth M, Beahler C, Bird TD, Popovich B, Nesbitt C, Dolan C, Marymee K, Hanson NB, Neufeld-Kaiser W, Grohs GM, Kicklighter T, Abair C, Malmin A, Barclay M, Palepu RD
    GeneTests-GeneClinics: genetic testing information for a growing audience.
    Human mutation , 2002 May : 501-9