Roberta A. Pagon

Roberta A. Pagon, MD

Professor, SOM: Pediatrics: Genetic Medicine: Genetic Medicine

Clinical Genetics;
Director, GeneReviews

University of Washington
Box 358735
Seattle, WA 98195-8735
Phone: 206 221-4674
Seattle Children's Profile

Research interests: Disorders of sexual differentiation, Hereditary eye disorders

Dr. Pagon is the Prinicpal Investigator for GeneTests: Genetic Testing Information Resource. 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.

Faculty and Staff Directory

Division Chief

Bamshad, Michael J., MD


Adam, Margaret L.P., MD
Beck, Anita E., MD, PhD
Beier, David Randolph, MD, PhD
Bennett, James, MD PhD
Cherry, Timothy, PhD
Dipple, Katrina, MD
Dobyns, William B., MD
Doherty, Daniel A., MD, PhD
Glass, Ian A., MD, MB ChB
Hahn, Sihoun, MD, PhD
Hing, Anne V., MD
Lam, Christina, MD
Mefford, Heather C., MD, PhD
Merritt, J. Lawrence, MD
Millen, Kathleen J., PhD
Miller, Daniel G., MD, PhD
Mirzaa, Ghayda, MD
Osborne, William R.A., PhD
Pagon, Roberta A., MD
Scott, C. Ronald, MD
Sun, Angela, MD
Walker, Jr., William O., MD
Wallace, Stephanie E., MD


Aldinger, Kim, PhD
Carvill, Gemma, PhD
Chong, Jessica X, PhD
Gallego, Jabier, PhD
Geister, Krista, PhD
Ha, Seungshin, PhD
Myers, Candace, PhD
O'Day, Diana, PhD
Yu, Joon-Ho, MPH, PhD

Advanced Registered Nurse Practitioners

Earl, Dawn L., ARNP

Genetic Counselors

Conta, Jessie, MS, CGC
Golden-Grant, Katie L, MS, CGC
Jamal, Seema M., MSc, CGC, CCGC
Ramsdell, Linda, MS, CGC
Schubert, Penny, MS, CGC
Sternen, Darci, MS, CGC
Uhrich, Stefanie, MS, CGC

Research Staff

Amell, Amanda M., BS
Bacus, Tamara J., BS
Bofferding, Kathryn, BS
Buckingham, Kati, BS
Buroker, Norman E., PhD
Cook, Joseph, MS
Dempsey, Jennifer C., MPH
Elliott, Susan E.
Frasher, Vicki A.
Garretson, Janet, MSW
Gildersleeve, Heidi, MS
Harrell, Tanya, BS
Heard, Jeff, BS
Heffernan, Janie, MS, RD
Huang, Jie-Yu, PhD
Lam, Jennfier P., MS
McMillin, Maggie J., BS
Musick, Katie, BA
Ogata, Beth, MS, RD, CSP
Person, Richard E.
Petek, Lisa, BS
Phelps, Ian, BS
Ragothaman, Kevin, BS
Shanker, Aditi, BA
Trahms, Cristine M., MS, RD
Wu, Zaining

Division Administrative Staff

Chin, Eileen, BA (Acc)
Sun , -Amy