Daniel R. Masys, MD - UW faculty home page

Daniel Masys, MD

Affiliate Professor
Biomedical and Health Informatics
University of Washington
School of Medicine

Contact: drm

Dr. Daniel R. Masys is an Affiliate (volunteer) Professor of Biomedical and Health Informatics, joining the Department of Biomedical Informatics and Medical Education after retiring as Professor and Chair of the Department of Biomedical Informatics and Professor of Medicine at the Vanderbilt University School of Medicine in 2011. An honors graduate of Princeton University and the Ohio State University College of Medicine, he completed postgraduate training in Internal Medicine, Hematology and Medical Oncology at the University of California, San Diego, and the Naval Regional Medical Center, San Diego. He served as Chief of the International Cancer Research Data Bank of the National Cancer Institute, National Institutes of Health, and was also Director of the Lister Hill National Center for Biomedical Communications, which is a computer research and development division of the National Library of Medicine. He also served as Director of Biomedical Informatics at the University of California, San Diego School of Medicine, Director of the UCSD Human Research Protections Program, and Professor of Medicine.

Dr. Masys is an elected member of the National Academy of Medicine (formerly the Institute of Medicine) of the National Academy of Sciences. He is a Diplomate of the American Board of Internal Medicine in Medicine, Hematology, and Medical Oncology. He is a Fellow of the American College of Physicians, and Fellow and Past President of the American College of Medical Informatics.

Dr. Masys' professional interests include development of informatics infrastructure for conducting clinical and translational research, genome-phenome correlation using phenotype data derived from electronic medical records data, and approaches to incorporating genomic data effectively into clinical systems.

Recent professional service

Member, Board of Regents, National Library of Medicine 2015-2019
Member, National Academies of Science, Engineering and Medicine Committee to Review NASA's Evidence Reports on Human Health Risks 2007-2019

Selected Presentations

"Facilitating Development of a Shared Evidence Base for Healthcare Systems." Integrating Genomic Sequencing into Clinical Care: CSER and Beyond meeting. (NIH Genome TV YouTube channel.) National Human Genome Research Institute (NHGRI), Bethesda, MD, September 28, 2015.
"Opportunities and challenges related to the use of electronic health records data for research"
(NIH Precision Medicine Initiative YouTube channel). NIH Workshop on Building a Precision Medicine Research Cohort. Bethesda, MD, February 11, 2015.
"Tales of Tenerife and Three Mile Island: Lessons from Other Industries for Genomic Clinical Decision Support".

(GenomeTV) Keynote talk at the NIH Genomic Medicine 7 conference on genomic clinical decision support, Bethesda, MD, October 2014.

Informatics Year in Review presentations from 2006 to 2013 at the annual American Medical Informatics Association Symposium.

Selected Recent Publications. (A complete MEDLINE bibliography is available here):

Masys DR, Benson DA. Don Lindberg and the Creation of the National Center for Biotechnology Information. Stud Health Technol Inform. 2022 Feb 1;288:113-121. doi: 10.3233/SHTI210986. PMID: 35102833.

Ackerman MJ, Howe SE, Masys DR. Don Lindberg, High Performance Computing and Communications, and Telemedicine. Stud Health Technol Inform. 2022 Feb 1;288:122-133. doi: 10.3233/SHTI210987. PMID: 35102834.

Monroe-Wise A, Kinuthia J, Fuller S, Dunbar M, Masuda D, Opiyo E, Muchai B, Chepken C, Omwenga E, Oboko R, Osoti A, Masys D Chung MH. Improving Information and Communications Technology (ICT) Knowledge and Skills to Develop Health Research Capacity in Kenya. Online Journal of Public Health Informatics. 2019 Dec 31;11(3):e22. doi: 10.5210/ojphi.v11i3.10323. eCollection 2019.

Masys DR. Electronic Health Records and Genomic Medicine. Chapter 9 in Ginsburg GS, Willard HF (eds.) Genomic and Precision Medicine, Third Edition: Foundations, Translation, and Implementation. Elsevier Academic Press. 2017. ISBN-13: 978-0128006818.

Riley WT, Nilsen WJ, Manolio TA, Masys DR, Lauer M. News from the NIH: potential contributions of the behavioral and social sciences to the precision medicine initiative. Transl Behav Med. 2015 Sep;5(3):243-6.

Malinowski JR, Denny JC, Bielinski SJ, Basford MA, Bradford Y, Peissig PL, Carrell D, Crosslin DR, Pathak J, Rasmussen L, Pacheco J, Kho A, Newton KM, Li R, Kullo IJ, Chute CG, Chisholm RL, Jarvik GP, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M, Ritchie MD, Crawford DC. Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network. PLoS One. 2014 Dec 1;9(12):e111301.

Denny JC, Bastarache L, Ritchie MD, Carroll RJ, Zink R, Mosley JD, Field JR, Pulley JM, Ramirez AH, Bowton E, Basford MA, Carrell DS, Peissig PL, Kho AN, Pacheco JA, Rasmussen LV, Crosslin DR, Crane PK, Pathak J, Bielinski SJ, Pendergrass SA, Xu H, Hindorff LA, Li R, Manolio TA, Chute CG, Chisholm RL, Larson EB, Jarvik GP, Brilliant MH, McCarty CA, Kullo IJ, Haines JL, Crawford DC, Masys DR, Roden DM. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013 Nov 24;31(12):1102-1111.

Cortes CP, Wehbe FH, McGowan CC, Shepherd BE, Duda SN, Jenkins CA, Gonzalez E, Carriquiry G, Schechter M, Padgett D, Cesar C, Madero JS, Pape JW, Masys DR, Sterling TR; Caribbean, Central American, South American Network for HIV Research of the International Epidemiologic Databases to Evaluate AIDS. Duration of anti-tuberculosis therapy and timing of antiretroviral therapy initiation: association with mortality in HIV-related tuberculosis. PLoS One. 2013 Sep 16;8(9):e74057.

Shameer K, Denny JC, Ding K, Jouni H, Crosslin DR, de Andrade M, Chute CG, Peissig P, Pacheco JA, Li R, Bastarache L, Kho AN, Ritchie MD, Masys DR, Chisholm RL, Larson EB, McCarty CA, Roden DM, Jarvik GP, Kullo IJ. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet. 2013 Sep 12.

Ding K, de Andrade M, Manolio TA, Crawford DC, Rasmussen-Torvik LJ, Ritchie MD, Denny JC, Masys DR, Jouni H, Pachecho JA, Kho AN, Roden DM, Chisholm R, Kullo IJ. Genetic Variants That Confer Resistance to Malaria Are Associated with Red Blood Cell Traits in African-Americans: An Electronic Medical Record-based Genome-Wide Association Study. G3 (Bethesda). 2013 Jul 8;3(7):1061-8.

Oetjens MT, Denny JC, Ritchie MD, Gillani NB, Richardson DM, Restrepo NA, Pulley JM, Dilks HH, Basford MA, Bowton E, Masys DR, Wilke RA, Roden DM, Crawford DC. Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records. Pharmacogenomics. 2013 May;14(7):735-44.

Ritchie MD, Denny JC, Zuvich RL, Crawford DC, Schildcrout JS, Bastarache L, Ramirez AH, Mosely JD, Pulley JM, Basford MA, Bradford Y, Rasmussen LV, Pathak J, Chute CG, Kullo IJ, McCarty CA, Chisholm RL, Kho AN, Carlson CS, Larson EB, Jarvik GP, Sotoodehnia N, Manolio TA, Li R, Masys DR, Haines JL, Roden DM. Genome- and Phenome-Wide Analysis of Cardiac Conduction Identifies Markers of Arrhythmia Risk. Circulation. 2013 Mar 5.

Masys DR, Harris PA, Fearn PA, Kohane IS, Designing a public square for research computing. Sci. Transl. Med. 4, 149fs32 (August 2012).

Schildcrout JS, Denny JC, Bowton E, Gregg W, Pulley JM, Basford MA, Cowan JD, Xu H, Ramirez AH, Crawford DC, Ritchie MD, Peterson JF, Masys DR, Wilke RA, Roden DM. Optimizing drug outcomes through pharmacogenetics: a case for preemptive genotyping. Clin Pharmacol Ther. 2012 Aug; 92(2):235-42.

Pulley JM, Denny JC, Peterson JF, Bernard GR, Vnencak-Jones CL, Ramirez AH, Delaney JT, Bowton E, Brothers K, Johnson K, Crawford DC, Schildcrout J, Masys DR, Dilks HH, Wilke RA, Clayton EW, Shultz E, Laposata M, McPherson J, Jirjis JN, Roden DM. Operational Implementation of Prospective Genotyping for Personalized Medicine: The Design of the Vanderbilt PREDICT Project. Clin Pharmacol Ther. 2012 May 16

Ding K, Shameer K, Jouni H, Masys DR, Jarvik GP, Kho AN, Ritchie MD, McCarty CA, Chute CG, Manolio TA, Kullo IJ. Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits. Mayo Clin Proc. 2012 May;87(5):461-74.

Ramirez AH, Shi Y, Schildcrout JS, Delaney JT, Xu H, Oetjens MT, Zuvich RL, Basford MA, Bowton E, Jiang M, Speltz P, Zink R, Cowan J, Pulley JM, Ritchie MD, Masys DR, Roden DM, Crawford DC, Denny JC. Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record. Pharmacogenomics. 2012 Feb 13.

Masys DR, Jarvik GP, Abernethy NF, Anderson NR, Papanicolaou GJ, Paltoo DN, Hoffman MA, Kohane IS, Levy HP. Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform. 2011 Dec 27.

Delaney JT, Ramirez AH, Bowton E, Pulley JM, Basford MA, Schildcrout JS, Shi Y, Zink R, Oetjens M, Xu H, Cleator JH, Jahangir E, Ritchie MD, Masys DR, Roden DM, Crawford DC, Denny JC. Predicting Clopidogrel Response Using DNA Samples Linked to an Electronic Health Record. Clin Pharmacol Ther. 2011 Dec 21. doi: 10.1038/clpt.2011.221.

Denny JC, Crawford DC, Ritchie MD, Bielinski SJ, Basford MA, Bradford Y, Chai HS, Bastarache L, Zuvich R, Peissig P, Carrell D, Ramirez AH, Pathak J, Wilke RA, Rasmussen L, Wang X, Pacheco JA, Kho AN, Hayes MG, Weston N, Matsumoto M, Kopp PA, Newton KM, Jarvik GP, Li R, Manolio TA, Kullo IJ, Chute CG, Chisholm RL, Larson EB, McCarty CA, Masys DR, Roden DM, de Andrade M. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet. 2011 Oct 7;89(4):529-42

Xu H, Jiang M, Oetjens M, Bowton EA, Ramirez AH, Jeff JM, Basford MA, Pulley JM, Cowan JD, Wang X, Ritchie MD, Masys DR, Roden DM, Crawford DC, Denny JC. Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin. J Am Med Inform Assoc. 2011 Jul-Aug;18(4):387-91.

Pathak J, Wang J, Kashyap S, Basford M, Li R, Masys DR, Chute CG. Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience. J Am Med Inform Assoc. 2011 Jul-Aug;18(4):376-86. Epub 2011 May 19.

McCarty CA, Chisholm RL, Chute CG, Kullo IJ, Jarvik GP, Larson EB, Li R, Masys DR, Ritchie MD, Roden DM, Struewing JP, Wolf WA; eMERGE Team. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics. 2011 Jan 26;4:13.

Malin B, Benitez K, Masys D. Never too old for anonymity: a statistical standard for demographic data sharing via the HIPAA Privacy Rule. J Am Med Inform Assoc. 2011 Jan-Feb;18(1):3-10.