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Marc Williams
Professor and Director Emeritus, Genomic Medicine Institute

Genomic Medicine Institute
100 North Academy Avenue
Danville, PA 17822
Phone: 570-214-1005

Marc S. Williams, MD

Professor of Genomics


My primary interest has been to study the impact of implementing genetics, genomics and family history in routine clinical care. Successful implementation requires the application of many disparate elements including technology assessment, modeling and decision analysis, the science of behavioral change, quality improvement, knowledge management, informatics, health care economics and patient-centered outcomes all of which are components of the emerging discipline of implementation science. I am also very interested in defining the value proposition of new genomic technologies with value being simplistically represented as outcomes/cost. My research to date has examined the impact of family history in patient care; the role of informatics to provide genomic information at the point-of-care, "just-in-time" within the electronic health record; use of whole genome sequencing for undiagnosed intellectual disability in children; measuring the impact of next generation sequencing on an unselected patient population; and application of the tools of implementation science to facilitate the use of evidence-based genomic medicine best practices in clinical care.

Recent Publications

  • Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O’Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobriera N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KAB. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med 2016 18:1258-1268.
  • Williams JL, Rahm AK, Stuckey H, Green J, Feldman L, Zallen DT, Bonhag M, Segal MM, Fan AL, Williams MS. Enhancing genomic laboratory reports: A qualitative analysis of provider review. Am J Med Genet A. 2016 170A:1134-41.
  • Schwartz MLB, Williams MS, Murray MF. Adding Protective Genetic Variants To Clinical Reporting of Genomic Screening. JAMA Published online March 13, 2017. doi:10.1001/jama.2017.1533
  • Lu CY, Williams MS, Ginsburg GS, Toh S, Brown JS, Khoury MJ. A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system. Genet Med. 2017 Aug 10. doi:10.1038/gim.2017.122. [Epub ahead of print]
  • Fragoulakis V, Mitropoulou C, Williams MS, Patrinos G. Economic Evaluation in Genomic Medicine. 2015 Elsevier Academic Press. 
  • Kullo IJ, Haddad R, Prows CA, Holm I, Sanderson SC, Garrison NA, Sharp RR, Smith ME, Kuivaniemi H, Bottinger EP, Connolly J, Keating BJ, McCarty CA, Williams MS, Jarvik GP. (2014, Mar). Return of Genomic Results in the Genomic Medicine Projects of the eMERGE Network. Front Genet , 5, 50. External Link
  • Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard T, Jarvik GP, O’Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. (2014, Mar). Characterizing Genetic Variants for Clinical Action. Am J Med Genet C Semin Med Genet , 166, 93-104.
  • Wade JE, Ledbetter DH, Williams MS. (2014, Mar). Implementation of Genomic Medicine in a Health Care Delivery System: A Value Proposition? . Am J Med Genet C Semin Med Genet , 166C(1), 112-116.
  • Heale BSE, Overby CL, Del Fiol G, Rubinstein WS, Maglott DR, Nelson TH, Milosavljevic A, Martin CL, Goehringer, SR, Freimuth RR, Williams MS. Integrating Genomic Resources with Electronic Health Records using the HL7 Infobutton Standard. Appl Clin Inform 3:817-831, 2016.
  • Overby C, Heale B, Aronson S, Cherry JM, Dwight S, Milosavljevic A, Nelson T, Niehaus A, Weaver MA, Ramos ER, Williams MS. Providing Access to Genomic Variant Knowledge in a Healthcare Setting: A Vision for the ClinGen Electronic Health Records Workgroup. Clin Pharmacol Ther. 2016 99:157-60.
  • Williams MS, Ritchie MD, Payne PRO. Interdisciplinary training to build an informatics workforce for Precision Medicine. Applied and Translational Genomics 6:28-30, 2015.
  • Stuckey H, Williams JL, Fan AL, Rahm AK, Green J, Feldman L, Bonhag M, Zallen DT, Segal MM, Williams MS. Enhancing Genomic Laboratory Reports from the Patients’ View: A Qualitative Analysis. Am J Med Genet A. 2015 167:2238-43.


MD, University of Wisconsin-Madison, 1977-1981