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College of
Health Sciences

Marc Williams

Professor and Director Emeritus, Department of Genomic Health

Department of Genomic Health
100 North Academy Avenue
Danville, PA 17822

Phone: 570-214-1005


Marc S Williams, MD

Research Interests 

Dr. Williams' 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. My newest project, Real-time Genetic Diagnosis addresses a key issue in healthcare, that is identifying and diagnosing patients with a rare genetic disease. In this project we are imagining a future state where everyone has genetic sequence available for analysis. To realize this vision, we have identified three areas that we would like to address. Identification of patients with a candidate condition in real time from electronic health record data entered by the provider and patient, followed by a concurrent bioinformatic analysis of the existing genomic sequence data. Finally, we want to address returning the genetic test result to the provider and patient so that both parties have the appropriate information to guide condition-specific care. For this, we are using user-centered design principles such that the resulting approach enhances clinician productivity, rather than causing burden. 

Recent Publications


  • Williams MS. Population Genetic Screening in Health Systems. Annu Rev Genomics Hum Genet Vol. 23:- first posted online on February 17, 2022.\
  • Jones LK, Brownson RC, Williams MS. Applying implementation science to improve care for familial hypercholesterolemia. Curr Opin Endocrinol Diabetes Obes. 2022 Apr 1;29(2):141-151.
  • Guzauskas GF, Jiang S, Garbett S, Zhou Z, Spencer SJ, Snyder SR, Graves JA, Williams MS, Hao J, Peterson JF, Veenstra DL. Cost-effectiveness of Population-wide Genomic Screening for Lynch Syndrome in the United States. Genet Med 2022 Feb 25:S1098-3600(22)00033-8. doi: 10.1016/j.gim.2022.01.017. Epub ahead of print. 
  • Gudgeon JM, Varner MW, Hao J, Williams MS. A Model-based Reexamination of the Effectiveness of Tumor/Immunohistochemistry and Direct-to-Sequencing Protocols for Lynch Syndrome Case-finding in Endometrial Cancer. JCO Oncol Pract. 2021 17:e1785-e1793.
  • Tekendo-Ngongang C, Williams KJ, Williams MS. Cross-cultural Representations of Conjoined Twins. Am J Med Genet C 2021 187:240-253.
  • Walton NA, Johnson DK, Person TN, Reynolds JC, Williams MS. Pilot Implementation of Clinical Genomic Data into the Native Electronic Health Record:Challenges of Scalability. ACI Open 2020;4:e162–e166.
  • Buchanan AH, Lester Kirchner H, Schwartz MLB, Kelly MA, Schmidlen T, Jones LK, Hallquist MLG, Rocha H, Betts M, Schwiter R, Butry L, Lazzeri AL, Frisbie LR, Rahm AK, Hao J, Willard HF, Martin CL, Ledbetter DH, Williams MS, Sturm AC. Clinical outcomes of a genomic screening program for actionable genetic conditions. Genet Med. 2020 Nov;22(11):1874-1882. 
  • Williams MS, Buchanan AH, Davis FD, Faucett WA, Hallquist MLG, Leader JB, Martin CL, McCormick CZ, Meyer MN, Murray MF, Rahm AK, Schwartz MLB, Sturm AC, Wagner JK, Williams JL, Willard HF, Ledbetter DH. Patient-Centered Precision Health In A Learning Health Care System: Geisinger’s Genomic Medicine Experience. Health Aff (Millwood) 2018 37:757-764.
  • Peterson JF, Roden DM, Orlando LA, Ramirez A, Mensah GA, Williams MS. Building Evidence and Measuring Clinical Outcomes for Genomic Medicine. Lancet 2019 394:604-610.


MD, University of Wisconsin-Madison, 1977-1981

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