Genomic Medicine Institute
100 North Academy Avenue
Danville, PA 17822
MD, University of Wisconsin-Madison, 1977-1981
Genetics, Genomics, Health Information Technology, Health Services, Comparative Effectiveness
Application of genetics/genomics in clinical care, Use of information technology for point-of-care education nd clinical decision support, dissemination and Implementation Science, Quality Improvement, Economics of health care delivery
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 on provider experience; the role of informatics to provide point-of-care, "just-in-time" education resources and passive decision support to clinicians regarding genetic topics; impact of tumor-based screening for Lynch syndrome (including extensive modeling to optimize the efficiency of the program); use of query tools to obtain information on genetic conditions from electronic data warehouses; and application of the tools of quality improvement to facilitate implementation of evidence-based best practices in genetics and genomics. I am now beginning to explore how we can get information from patients about their preferences including an assessment of the patient's location on the State of Change continuum and use those preferences to reconcile priorities regarding preventive and therapeutic interventions with the patient's provider to see if that will improve satisfaction for both and increase compliance with recommendations leading to measurable improvement in outcomes and improved value.
Williams JL, Faucett WA, Smith-Packard B, Wagner M, Williams MS.
An assessment of time involved in pre-test case review and counseling for a Whole Genome Sequencing Clinical Research Program.
J Genet Couns
, 23(4), 516-521.
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.
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.
Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant M, Carrell DS, Connolly J, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, Leppig KA, Li R, Lin S, Manzi S, Mejia AR, Pacheco JA, Pan V, Pathak J, Perry CL, Peterson JF, Prows CA, Ralston J, Rasmussen LV, Ritchie MD, Sadhasivam S, Scott SA, Smith M, Vega A, Vinks AA, Volpi S, Wolf WA, Bottinger E, Chisholm RL, Chute CG, Haines JL, Harley JB, Keating B, Holm IA, Kullo IJ, Jarvik GP, Larson EB, Manolio T, McCarty CA, Nickerson DA, Scherer SE, Williams MS, Roden DM, Denny JC. (2014, Oct). Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems. Pharmacol Ther , 96(4), 482-9.