Karen Wain
Genetic Counselor
Assistant Professor

LOCATION(S)
Autism & Developmental Medicine Institute
120 Hamm Drive
Lewisburg, PA 17837 
Phone: 570-522-9437
Fax: 570-522-9431 
kwain@geisinger.edu

Research Interests 

I am interested in contributing to work that ensures that genetics and genomics are implemented in health care such that all people may benefit and receive high quality services. Thus I am involved in ClinGen and collaborative efforts to obtain meaningful datasets to improve clinical genetic testing and our understanding of genetic diseases. I am interested in improving the understanding of genetic and other etiologies related to neurodevelopmental disorders and exploring the impact of genetic diagnosis on patient management and experience. I am also contributing to the development of bioinformatic and variant assessment pipelines to enhance the incorporation of genomic data into clinical and research endeavors. 

Recent Publications

  • Goodenberger M.L., Thomas B.C., Wain K.E.. (2015, Feb). The Utilization of Counseling Skills by the Laboratory Genetic Counselor. J Genet Couns , 24(1), 6-17.
  • Wain K.E., Ellingson M.S., McDonald J., Gammon A., Roberts M., Pichurin P., Winship I., Riegert-Johnson D., Weitzel J.N., Lindor N.M. (2014, Aug). Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review. Genet Med , 16(8), 588-593.
  • Riggs E.R., Wain K.E., Riethmaier D., Packard B.S., Faucett A.W., Hoppman N., Thorland E.C., Patel V.C., Miller D.T. . (2014, Feb). Chromosomal Microarray Impacts Clinical Management. Clin Genet , 85(2), 147-153.
  • Zetzsche L.H., Kotzer K.E., Wain K.E.. (2014, June). Looking Back and Moving Forward: An Historical Perspective from Laboratory Genetic Counselors. J Genet Couns , 23(3), 363-370.
  • Riggs E.R., Wain K.E., Riethmaier D., Savage M., Smith-Packard B., Kaminsky E.B., Rehm H.L., Martin C.L., Ledbetter D.H., Faucett W.A.. (2013, June). Towards a universal clinical genomics database: the 2012 international standards for cytogenomic arrays consortium meeting. Hum Mutat , 34(6), 915-909.

Education

MS, University of Michigan, 2005-2007

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