Personalized Medicine Program

Establishing new sequencing and data analysis resources for research and health care delivery related to personalized medicine

Full Project Name:Personalized Medicine Program (Phase I)Principal Investigator:Allen W. Cowley, PhD, PhysiologyAward Amount:2,539,227
Award Date
July2010
Project Duration:72 months

Project Description Narrative:


A fundamental principle underlying personalized medicine is that genomic sequence, in combination with gene annotation and the growing medical literature, can increase our understanding of how genes contribute to produce disease, can be used to improve medical diagnosis of disease, and can improve the selection of therapeutic interventions having the greatest likelihood of reducing the disease burden or perhaps delaying the onset of disease. With this genomic data on hand, it may be come increasingly possible to predict a patient's risk for disease, enabling health care to move from reactive medicine to prospective medicine.

However, in order for personalized medicine to become a reality, many steps are needed. Through this award, the Medical College of Wisconsin Genomic Sciences and Precision Medicine Center will build on its role as a leader in the development of personalized medicine by developing the infrastructure to improve laboratory flow and data analysis pipelines, as well as rich data resources.

Outcomes & Lessons Learned:


• Established the foundation for personalized medicine at the Medical College of Wisconsin, advancing technologies and processes to analyze and identify genomic variants

• Completed validation of Whole Genome Sequencing, Whole Exome Sequencing, and a targeted mulit-gene panel capture sequencing test, at the time making the Medical College of Wisconsin home to the only laboratory in the world that has the capability to offer an end-to-end fully-interpreted clinical diagnostic WGS test

• Obtained sequencing technologies that improved timeline from sample to analysis and provided capacity to run tests for clinical use

• Developed sequencing platforms and analysis pipelines that were used for more than 1,500 individual tests

• Built on success of project to secure new extramural grant funding, including awards from the NIH National Human Genome Research Institute and the W.M. Keck Foundation

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