Robert Freimuth, Ph.D., works at the interface of medical informatics, bioinformatics and genomics to develop computational methods, tools and infrastructure that will speed the translation of advances in genomics to clinical practice.
The long-term goal of Dr. Freimuth's research is to develop resources that make genome-guided therapy a routine part of clinical care.
Dr. Freimuth's research includes designing scalable and semantically interoperable systems that are based on standardized ontologies and terminologies, information models, and structured data elements. These systems are essential for integrating the large data sets and diverse knowledge bases that form the foundations of personalized medicine.
Dr. Freimuth is exploring methods for integrating genomic data into the Mayo Clinic electronic medical record (EMR) and developing clinical decision-support tools that enable physicians to understand and make use of a patient's unique genomic data. The initial focus of his work is in the area of cancer pharmacogenomics, currently one of the most promising applications of genome-guided therapy.
Significance to patient care
To more successfully prevent, diagnose and treat disease, it's imperative to understand the molecular mechanisms of biological systems and the underlying pathophysiology of disease. However, each patient has a unique genetic background and is exposed to differing environmental factors that impact their risk of developing a disease or how they will respond to pharmacological treatment.
Dr. Freimuth's research focuses on improving the ability to use genetic information in clinical practice and achieving the vision of personalized medicine. Ultimately, advances in this area will offer insights into new or improved therapeutic strategies and the identification of new drug targets.
- Chair, Genomics Working Group, American Medical Informatics Association, 2011-present
- Outstanding Achievement Award, Cancer Biomedical Informatics Grid, National Cancer Institute, 2009
- Embodying the Vision Award, Cancer Biomedical Informatics Grid, National Cancer Institute, 2007
- U.S. Patent No. 7026163 — Sulfotransferase Sequence Variants, 2006
- Member — American Medical Informatics Association, Clinical Pharmacogenetics Implementation Consortium, HL7 Clinical Genomics, International Society for Computational Biology, National Cancer Institute Cancer Biomedical Informatics Grid, W3C Health Care and Life Sciences