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Genomics Sciences and Precision Medicine

By Raul Urrutia, Director, Genomics Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin And Warren P. Knowles, Professor of Genomics Sciences and Precision Medicine. Professor of Surgery and Biochemistry, Medical College of Wisconsin

Raul Urrutia, Director, Genomics Sciences and Precision Medicine Center (GSPMC), Medical College of Wisconsin

The Genomic Sciences and Precision Medicine Center (GSPMC) at the Medical College of Wisconsin (MCW), originally called the Human and Molecular Genetics Center (HMGC),was founded in the late 1990s. In its early years, the center followed the lead of the National Genome Project and worked on the application of genomics methodology for research purposes. Subsequently, it was the first in the country to apply genomics to clinical sequencing. This was an important step ahead as it would provide a proof of principle for not only research sequencing, but also core methodologies for the human genome project. Today, through the aid of sequencing, we know that 30 percent of individuals with rare undiagnosed diseases can now be diagnosed. In addition, from that early stage of innovation, we have significantly advanced by keeping pace with the evolving genomics space. Today the field looks quite different and leverages many disciplines in addition to genomic medicine. The HMGC began as a pure genomics center and was relaunched and renamed the Genomics Sciences and Precision Medicine Center in 2017 to reflect the expansion of our more comprehensive assays and services.

"Thus, the practice of precision medicine empowers us and allows us to diagnose, prevent, and cure with precision"

The Evolving Field of Genomics

Early applications of genomics methodology are not enough to satisfy the needs of precision medicine today. Collectively, there are a variety of methodologies that have been derived as a result of completing and extending the knowledge acquired from the human genome project which provide unique information about a person’s genetic code. The disciplines that have been a part of the precision medicine arsenal are known as individualized medicine and are divided into seven broad terms:

• Cancer Genomics
• Non-cancer Clinical Genomics (“Clinomics”)
• Epigenomics
• Microbiome Sciences
• Pharmacogenomics
• Rare and Undiagnosed Diseases
• Bioinformatics and Data Analytics

These evolving disciplines have given rise to a remarkable revolution in precision medicine since they allow us to know whether our genes, as they interact with environmental exposures and lifestyle, will define our state of wellness or disease.

The Importance of Precision Medicine

In the GSPMC, we study patients with genomic differences including Caucasians from Germany, African Americans, and Latin Americans from Spain, etc. These individuals will not only have genetic differences but also distinct cultural practices that will determine their environmental exposure and lifestyle. These differences, as studied by our precision medicine experts, not only determine how an individual looks (e.g: eye color) or behaves but also how he or she will react to a particular diet or medication. For instance, it is remarkable to observe how a life-saving drug for some can turn lethal for others. This is the Pharmacogenomics field. Thus, the practice of precision medicine empowers us and allows us to diagnose, prevent, and cure with precision. MCW has made a significant investment to cover every discipline that falls under the purview of the precision medicine initiative.

My Role in the Field of Genomics and Precision Medicine

In the GSPMC, I serve as the director and the Warren P. Knowles Endowed Chair of Genomics and Precision Medicine. In the field of precision medicine, in addition to discovering genomic variants associated with obesity and diabetes, I have worked on rare and undiagnosed diseases contributing to the characterization of novel disease-causing variants.

When named the director of the GSPMC, I moved from the Mayo Clinic where I was the Professor of Medicine, Biochemistry, and Biophysics, directing the laboratory of Epigenetics and Chromatin Dynamics. I was also a member of the Epigenomics and the Rare Disease Program of the Mayo Center for Individualized Medicine, which pioneered the field in the United States. I was trained at the National Institute of Health and subsequently became faculty at Mayo Clinic in 1992, where I established the first laboratory dedicated to transcriptional regulation and epigenetics in normal cell populations and diseases. I have published highly influential original articles, book chapters, reviews, and a widely cited textbook on pancreatic cancer. In the field of biochemistry of transcription, my laboratory has made a fundamental contribution by identifying members and helping put together the family of Kruppel like factors proteins, which are critical regulators of biology and pathobiology. I am completely dedicated to bringing forward new precision medicine concepts and methodologies to further catalyze innovative and medically relevant research, education, and practice. This mission is very dear to me as it has the most significant potential to improve the overall wellness of our communities.

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