We are entering a new era in health care, as the nascent field of precision genomic medicine takes root.

Genomic medicine represents a major paradigm shift, as its central concept is that information gained from analyzing an individual’s genomic variants routinely will be used, along with the assessment of environmental and clinical factors, to identify and manage presymptomatic health risks, facilitate the diagnosis of existing disorders, refine prognostic predictions, and guide treatment choices throughout life.

Photo of Stephen Meyn
Stephen Meyn is the director of the UW-Madison Center for Human Genomics and Precision Medicine and the Jan and Kathryn Ver Hagen Professor of Translational Research in the Department of Pediatrics.

Genomic medicine has arrived at the University of Wisconsin School of Medicine and Public Health (SMPH) in the form of programs like our Precision Medicine Molecular Tumor Board. However, these are early days, and many challenges lie before us. Thousands of disease genes are yet to be discovered; we don’t know what most sequence variants mean; there’s a shortage of trained scientists and clinicians; and we have yet to determine how best to integrate genomic medicine into health care systems.

Recognizing that addressing these issues requires a broad-based approach, in 2018 the School of Medicine and Public Health launched the UW-Madison Center for Human Genomics and Precision Medicine, giving us the opportunity to play a leading role in this field. The center’s mission includes: growing and nurturing the university’s human genomics and precision medicine community; catalyzing research, clinical and educational activities; and sharing the benefits of precision medicine with all Wisconsinites. This is a tall order, but we are off to a great start.

We have engaged a wide range of UW-Madison faculty in our multidisciplinary research, and we have helped lead successful efforts to recruit five new faculty members in human genomics and precision medicine, with many more to come.

Additionally, we are partnering with the Biotechnology Center to provide core support for clinical genomics research; we are supporting innovative exploratory research projects through our seed grant program; and in fall 2019, we will begin our educational activities, including a seminar series, journal club and annual symposium.

In this fast-paced field, today’s research becomes tomorrow’s clinical practice. Recognizing this blurring of boundaries between the bench and the bedside, we are launching flagship projects that simultaneously address critical knowledge gaps and provide valuable clinical information for patients. Our first two such projects focus on the more than 7,000 rare genetic disorders which, in aggregate, affect greater than one in 12 individuals, including over 500,000 Wisconsinites.

Our Undiagnosed Diseases Program will be fully operational in fall 2019 and offers new hope for patients who have experienced years of diagnostic evaluations without an answer. The program also is an engine for gene discovery that engages researchers across UW-Madison and connects us to global networks of scientists and clinicians.

Genetic disorders and birth defects are the leading cause of infant death, yet most genetic test results come back too late to affect treatment in the neonatal intensive care unit (NICU). Our Program for the Rapid Diagnosis of Critically Ill Children uses genome-wide sequencing to provide timely, actionable diagnoses for these patients.

A partnership with neonatology and pediatric critical care at American Family Children’s Hospital and UnityPoint Health-Meriter Hospital, this program is designed to expand into a network that will link NICUs across Wisconsin.

Another flagship project, the UW-Madison Predictive Genomics Program, will enroll healthy, information-seeking adults who want to manage their risks for common diseases. One of the first of its kind to offer risk assessments that combine clinical assessment and family history with the results of screening for rare genetic disorders and common risk variants, the program will generate both immediate clinical results and data for multiple research studies. An innovative patient portal, periodic data reassessments and the incremental addition of disease modules will keep participants engaged.

Implementation of precision genomic medicine requires a team of stakeholders. To this end, we have been working with UW Health, Quartz Health Benefits, the State Laboratory of Hygiene and clinicians from multiple specialties to enhance clinical programs and develop innovative initiatives.

The Canadian author William Gibson once said, “The future is already here, it’s just not very evenly distributed.” And so it is for precision medicine. Fortunately, the School of Medicine and Public Health is committed to help lead the way by advancing knowledge of human genomics and translating insights into improved health and well-being for Wisconsin and the world.

By M. Stephen Meyn, MD, PhD
This article appears in Quarterly magazine.