Tosa's Med College World's 1st with Full Clinical Genome Sequencing

This article was written by Medical College of Wisconsin staff:

The Medical College of Wisconsin’s (MCW) Human and Molecular Genetics Center recently became the first in the world to offer complete whole genome sequencing (WGS), from patient consent through the return of clinical results, to patients  worldwide.

The CLIA-certified laboratory is accepting physician-ordered samples for either whole genome or whole exome sequencing. Two MCW-developed software programs are used to analyze the data: Carpe Novo, which annotates genomic variants, or mutations; and GapMine, which identifies unsequenced regions of the genome.  Turnaround time from receiving the sample, to return of results to patients, is 90 days.

“The clinical utility, or usefulness, of genomic information is rapidly expanding, whether we are seeking to identify the cause of a rare genetic disease, doing pharmacogenomics testing to guide medication decisions, or doing predictive testing to identify a patient’s risk of developing particular cancers or other devastating illnesses,” said David Bick, M.D., medical director of the clinical sequencing lab, professor of pediatrics (genetics) at MCW and chief geneticist at Children’s Hospital of Wisconsin. “MCW is a leader in this field — we have been offering this service to our patients at Children’s Hospital of Wisconsin and at Froedtert Hospital, and our combined expertise and advanced software and bioinformatics capabilities made this an obvious next step for us.”

Howard Jacob, Ph.D., director of the Human and Molecular Genetics Center, said he expects demand for clinical and research-based genomic sequencing to grow exponentially.

“Today, our whole genome sequencing service can also be used for patients where single gene tests, gene panels or whole exome sequencing failed to help in the diagnosis. Whole genome sequencing is the ultimate reflex test,” Jacob said. “Metaphorically speaking, science has been driving the Model-T, and we really like that car.
"But we also see the Tesla not too far off in the future, and we need to be thinking about what that means.  To me, it means learning more about the genome and using our genomic sequence to eventually be able to identify disease risk and develop preventive medicine plans based on that genetic risk.”

Jacob also holds the Warren P. Knowles Chair in Genetics.at MCW, and is a professor of physiology and pediatrics.

For more information about sequencing services at MCW, visit www.hmgc.mcw.edu.

About the Medical College of Wisconsin
The Medical College of Wisconsin is the state’s only private medical school and health sciences graduate school.  Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and service. More than 1,200 students are enrolled in the Medical College’s medical school and graduate school programs.  A major national research center, it is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2011 – 12, faculty received more than $166 million in external support for research, teaching, training and related purposes, of which more than $152 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH).  Annually, College faculty direct or collaborate on more than 2,000 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 425,000 patients annually.