The Medical College of Wisconsin (MCW), in conjunction with Children’s Hospital of Wisconsin and Froedtert Hospital, was the first in the nation to launch a genomic medicine clinic, and to offer whole genome sequencing clinically to patients on “diagnostic odysseys.”
Three years later, the clinical genomics team, still world leaders in the field, were invited to write a commentary on “lessons learned” in converting a research sequencing lab into a fully functioning clinical program—to both act as a guide for programs launching clinical programs, and to serve as a conversation-starter for others considering the implementation of clinical genomics. That commentary, authored by Howard Jacob, PhD, director of the Human and Molecular Genetics Center at MCW, and by the clinical genomics team (see authors below) has been published in Science Translational Medicine www.eurekalert.org/jrnls/scitransmed/.
Clinical genomics faces barriers to deployment on several fronts: practical, technological, economical, and ethical. In order to successfully implement genomics into a clinic, the clinicians themselves must see the value in whole genome sequencing (WGS) to identify causative agents of disease. The value itself will increase exponentially, the authors believe, as genomics is adopted and more genomes are sequenced. At present, there are many variants of unknown significance; as research resolves these unknown variants, clinicians will more easily “hone in” on causes of disease.
As the technology continues to improve, the cost of sequencing is going down. One WGS test may be less expensive than ordering multiple gene tests. Furthermore, the argument for personalized medicine suggests that patients’ personal data, including genomic information, lead to better preventive care, which ultimately should lead to reduced health care costs.
The ethical questions surrounding WGS continue to be debated. At the center of one argument: the return of secondary findings, or those results unrelated to the patient’s primary disease. In the commentary, the authors explain their process and the reasoning behind the decision to allow the patient, or the patient’s parents, to decide whether they want secondary results returned.
“We believe that WGS will improve the practice of medicine. What we can extract from the human genomic sequence, and how it impacts our ability to practice medicine, will continue to develop,” said Dr. Jacob. “There is clearly medical value inherent in the genome, and the personal utility to patients will continue to evolve as we overcome some of the challenges outlined in this commentary.”
Co-authors of the commentary are: Kelly Abrams; Barbara Walczyk-Joers; and Regan A. Veith, M.S., Children’s Hospital of Wisconsin; David P. Bick, MD; Kent Broddie; David P. Dimmock, MD; Michael Farrell, MD; Jennifer Geurts, MS; Daniel Helbling, MS; Robert Kliegman, MD; George Kowalski; Jozef Lazar, MD, PhD; David A. Margolis, MD; Paula North, MD; PhD; Jill Northup, MBA; Altheia Roquemore-Goins; Gunter Scharer, MD; Mary Shimoyama, PhD; Kimberly Strong, PhD; Bradley Taylor; Shirng-Wern Tsaih, PhD; Michael Tschannen; Jaime Wendt-Andrae; Brandon Wilk; and Elizabeth A. Worthey, PhD; the Medical College of Wisconsin.
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