Let’s Make Diagnoses for Rare Disease Common
More than 30,000,000 people in the US, many of them being children, have a rare, undiagnosed or misdiagnosed disease. Wrestling with these conditions frequently results in a diagnostic odyssey for the patient and their families – multiple specialists, many diagnostic tests, ineffective medications and even exploratory surgeries or harmful medications. The average diagnostic odyssey is seven years, costing tens of thousands of dollars. How whole genome sequencing is used as the driving force behind personalized/precision genomic medicine to provide a diagnosis to more and more of these patients and creates the foundation for a fundamental shift in healthcare from reactive to predictive will be discussed. Case studies demonstrating the value of precision genomic medicine at the patient level and the downstream benefits to the population health will also be provided.
Howard Jacob, Ph.D
Founder | President and Chief Scientific Officer, Envision Genomics
Howard Jacob is both an entrepreneur and academic. Commercialization of ideas and capabilities has provided the translation of genomic research discoveries into clinical tools and resources for the healthcare ecosystem. Envision Genomics is based on it’s Founders’ 6 years of experience in delivering these genomic medicine tools and resources to patients. Four of those six years were spent at the Medical College of Wisconsin, during which time Dr. Jacob and the Envision Genomics Founder team were the first to use genomic sequencing to save a patient’s (Nic Volker) life. Now, with the last two years as an associate company of the HudsonAlpha Institute for Biotechnology, Envision Genomics’ goal is to enable other hospitals and healthcare systems to practice genomic medicine immediately by leveraging the know-how of the Founders and the leading-edge technology infrastructure of HudsonAlpha.
At HudsonAlpha, Howard Jacob is the Executive Vice President for Medical Genomics and Chief Medical Genomics Officer. He also leads the newly created HudsonAlpha Center for Personal Genomics. Prior to taking on his current role, he was the Founding Director of the Human and Molecular Genetics Center (HMGC) and Professor of Physiology and was awarded the Warren P. Knowles Chair of Genetics at the Medical College of Wisconsin. Early in his career, Dr. Jacob was on the faculty at Massachusetts General Hospital and Harvard Medical School. He received his Ph.D. in Pharmacology from the University of Iowa and he completed post-doctoral fellowships in functional genomics and molecular genetics/genomics at Harvard Medical School, Stanford University and the Massachusetts Institute of Technology.
Dr. Jacob’s passion for improving the lives of critically ill patients with rare/undiagnosed disease has been the catalyst for his determination to bring whole genome sequencing into the clinical setting to affect patient care. Under his leadership, the HMGC at the Medical College of Wisconsin grew from two faculty members to 22 and remains one of the top funded genetic programs in the country. He now brings that same passion and expertise to Envision Genomics.
Envision Genomics is designed to help diagnose rare/undiagnosed disease and end the diagnostic odysseys that often accompany these complex cases through deploying genomic medicine services when and how healthcare providers need them. This provides partner organizations the ability to reduce the cost of managing these expensive patient cases as well to practice preventative care and advance value-based healthcare models. Beyond the application of genomic medicine to the rare/undiagnosed disease patient segment, Envision Genomics provides and develops products, tools and resources for our partners in other areas such as pharmacogenomics, wellness, disease risk, concierge/executive medicine and cancer.Precision genomic medicine represents a fundamental shift in how medicine will be practiced: from reactive to predictive in an evolving healthcare ecosystem. How do we get there? Envision Genomics believes it starts with making better diagnosis through the utilization of genomic medicine—specifically, the whole human genomic sequence. Envision provides the clinical end-to-end expertise, infrastructure and resources necessary to implement and deploy cutting edge, market differentiating clinical genomic services.
Envision Genomics is an associate company of the HudsonAlpha Institute of Biotechnology (HAIB). Envision leverages the world-class, CAP-accredited Clinical Sequencing Laboratory (CSL) at HAIB, which possesses the fourth largest sequencing capacity in the United States and utilizes the powerful Illumina HiSeq X sequencing platform to perform clinical whole genome sequencing. In combination with its own proprietary analytics platform and software tools, Envision is able to provide its partners with a fully-interpreted patient report. The Envision Genomics analytics platform also acts as a central repository for genomic and phenotype data, creating the knowledge base required to understand genomic sequence variants and their impact on disease treatment, overall health management, healthcare and the practice medicine.