In 2015, Biochemical Geneticists from UPMC at Children’s Hospital of Pittsburgh (CHP), Dr. Gerard Vockley and Dr. Georgianne Arnold, and Tufts Medical Center in Boston, Dr. Mark Korson, in cooperation with the CHP Foundation, founded the Genetic Metabolic Center for Education (GMCE), and developed educational courses, accredited by Nemour’s, known as Met101. The purpose of these courses was to provide information to physicians to help them understand genetic metabolic disorders. To date, over one-thousand physicians have earned CME credits through the Met101 program.
Born from GMCE, UnX was created specifically and solely to create for patients and physicians online software solutions for assisting in the diagnosis of genetic conditions. UnX is now working in collaboration with experienced genetic specialists from the Children’s Hospital of Pittsburgh, British Columbia Children’s Hospital and Children’s Hospital of Colorado. Their experience and knowledge as the designers of Met101 and Treatable_id, an interactive diagnostic tool for clinicians, has been utilized to create the first phase of the screening tools focused on determining if a patient is a candidate for genetic testing.
Dr. Sylvia Stockler, creator of treatable_id from British Columbia Children’s Hospital, and Dr. Patrick Long, from Children’s Hospital of Colorado, worked together to develop the online screening tools for both patients and physicians. The tools were developed using ethics-board approved research with real patient data to validate screening results with a focus on precision and accuracy. After developing the tools, they shared their work with geneticists at Children’s Hospital of Colorado and with Dr. Gerard Vockley from Children’s Hospital of Pittsburgh, for review and feedback. After feedback was received and implemented and the tools improved, the tools became available to the public. However, that is not the end of the story for the UnX screening tools.
As part of our cycle of continuous improvement, pilot programs for physician feedback have been initiated in Colorado, British Columbia, and Pittsburgh, Pennsylvania to monitor the utility and functionality of the tools and to gain additional insights from healthcare providers.