Medical Genetics Quality Improvement Project
Research Associate Professor
Institute on Disability, UNH
Children/youth with special healthcare needs, Infant (< one year), Toddler (>1 yr to 3 yrs), Preschoolers (>3yrs to 6 yrs), Elementary age children (>6 to 10 years), 6. Tweens (>10 year to 13), Teenager (>13 to 18 years)
Fletcher Allen, University of Vermont Maine Medical Center Dartmouth-Hitchcock Medical Center Bay State Health Children's Hospital Boston
Addresses priorities 10 (Other-improve quality of care for patients and families with conditions identifiable by NBS), and goals 2a and 3c. The aim of the Medical Genetics QI project has been to improve the diagnosis, care, and treatment of those patients referred for developmental delays or intellectual disability (DDID). This set of patients was chosen because of the frequency of occurrence (~30 percent of all patients in some sites), the complicated diagnostic process (~40 percent of all referred do not have a etiological diagnosis established), the changing testing technology (chromosome microarray, whole exome sequencing, next generation whole genome sequencing), and, newer information for systematic reviews regarding "treatable" disorders presenting with DDID. The Medical Genetics QI work to date has been to establish: a QI Registry with a vendor (GVT) that allows data entry via web portal; data sharing agreements; IRB waivers; HIPAA Business Association Agreements (BAAs) to share protected health information; and data security agreements. Currently there two centers having IRB waivers and HIPPA BAAs in place (ME, NH), with a third (VT) pending. With the registry in place and the BAAs in place, the NEGC is now ready to add other centers. NEGC also proposes to utilize "web 2.0" tools in all QI activities, including those described above. We propose to develop orientation and background materials in short, TED-like presentations for asynchronous viewing using MoodleRooms and Tegrity. We propose using Box.net or BaseCamp.com for "cloud" shared enterprise activity to facilitate project processes. Further, we will continue use of Webex and gotomeeting.com for some meetings, thus saving time and travel expenses. The objective and activities to be conducted are: Objective: Expand and improve the Medical Genetics QI process to additional centers a. Invite seven NE sites to participate in the Medical Genetics QI project b. Improve the metabolic evaluation of those with DDID based on recent systematic review c. Develop 20 short QI orientation videos and place on NEGC YouTube channel d. Set up cloud workspace using box.net (Moeschler is current user) e. Test the iPad app decision support tool developed by Van Karnebeek et al for the Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC) at BC Children's Hospital in Vancouver (Moeschler is a TIDE-BC advisor). See www.treatable-id.org. The NEGC evaluation will consist of documenting and reporting: # of centers with IRB waivers and BAAs on file; user satisfaction with new technology tools; # of reports developed for decision-support app; utility and satisfaction of users with app; # training videos available on NEGC website; and # of users of these videos.