Members of the Newborn Screening Workgroup gather in Phoenix, AZ on February 25, 2011 for their mid-year meeting.

MSGRCC held two in-person meetings during the past year, during which all workgroups were able to meet.  The mid-year meetings were made possible through funding from the National Newborn Screening and Genetics Resources Center (NNSGRC).   Our workgroups - Consumer Advocacy, Newborn Screening, Telemedicine, and Emergency Preparedness - continue to expand, and to serve MSGRCC through their expert members and collective knowledge. 

The Consumer Advocacy Workgroup has been busy with identifying dissemination opportunities for The Life Rope: Engagement of Diverse Populations for Recruitment and Representation in Genetics, a white paper developed by the workgroup in 2009.  Additionally, the workgroup members continue to participate on other MSGRCC workgroups and are outlining a strategy to have a more formal role in advising MSGRCC projects.  During their February, 2011 meeting, the workgroup described a significant need for parents in the region to have easy access to information about financial resources available to families of children with special health care needs.   MSGRCC is preparing the Consumer Advocacy Workgroup webpage to include these and other resources relevant to families.  The workgroup members will oversee webpage content.

The Newborn Screening Workgroup remains our largest workgroup, with over 30 members attending each of the last two in-person meetings.  The workgroup meetings offer participants a venue in which they can review current state and national events and discuss their potential impact in the Mountain States Region.  For example, in February, 2011, the workgroup reviewed the recent recommendation from the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) to add critical cyanotic congenital heart disease (CCCHD) to the Recommended Uniform Newborn Screening Panel.  The primary questions raised by workgroup members focused on how point-of-care screening would be implemented in each state, and what role would be required of state health departments.  The group also discussed how states are implementing the NICU screening protocols issued by the Clinical and Laboratory Standards Institute (CLSI).  In follow-up, MSGRCC is preparing a summary of what each state is doing related to NICU screening and will distribute that information, along with any available implementation data and lessons learned, to the workgroup.

The Emergency Preparedness Workgroup consists of many members also on the Newborn Screening Workgroup, which provides an opportunity for excellent cross-collaboration within the MSGRCC.  Implementation of emergency preparedness plans and Continuity of Operations Plans (COOP) within the region is variable, and this workgroup has initiated various planning activities in several states.  In 2009, this workgroup developed a survey to assess laboratory capacity within the region.  The survey gathered data on number of specimens tested daily, limitations due to staff and reagents on hand, and state perspectives on the threats for which they are most at risk.  Data from this survey has been compiled and the workgroup is preparing an abstract for possible presentations at national meetings.  The Emergency Preparedness workgroup also led the development of a tabletop exercise that was held on April 29, 2011.  Under the direction of Bill Perry, EP consultant to the National Coordinating Center, our region implemented an in-person and virtual exercise with six of the eight states participating.  The summary report of the exercise is still being drafted but will be shared with our partners once it is finalized.  MSGRCC would like to thank all the members of the planning committee, including Donna Williams and Lynette Borgfeld, for their time and expertise; each of the state health departments who generously volunteered their space, technology, and IT staff to help make a virtual exercise possible; and to the Association for Public Health Laboratories (APHL) for their support of participant travel.

The Telemedicine Workgroup is one of our newest and most rapidly expanding workgroups.  After spending its first year identifying existing infrastructure for telemedicine available in the region, the workgroup now oversees two small projects, has developed two brochures describing the potential benefits of telemedicine for providers and consumers, has connected with national partners, and gets an increasing number of requests from providers interested in using telemedicine in their practice.  This workgroup provides regional partners with insight on licensing, credentialing, provider recruitment, implementation successes and barriers, and identifying new collaborators. 

In the past year, MSGRCC provided funding support for several projects and also participated in external projects benefitting the Mountain States Region.  These projects help MSGRCC meet its goals of strengthening the infrastructure for genetic services, improving care coordination for people with heritable disorders, and enhancing the delivery of services related to newborn screening. 

The Metabolic Newborn Screening Long-term Follow-up Study is led by Janet Thomas, MD at the University of Colorado School of Medicine.  This project initiated the formation of the Metabolic Consortium, a group of metabolic physicians and nutritionists from all states in the region.  The purpose of the Consortium is to develop shared datasets for metabolic disorders identified by newborn screening, with the goal of identifying effective practices for management of these disorders. A meeting of the Metabolic Consortium was held on July 13, 2010 and included the finalization of additional  shared datasets.  In December, 2010 Genetics in Medicine included an article on this project as part of a journal supplement.   Many of the shared datasets and accompanying parent handouts are available on the MSGRCC website (http://r20.rs6.net/tn.jsp?llr=ofyp6xbab&et=1105759742468&s=2128&e=0016KtKce6QXuHuRqhHmP_hwLnaYfwwsOtg6xMJiEHFAhhvpB7eSAnkDj4GJvaiiTpL0mobmUeLzRJAepsLxgKnqbgGGAYaTL5xdDCZbxIHt5gXVe6T8HFFR2Cjk9fkgTaY).  Parent handouts are also available in Spanish for three disorders, and translation for additional disease specific handouts is underway.  Similar materials are currently being developed for nurses and emergency personnel. 

To pilot the project and assess data availability and assessment for a specific disease, the project team collected data on newborn screening results, basic diagnostic laboratory data, initial radiology data, and clinical data on patients in Colorado and Wyoming identified through newborn screening with glutaric academia, type I.  These data were presented as a poster at the Association of Public Health Laboratories' Newborn Screening Symposium in May, 2010.  

During Year 4, MSGRCC also continued support for Improving Medical Homes and Transition Outcomes for Youth with Special Health Care Needs, with Laura Pickler, MD,  from the University of Colorado School of Medicine as Project Director.  Dr. Pickler received additional support for this project through the National Health Care Transition Center led by Dr. Carl Cooley.  This larger project focuses on transition services for all youth and young adults.  MSGRCC funding allows Dr. Pickler to contribute experiences of IMD/Genetics patients to the national project.  Since receiving funding from MSGRCC for Year 4, Dr. Pickler has conducted interviews of intellectually disabled adult patients in the IMD/Genetics clinic at The Children's Hospital in Aurora, CO.  These are patients who transitioned to adult care and then returned to pediatric providers, or who did not successfully transition at all by 18 or 21 years of age.  Additionally, the project team did interviews with cognitively normal siblings (all at least 18 years of age) of patients in the IMD/Genetics clinic to assess their transition experience to adult health care. Finally, the project includes one focus group with adult providers to assess their perspectives on transition services.    Synergy with the National Center on Health Care Transition is essential to the success of this project in the future.  Dr. Pickler's role as a cabinet member at the National Center makes synergy possible. 

Dr. Pickler and her project team have also provided technical assistance to the Heartland Regional Genetics Collaborative for their transition work.  Specifically, they have offered expert opinion, methodology advice, document review, and resource utilization advice.  In addition, Dr. Pickler has included the Heartland Region in several of the National Center on Health Care Transition activities. Dr. Pickler has also represented the Mountain States Region with Dr. Chuck Norlin and Brad Thompson on the National Coordinating Center for the Regional Genetic & Newborn Screening Collaboratives Medical Home Workgroup. 

MSGRCC has continued to support the travel-related activities for the annual meeting of the Hemoglobinopathies Work Group, led by Kathy Hassell, M.D., of the University of Colorado School of medicine.  The workgroup meeting was held in conjunction with the 2010 MSGRCC Annual Meeting in Denver, Colorado.  Representatives, including physicians, nurse practitioners, nurses, state health department NBS staff, and community members from five states in the region (Arizona, Colorado, Montana, Texas, and Wyoming) were in attendance.  The group addressed four ongoing and emergent areas, including sickle cell trait demographics, sickle cell trait and athletes, the minimum dataset for the Newborn Screening Translational Research Network, and the Primary Care Sickle Cell Trait Education Module.

MSGRCC also supported travel for staff and review committee members on the Laboratory Quality Assurance Project, led by Marzia Pasquali, Ph.D. (provide her title with ARUP).  This project prepares educational challenges for metabolic laboratories. A meeting with the review committee and project participants was held in July, 2010, during which the educational challenges and materials were discussed.  In Year 4, ARUP Laboratories has supported other project functions, including preparation of the educational challenges and development of the educational materials.  MSGRCC will continue to provide space on its website for sharing these materials. MSGRCC also provides time at the annual and mid-year workgroup meetings for project presentations.

The MSGRCC was awarded supplemental funding in May, 2010 for innovative projects in telehealth and telemedicine to improve access to genetic and newborn screening services and information in the region.  Two projects were funded in September, 2010.  The Montana Tele-genetics Project: Improving Access, Educating Providers, and Consumers, led by Susan Landgren, MS, is working to increase access to this service in a time- and cost-effective manner by implementing and expanding telemedicine genetic counseling. To date, there have been oncology and OB/GYN genetic counseling consultations conducted utilizing telemedicine. Billings Clinic and the Eastern Montana Telehealth Network also partnered with Shodair Hospital to provide additional genetic services. Since the beginning of this project, two genetics consultations have been conducted with Shodair and two with Denver Children's Hospital. Raising awareness and changing practice patterns have been the greatest challenges. The Billings Clinic oncology department has fully integrated telemedicine into their practice pattern. Adding genetic counseling broadens the depth and breadth of service available to their patients. There has been less progress with OB/GYN physicians. Making genetic counseling available earlier in the patient care process is a new model of care that has proved to be challenging for the OB/GYN physicians to embrace.

To publicize this project, a press release was developed and distributed to multiple news sources in the first month of the project. Press coverage of the project was included in the Billings Gazette and on local TV stations (http://r20.rs6.net/tn.jsp?llr=ofyp6xbab&et=1105759742468&s=2128&e=0016KtKce6QXuGy3anBeNTt5PHDyZDjvJu4wYFbn4bd4HmjW0mweBlCsofXWyznvkOxmCUf82ncSbTEn_xW6mzp0a_On7uJ6o06CrUA4ZkjFnUoXkZsL-4w50lfgrGAUsax8iibsEOfPize6FJ5g6XUJlwHlvVub41lA2RROAE3ULtaxSg_WF8H0I2KN7ozc3GK6EdDQcufPD2UeUJ5jY0GPAnPZvakDALnWBMk7lR11xs=).  A post card announcing the new telegenetics services and advertising future continuing education programs was mailed to 900 providers in Montana, Wyoming, western North and South Dakota.

The Colorado Early Hearing Detection and Intervention Telemedicine program, led by Vickie Thomson, PhD, is housed at the Colorado Department of Public Health and Environment, Children with Special Health Care Needs unit, in partnership with the Marion Downs Hearing Center and The Children's Hospital (TCH).  The goal of this telemedicine project is to include genetic counseling in a community based comprehensive system of care for families and their children identified with hearing loss using a medical home approach. The objective is to increase the number of families with children identified with permanent hearing loss receiving genetic counseling services from 100 to 150 by 2012.  The single hearing loss genetic counselor in Colorado will use telehealth equipment for counseling sessions with families in remote areas. A pediatric audiologist in Durango, Colorado has selected families with newly diagnosed infants to participate in the project.  The Colorado Hearing Resource Coordinator facilitates the referral and assists the family with the equipment setup in their home.  Several genetic counseling visits are scheduled for the coming months.

The main obstacle encountered during project implementation has been selection of the most appropriate telehealth equipment. The selected equipment was recently installed and is currently undergoing testing.  The project team has identified two other communities that are interested in genetic telehealth.

The www.MountainStatesGenetics.org website continues to provide resources for both health professionals and consumers.  MSGRCC is grateful to the Western States Genetics Collaborative for assisting with website adjustments and maintenance during the last several months.  The newly designed and updated website continues to provide resources for both health professionals and consumers.  In the past year, a webpage for each state has been developed and includes demographic data, state resources and a link to the directory of genetic services.  From 2009 to 2010, the MSGRCC website had an 89% increase in unique visitors, and a 117% increase in the number of page loads.  According to the website statistics, approximately 33% of visitors stay on the website for greater than five minutes. 

Following the success of the April 2009 Community Conversation with the Navajo Nation, MSGRCC was awarded supplemental funding to expand the project.  MSGRCC proposed to conduct focus groups of family members in the Navajo Nation, to plan and implement a follow-up conversation with the Navajo Nation, and to implement a second Community Conversation in another Native American community.  As an activity of this project, MSGRCC hosted two listening sessions on March 17 and 18, 2011 with members of the Farmington and Gallup communities in New Mexico.  The listening sessions provided a space in which we could learn about how parents and families seek information about and services for their child with special health care needs.  The participants also shared their personal stories and their ideas for how access could be improved.  An outcomes report, with recommendations for MSGRCC, is being finalized.   The remaining Community Conversations are being planned for the upcoming year. 

MSGRCC held its Annual Meeting in Denver on July 13-16, 2010.  The meeting included project meetings, workgroup meetings, an Advisory Council meeting where small grant projects were reviewed, and a series of plenary presentations, including project updates, a keynote by Dr. Ned Calonge from the Colorado Department of Public Health and Environment, a presentation by Dr. Ricky Bass from Louisiana State University, and a panel presentation with three youth who described their transition experiences.  Visit http://r20.rs6.net/tn.jsp?llr=ofyp6xbab&et=1105759742468&s=2128&e=0016KtKce6QXuGEcRPwXtvuNhiGPg0vqpV8k_CHrAvYUrj55VvEUf_Wh95rd1ELQfsVKMxh2YMQwmHtD50Amzc3l5642UlYTGggrEC4mBZUerWmmxfEmO5FU807K9IILnJ3 for more information.

Celia Kaye, Project Director, MSGRCC - Celia.Kaye@ucdenver.edu

Joyce Hooker, Project Manager, MSGRCC - jhooker@msgrcc.org &

Liza Creel, Project Coordinator, MSGRCC - lcreel@msgrcc.org &

Website: http://r20.rs6.net/tn.jsp?llr=ofyp6xbab&et=1105758046034&s=0&e=001SONlGE6UXeRECsX2-bqUiRU-xZ4lYB8kpXPmV0iohBwi7L34yYURieb4JPF8xRCdfEi9r6nrjnPIwEVqn-ynzMdiIVGCud3w90QuKnI6BBz5vfHoCR52XrcnOsY_vUZk_O0YNrPm5v4=