National Coordinating Center for the Regional Genetic and Newborn Screening Service

National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives (NCC) About us The National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives (NCC) is funded via a cooperative agreement between the American College of Medical Genetics (ACMG) and the Genetic Services Branch—Division of Services for Children with Special Health Needs, Maternal Child Health Bureau, Health Resources and Services Administration (GSB/DCSHN/MCHB/HRSA). Through GSB’s heritable disorders program, along with seven regional collaboratives (RCs), the NCC strives to improve the health of children and their families by promoting the translation of genetic medicine into public health and health care services. NCC Structure and Staff Staff Role Michael S. Watson, PhD, Project Director Broad project oversight and direction, liaison with other national activities Barry Thompson, MD, ACMG Medical Director ACT Sheet staff lead, AAP QuIIN Project NCC professional liaison Judith Benkendorf, MS, CGC, Associate Project Director External relations between NCC and other national activities; special NCC projects, including the NCC Collaborator Alisha Keehn, MPA, Project Manager Day-to-day project management Amy Brower, PhD, Project Manager—LTFU Long-term follow-up supplement day-to-day project management Meredith Weaver, ScM, CGC, Associate Project Manager GIS Directory & health services research Gloria Weissman, Consultant NCC and RC evaluation, & Publications Workgroup Lori Oxendine, Graphics Manager Graphics and NCC Collaborator production Claudia McNatt, Meeting Manager Meeting coordination Matthew Tranter, Administrative Assistant Administrative support

Oversight Our Advisory Committee is comprised of the NCC and RC leadership, HRSA GSB staff, and key partner organizations (e.g., NNSGRC, AAP, APHL, NICHD). Overarching Goal of the NCC All NCC activities work towards facilitating the movement of quality genetic and newborn screening (NBS) services to local communities, and building bridges between public health, primary care/Medical Home, geneticists and other specialists, and families. Alphabet Soup ACMG—American College of Medical Genetics NCC—National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives GSB/DSCSHN/MCHB/HRSA—Genetic Services Branch—Division of Services for Children with Special Health Needs, Maternal and Child Health Bureau, Health Resources and Services Branch RC—Regional Genetic and Newborn Screening Service Collaboratives, aka: HRSA Genetics Collaboratives NICHD—Eunice Kennedy Shriver National Institute of Child Health and Human Development (NIH) NBSTRN—Newborn Screening Translational Research Network (housed at NICHD) NBSTRN CC—Newborn Screening Translational Research Network Coordinating Center (housed at ACMG) SACHDNC—Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (HRSA staff support the committee, which reports to the Secretary of Health and Human Services)

New and Ongoing NCC Activities During the course of 2009-10, NCC has been engaged in many new initiatives and continuing activities in the following categories, including:

 Infrastructure—increasing genetics knowledge and expertise o AAP Medical Home Visiting Professorships (MHVP) and Genetics Visiting Professorships (GVP) Program . 2010-11 Based on program evaluations and reports back to NCC, the program will be supported for a second year . 2 RCs received awards: SERC and MSGRCC; 3 state AAP chapters received awards: SD, VA, & DC. o NCC and RC Evaluation Program . NCC’s Evaluation workgroup convened in 2007 to develop a national evaluation for the RCs. Each RC has a representative participating on the workgroup . Workgroup established outcome measures to:  Measure the progress being made by the RCs toward the major goals of this initiative; and  Identify areas in which collaboration among and technical assistance from the RCs, the NCC, and HRSA could help move these goals forward. . The group emphasized funding common outcome measures for all the RCs to track and report on annually that would be complementary to individual evaluations undertaken in each RC. . 7 evaluation domains and 10 outcome measures selected, with 4 outcome measures proposed for consideration as official MCHB performance measures:  Improved collaboration between primary and specialty (including genetic) providers;  Short-term follow-up;  Long-term follow-up; and  Distribution of information on genetic conditions to primary care providers. . Baseline data submitted by RCs in 2007, first year of data submitted 2008, first report submitted to HRSA 9/09, second year of data submitted 12/09 and being analyzed currently. Report will be submitted late summer. . Activity Matrices developed by NCC to help identify activities and strategies are helpful in achieving progress toward these goals. Two matrices list completed activities, and current and planned activities.  The current and planned activities matrix is reviewed on tri-annual calls that include GSB/MCHB/HRSA, NCC, and each RC.  Technical Assistance . Bill Perry, Emergency Preparedness Consultant, continues to provide customized support to each RC and also leads the national work at NCC. He has been leading table top exercises that cross between clinicians, laboratorians, public health staff, and consumers. Additionally, he is working on a number of materials to help programs develop a plan; a resource directory of genetics professionals willing to assist in a disaster; linking the NCC/RC system with Federal Emergency Management Agency (FEMA) and National Emergency Management Association (NEMA); and helping increase understanding of Emergency Management Assistance Compact (EMAC).

2  Communication o New Activities: . Starting 1/09, Kathy Ridgely Beal, Director of Public Relations, has begun working with the NCC/RCs to assist in increasing awareness of RC activities beyond the NCC/RC system.  Prepared and disseminated message points and press release on RCs and NCC  Developed a list of RC sortable list of PR contacts, that is updated periodically.  During the current year she has been providing comprehensive review and feedback of RC websites. To date 3 have been completed.  Other activities are being planned with communication liaisons that will continue through 2010. . “Just-in-time” e-mail updates to RC leadership regarding NCC Workgroup meetings, other NCC activities and projects, ACMG items of interest, and other breaking news topics. . Increased visibility via NCC/RC exhibits and presentations

AMCHP 2010 ACMG Annual Meeting 2009/2010

o Ongoing Activities: . NCC Collaborator, quarterly newsletter. Themed issues highlight each region’s activity in a particular area. The Collaborator is distributed throughout HRSA, the RCs, and other partner organizations. . Monthly calls with HRSA, NCC, and RCs. . NCC website has undergone a complete redesign. www.nccrcg.org  Policy Initiatives o Access to Medical Foods and Formulas . Consultant compiled state rules and regulations related to coverage for medical foods and formulas. . Manuscript Published June 2010, Genetics in Medicine. 12(6):364-369, June 2010. o Telegenetics Policy Meeting . November 5-6, 2009 discussed policy issues related to interstate telehealth services and various mechanisms of utilizing limited genetics expertise across state lines; as well as ways to mitigate barriers to genetic services. . May 2011 meeting to be held in conjunction with the American Telemedicine Association (ATA).

3  NCC Workgroups o 9 NCC workgroups: ACT Sheets (joint ACMG/NCC group), Communication Liaisons, Emergency Preparedness, Evaluation, Long-Term Follow-Up (meets jointly with NBSTRN clinical centers workgroup), Medical Home, Publications, Telegenetics, and Website. o Workgroups are comprised of RC representatives, NCC staff, HRSA, and national experts. o One common goal of the RCs is to provide regional stakeholders with tools to increase their ability to provide local level resources and technical assistance to states. o NEW WORKGROUP: Medical Home, established at the June 2010 NCC/RC PD meeting to facilitate the local work of the RCs by clarifying the definition of medical home, identify promising practices, engage in activities that will facilitate improved communication and linkages between genetic expertise and primary care providers, and move successful regional projects to national level as they develop.  NCC-specific Activities o ACT Sheet Workgroup (funded by HRSA and ACMG) met in July 2009 to review newly proposed and existing ACT Sheets. The ACMG Board approved the revisions, which are now available on the ACMG website. . AAP subcontract awarded to undertake a quality improvement project (QuIIN) to comprehensively analyze the ACT Sheets. This two-phased project will begin with a utility analysis of 10 selected ACT sheets and then follow with an in-depth quality improvement evaluation of gaps in care and suggested changes and improvements. o ACT Sheet Workgroup now engaged in developing transition to adult care ACT Sheets as recommended by the ad hoc Transition SIG. The workgroup met July 28-29, 2010 in San Francisco, CA and finalized the new round of ACT Sheets, those will be going out for expert subgroup review and include: LSDs (Gaucher, Pompe, Niemman-Pick, Fabry, Krabbe), SCID, Sickle Cell Transition, Maternal PKU, SMA Carrier, and Ashkenazi Jewish Carrier screening ACT Sheets. . The group will meet again via conference call this fall and in-person early 2011. o Medical Student Education Project: in partnership with a local medical school, NCC is piloting a 3rd year medical student module during the family practice clinical rotation. This involves an hour long case-based interactive discussion followed by a course evaluation. This will be followed-up with an end-of-year evaluation. Discussions are underway to extend this throughout the medical student education at this university.  LTFU Supplement o Special funding to NCC to assist in coordinating and accelerating LTFU efforts through the NCC; engage in health informatics technology/information technology standardization efforts and to identify and capitalize on intersection points between effective follow-up in newborn screening grantees and other national/regional LTFU efforts, identify the data required by public health for LTFU. o Joint meetings with NBSTRN clinical centers workgroup to develop data and information in common across all NBS conditions needed for LTFU. Working towards identifying data and information specific to each of the 30 disease-specific FAODs. o Late 2010 or early 2011 a Public Health Workgroup will be convened to determine information needs for state NBS programs.  Partnering across federal agencies to ensure synergistic use of resources: o NICHD-funded NBSTRN and HRSA-funded NCC LTFU o Emergency Preparedness o Telehealth interstate licensing for genetic services.