Appendix A. NCC Organization Structure

Transcription

1 Appendix A. NCC Organization Structure 65

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3 NCC Organizational Structure AFFILIATED ORGRANIZATIONS AAP AUCD Parent to Parent USA NATIONAL COORDINATING CENTER FOR THE REGIONAL GENETIC SERVICES COLLABORATIVES PI/PD Michael S. Watson Medical Director Barry Thompson Project Manager Alisha Keehn Evaluator Deborah Maiese NATIONAL GENETICS EDUCATION AND CONSUMER NETWORK Co-PI/PD Sharon Terry --James O Leary --Sharon Romelczyk --Mark Petruniak HEALTH RESOURCES AND SERVICES ADMINISTRATION Genetic Services Branch Sara Copeland, MD (Former Chief) Jill Shuger, MS, Project Officer MCHB GRANTEES Catalyst Center Center for Medical Home Implementation Got Transition? LTFU/DATA COLLECTION EMR Project Manager Amy Brower IMPROVEMENT ADVISOR Jane Taylor, MeD (Project on Hold) EVALUATION CONSUMER ADVISORY GROUP EVALUATION WORKGROUP EVALUATION CONSULTANT Deborah Maiese EFU ACA Implementation Family History TELEGENETICS TRANSITION MEDICAL HOME ACT SHEETS/ CDS WORKGROUPS ARE QI LEARNING COLLABORATIVES Evaluation Technical Advisory Committee NEGC NYMAC SERC REGION 4 MIDWEST HEARTLAND MSGRCC WSGSC 67

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5 Appendix B. Roster of the Regional Collaborative Project Directors and Project Managers 69

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7 NCC/RC Project Director and Project Manager Roster New England Genetics Collaborative (NEGC) John Moeschler, MD NEGC Project Director Department of Pediatrics Dartmouth Medical School One Medical Center Drive Lebanon, NH (tel) Monica McClain NEGC Project Co-Project Director University of New Hampshire 10 West Edge Drive, Suite 101 Durham, NH (tel) (fax) New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC) Michele Caggana, PhD, ScD, FACMG NYMAC Co-Project Director New York State Dept Health Wadsworth Center PO Box 509, Empire State Plaza Albany, NY (tel) (fax) Joann Bodurtha, MD, MPH NYMAC Co-Project Director McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University 600 N. Wolfe Street Blalock 1008 Baltimore, MD (tel) (fax) Katharine B. Harris, MBA NYMAC Project Manager NYS Genetic Service Program Administrator Newborn Laboratory Wadsworth Center New York State Department of Health PO Box 509 Albany, NY (tel) (fax) Kunal Sanghavi, MBBS, MS NYMAC Project Coordinator 600 N Wolfe St, Blalock 1008 Baltimore, MD (tel) (fax) Ksanghavi1@jhmi.edu Southeast NBS and Genetics Collaborative (SERC) Hans Andersson, MD SERC Co-Project Director Professor, Human Genetics Program Tulane University 1430 Tulane Ave, SL 31 New Orlean, LA (tel) (fax) handers@tulane.edu Rani Singh, PhD SERC Co-Project Director Associate Professor Director, Emory Genetics Metabolic Nutrition Program Department of Human Genetics Emory University School of Medicine 2165 North Decatur Road Decatur, GA (tel) (fax) rsingh@emory.edu 71

8 Region 4 Genetics Collaborative (Region 4) Lisa Gorman, PhD Region 4 Program Director Systems Reform Program Michigan Public Health Institute 2342 Woodlake Drive Okemos, MI (tel) (fax) lgorman@mphi.org Gina Gembel Region 4 Senior Project Coordinator Michigan Public Health Institute 2342 Woodlake Drive Okemos, MI (tel) ggembel@mphi.org Janice Bach, MS, CGC Region 4 Co-Project Director Genomics and Genetic Disorders Section 201 Michigan Department of Community Health Townsend St. P.O. Box Lansing, MI bachj@michigan.gov Heartland Regional Genetics and Newborn Screening Collaborative (Heartland) Brad Schaefer, MD, FACMG Heartland Project Director University of Arkansas for Medical Sciences 1 Children s Way, Slot Little Rock, AR (tel) (fax) schaefergb@uams.edu Klaas Wierenga, MD Heartland Co-Project Director Associate Professor, Section of Genetics, Department of Pediatrics Oklahoma University Children's Physician Building 1200 N. Phillips Ave, Suite Oklahoma City, Oklahoma (tel) (fax) klaas-wierenga@ouhsc.edu Lori Williamson Dean, MS, CGC Heartland Project Manager Assistant Professor, Department of Genetic Counseling University of Arkansas for the Medical Sciences 4301 W. Markham Street Little Rock, AR (tel) LWDean@uams.edu Shona R. Whitehead Heartland Program Coordinator University of Oklahoma Health Sciences Center 1200 N Phillips Ave. Suite Oklahoma City, OK (tel) Shona-whitehead@ouhsc.edu 72

9 Mountain States Genetics Regional Collaborative Center (MSGRCC) Celia Kaye, MD, PhD MSGRC Project Director University of Colorado School of Medicine Briar Leaf Court Parker, CO (tel) (fax) Kathryn Hassell, MD MSGRC Co-Project Director Associate Professor Department of Medicine, Division of Hematology University of Colorado Health Sciences Center 4200 East Ninth Avenue, Campus Box B-170 Denver, CO (tel) Liza Creel, MPH MSGRC Project Manager Texas Health Institute 8501 North MoPac, Suite 300 Austin, Texas Joyce Hooker MSGRC Project Manager (tel) (fax) Donna Williams MSGRC Project Coordinator Texas Health Institute 8501 North MoPac, Suite 300 Austin, TX (tel) (fax) Western States Genetic Services Collaborative (WSGSC) Sylvia Au, MS, CGC WSGSC Co-Project Director Hawaii Department of Health 741 Sunset Avenue Honolulu, HI Lianne Hasegawa, MS, CGC WSGSC Project Coordinator Hawaii Department of Health 741 Sunset Avenue Honolulu, HI Jennifer Boomsma, MS, CGC WSGSC Project Coordinator Hawaii Department of Health 741 Sunset Avenue Honolulu, HI (tel)

10 National Coordinating Center for the Regional Genetic and Newborn Screening Services Collaboratives (NCC) Michael Watson, PhD NCC Project Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) James O Leary NGECN Project Director Genetic Alliance 4301 Connecticut Avenue, NW Suite 404 Washington, DC x211 (tel) (fax) joleary@geneticalliance.org Barry Thompson, MD Medical Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) bthompson@acmg.net Alisha Keehn, MPA NCC Project Manager ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) akeehn@acmg.net Amy Brower, PhD Project Manager NCC/LTFU ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) abrower@acmg.net Sharon Romelczyk, MPA NGECN Project Manager Genetic Alliance 4301 Connecticut Avenue, NW Suite 404 Washington, DC (tel) (fax) sromelczyk@geneticalliance.org Debbie Maiese NCC Evaluator ACMG 7220 Wisconsin Ave, Suite 300 Bethesda, MD (tel) (fax) dmaiese@acmg.net Sophia Stich NCC Project Coordinator ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) sstich@acmg.net 74

11 Health Resources and Services Administration (HRSA) Sara Copeland, MD Chief, Genetics Services Branch Division of Services for Children with Special Health Needs Maternal and Child Health Bureau Health Resources and Services Administration 5600 Fishers Lane, Room 18A-19 Rockville, MD (tel) (fax) Bonnie Strickland, Ph.D. Director, Division of Services for Children with Special Health Care Needs Maternal and Child Health Bureau Health Resources and Services Administration 5600 Fishers Lane, Room 18A-19 Rockville, MD (tel) (fax) Jill Shuger, MS NCC and RC Project Officer Genetic Services Branch Division of Services for Children with Special Health Needs Maternal and Child Health Bureau Health Resources and Services Administration 5600 Fishers Lane, Room 18A-19 Rockville, MD (tel) (fax) 75

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13 Appendix C. Roster of the Evaluation Workgroup 77

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15 New England Genetics Collaborative (NEGC) Peter Antal, PhD NEGC Project Evaluator Institute on Disability University of New Hampshire 56 Old Suncook Road, Suite 2 Concord, NH (tel) (fax) Peter.antal@unh.edu NCC/RC Evaluation Workgroup Roster New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC) Katherine B. Harris, MBA NYMAC Project Manager NYS Genetic Service Program Administrator Newborn Laboratory Wadsworth Center New York State Department of Health PO Box 509 Albany, NY (tel) (fax) kbh02@health.state.ny.us Susanna Ginsburg, MSW NYMAC Project Evaluator Evaluation Consultant SG Associates Consulting 425 E. 79th Street 12G New York, NY (tel) (fax) sue@sgassociates.net Southeast NBS and Genetics Collaborative (SERC) Joseph Telfair, DrPH, MSW, MPH SERC Project Evaluator Professor, Public Health Research & Practice Director, UNCG Center for Social, Community & Health Research & Evaluation University of North Carolina at Greensboro 1111 Spring Garden Street, Room 3705 P.O. Box Greensboro, NC (tel) (fax) j_telfai@uncg.edu Gaurav J. Dave, MD, DrPH, MPH Administrative Director NC TraCS Institute Community Academic Resources for Engaged Scholarship University of North Carolina at Chapel Hill 233 Brinkhous-Bullitt 160 N. Medical Drive, CB # 7064 Chapel Hill, NC (tel) (fax) gjdave@ .unc.edu 79

16 Region 4 Genetics Collaborative (Region 4) Lisa Gorman, PhD, workgroup co-chair Region 4 Program Director Systems Reform Program Michigan Public Health Institute 2342 Woodlake Drive Okemos, MI (tel) (fax) lgorman@mphi.org Liz Ritchie, MS Region 4 Project Evaluator Senior Project Coordinator Center for Healthy Communities Michigan Public Health Institute 2342 Woodlake Drive Okemos, MI (tel) (fax) lritchie@mphi.org Heartland Regional Genetics and Newborn Screening Collaborative (Heartland) Lori Williamson Dean, MS, CGC Heartland Project Manager Assistant Professor, Department of Genetic Counseling University of Arkansas for the Medical Sciences 4301 W. Markham Street Little Rock, AR (tel) LWDean@uams.edu Barbara Jackson, PhD Heartland Project Evaluator Munroe-Meyer Institute Nebraska Medical Center Omaha, NE (tel) (fax) bjjackso@unmc.edu Mountain States Genetics Regional Collaborative Center (MSGRC) Celia Kaye, MD, PhD MSGRC Project Director University of Colorado School of Medicine Briar Leaf Court Parker, CO (tel) (fax) celia.kaye@ucdenver.edu Kathryn Hassell, MD MSGRC Co-Project Director Associate Professor Department of Medicine, Division of Hematology University of Colorado Health Sciences Center 4200 East Ninth Avenue, Campus Box B-170 Denver, CO (tel) Kathryn.hassell@ucdenver.edu Sharon Homan, PhD MSGRC Project Evaluator Professor and Interim Chair of Biostatistics Director, Biostatistics and Evaluation Services and Training UNTHSC School of Public Health 3500 Camp Bowie Blvd. Fort Worth, TX (tel) (fax) Sharon.homan@unthsc.edu Liza Creel, MPH MSGRC Project Manager Texas Health Institute 8501 North MoPac, Suite 300 Austin, Texas (tel) (fax) lcreel@msgrcc.org lcreel@texashealthinstitute.org 80

17 Western States Genetic Services Collaborative (WSGSC) Sylvia Au, MS, CGC Western States Project Director Hawaii Department of Health Hawaii Department of Health 741 Sunset Avenue Honolulu, HI (tel) (fax) Jacquie Stock WSGSC Project Evaluator Seattle Children s Center for Children with Special Needs th Avenue, CW8-6 Seattle, WA (tel) Jacquie.stock@seattlechildrens.org National Coordinating Center for the Regional Collaborative Groups (NCC) Michael Watson, PhD NCC Project Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) mwatson@acmg.net Barry Thompson, MD Medical Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) bthompson@acmg.net Alisha Keehn, MPA NCC Project Manager ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) akeehn@acmg.net Amy Brower, PhD Project Manager NCC/LTFU ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) abrower@acmg.net Debbie Maiese, MPA NCC Evaluator ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) dmaiese@acmg.net Sharon Romelczyk, MPA NGECN Project Manager Genetic Alliance 4301 Connecticut Avenue, NW Suite 404 Washington, DC x211 (tel) (fax) sromelczyk@geneticalliance.org Sophia Stich NCC Project Coordinator ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD (tel) (fax) sstich@acmg.net 81

18 Health Resources and Services Administration (HRSA) Sara Copeland, MD Chief, Genetics Services Branch Division of Services for Children with Special Health Needs Maternal and Child Health Bureau Health Resources and Services Administration 5600 Fishers Lane, Room 18A-19 Rockville, MD (tel) (fax) Jill Shuger, MS NCC and RC Project Officer Genetic Services Branch Division of Services for Children with Special Health Needs Maternal & Child Health Bureau (MCHB) Health Resources and Services Administration (HRSA) 5600 Fishers Lane, Room 18A-19 Rockville, MD (tel) (fax) 82

19 Appendix D. Roster of the Technical Workgroup 83

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21 Technical Advisory Workgroup Roster for the Evaluation of the National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives Jamelle E. Banks, MPH Office of Science Policy, Analysis & Communication (OSPAC) Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health 31 Center Drive, Room 2A18 Bethesda, MD Phone: (301) Fax: (301) Denise Dougherty, Ph.D. Senior Advisor, Child Health and Quality Improvement Agency for Healthcare Research and Quality 540 Gaither Road Rockville, MD Phone: (301) Reem M. Ghandour, DrPH, MPA Office of Epidemiology and Research Maternal and Child Health Branch Health Resources and Services Administration 5600 Fishers Lane Room Rockville, MD Phone (301) Fax: (301) Cynthia F. Hinton, PhD, MS, MPH Health Scientist, Pediatric Genetics Team Division of Birth Defects and Developmental Disabilities National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention 1600 Clifton Road, NE, Mail stop E-86 Atlanta, GA Phone (404) Fax (404) or Jill Shuger, MS NCC and RC Project Officer Genetic Services Branch Division of Services for Children with Special Health Needs Maternal & Child Health Bureau (MCHB) Health Resources and Services Administration (HRSA) 5600 Fishers Lane, Room 18A-19 Rockville, MD Phone: Fax: Rebecca Hines, MHS Chief, Health Promotion Statistics Branch Office of Analysis & Epidemiology National Center for Health Statistics Centers for Disease Control and Prevention 3311 Toledo Road, Room 6316 Hyattsville, MD Phone (301) Mobile: (301) Fax:

22 NCC Staff Mike Watson, PhD NCC Project Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD Phone: Fax: Barry Thompson, MD Medical Director ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD Phone: Fax: Alisha Keehn, MPA NCC Project Manager ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD Phone: Fax: Debbie Maiese NCC Evaluator ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD Phone: Fax: Sophia Stich NCC Project Coordinator ACMG 7220 Wisconsin Avenue, Suite 300 Bethesda, MD Phone: Fax:

23 Appendix E. Three-tier Evaluation Model 87

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25 3-Tier ASPIRE Model of National Evaluation Evaluation (3 HP 2020 Objectives) Impact Tracked through periodic surveys using nationally validated questions. Cluster Inter RC Evaluation RCs with common projects will report on a common set of measures in addition to their project specific measures. E.G. Telegenetics Local RC Evaluation Evaluations and annual reporting on RC-specific projects (as each RC detailed in their application) 89

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27 Appendix F. NCC Logic Model 91

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29 NCC/RC Program Logic Model 93

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31 Appendix G. RC Projects By HP2020 Objectives 95

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33 SUMMARY OF RC Projects by Selected HP2020 Objectives - November 2012 HP2020 Objectives Region 1- NEGC Region 2-NYMAC Region 3-SERC Region 4 Region 5- Heartland Region 6- MSGRC Region 7-WSGSC MICH -31 Coordinated Care Metabolic Centers QI Learning Collaborative - quality improvement of metabolic center care of patients with inborn errors of metabolism (PKU and MCAD) Continuation of Specific Newborn Screening Projects from Last Cycle: Enable Implementation of the SACHDNC Recommendations Medical Home and Transitioning Core - linkages between NBS programs, families, and child health care providers; and (b) increase the number of medical home providers. Family Forum - multiple media methods to deliver family messages, tools and resource Expansion of Telemedicine - telemedicine clinic expansion Mountain States Medical Home and Family Partnership Project - training parents Adult access to genetic services - assess + address gaps + education Genetics Quality Improvement Process - expand and improve the Medical Genetics QI process to additional centers CCHD Newborn Screening educational materials for parents and developing CCHD screening protocols and follow-up reporting methods Develop and implement communication strategies - strengthen the communication among the stakeholders as well as with NYMAC Continue emergency preparedness activities for newborn screening programs Care Coordination: Empowering Parents training parents Heartland Individual Health Plan Project - Use the Individualized Health Plan to enhance coordinated, continuous and family-centered care Colorado Tele-Genetic Counseling for Newborn Hearing Loss and Metabolic Disorders Mini-Project identify sites, educate teams and utilize the Hands & Voices Parent Guides to provide parent to parent support. Tuba City mheath Project - telemedicine for Native American children Montana Telegenetics genetic counseling via the telemedicine network in Montana, North Dakota and Wyoming Note this project is awaiting support from carryover funding Genetic Services Practice Model - increase access to genetic services using outreach and telehealth services Genetics/Genomics in the Medical Home Ready for Health Care Reform identify policies, practices. gaps or needs in genetic services and disseminate information about health care reform impact on specialty genetic services. Regional Medicaid Review Committee - help state Medicaid programs determine whether or not a particular requested test or other genetic service would be helpful in the diagnosis, treatment or management of the patient. 97

34 HP2020 Objectives Region 1- NEGC Region 2-NYMAC Region 3-SERC Region 4 Region 5- Heartland Region 6- MSGRC Region 7-WSGSC MICH -30 Medical Home MICH -30, contd. CCHD Newborn Screening (also in MICH 31) Residents in training Improve the Knowledge of Genetics and Genomics among Title V and Medicaid Health Professionals Develop and implement communication strategies -(also in MICH 31) Link Federally-qualified Health Centers and School-based Health Clinics to Specialty Centers Identify and Implement Other Efforts with Programs such as Healthy Start, Title X, Strong Star Integrate LEND Programs into Newborn Screening, Genetic Services and Specialty Care Support the new MCHB Home Visiting Programs Continue emergency preparedness activities for newborn screening programs Medical Home and Transitioning Core (also in MICH 31 and Hc/HIT 2) Family Forum -(also in MICH 31) NA Tuba City mheath Project (also in MICH 31) Montana Telegenetics (also in MICH 31) Medicaid Review Committee (also in MICH 31) Adult access to genetic services(also in MICH 31) Genetic Services Practice Model (also in MICH 31) 98

35 HP2020 Objectives Region 1- NEGC Region 2-NYMAC Region 3-SERC Region 4 Region 5- Heartland Region 6- MSGRC Region 7-WSGSC MICH 32.2 Follow-up Testing DH 5 Transition Planning Metabolic Centers QI Learning Collaborative (also in MICH 31) Genetics Quality Improvement Process (also in MICH 31) CCHD Newborn Screening (also in MICH 31) Long Term Follow Up activities of children and youth with disorders identifiable by newborn screening Application of the Health Care Transition Algorithm - School Nurses and Health Care Transition Demonstration Project Link Federally-qualified Health Centers and School-based Health Clinics to Specialty Centers (also in MICH 30) Identify and Implement Other Efforts with Programs such as Healthy Start, Title X, Strong Star (also in MICH 30) Integrate LEND Programs into Newborn Screening, Genetic Services and Specialty Care (also in MICH 30) Support the new MCHB Home Visiting Programs (also in MICH 30) Continue emergency preparedness activities for NBS programs (also in MICH 31) Develop and implement communication strategies -(also in MICH 31) Assess and implement effective consumer engagement strategies Work with Primary Care Associations to identify needs concerning primary care and specialty care centers Inter-regional Collaboration on Transitioning - collect, evaluate and disseminate transition tools Project 2 NBS Long- Term Follow-Up (LTFU) and Access to Quality Healthcare Services Core - develop a NBS LTFU taskforce Inter-regional Collaboration on Transitioning (also in MICH 32.2) Public Health Longterm Follow-Up Workgroupsurveillance Family Forum -(also in MICH 31) Congenital Hypothyroidism 3- Year Follow-Up - increase the knowledge of families and providers NA NA Healthcare Transition- providers knowledge Heartland Individual Health Plan Project- (also in MICH 31) Improving Medical Homes and Transition Outcomes for Youth Served in IMD Clinics - complete data collection and analysis NBS discussion on OB/GYN checklist Adult access to genetic services(also in MICH 31) 99

36 HP2020 Objectives Region 1- NEGC Region 2-NYMAC Region 3-SERC Region 4 Region 5- Heartland Region 6- MSGRC Region 7-WSGSC MICH 32.3 Annual Assessment HC/HIT -2 Communication Skills Collaborate with the Federally-funded Hemophilia, Thalassemia and Sickle Cell Disease Treatment Centers Support the new MCHB Home Visiting Programs (also in MICH 30, 32.2) Continue to Collaborate with the six RCs, the NCC and affiliates Continue emergency preparedness activities for newborn screening programs (also in MICH 31 & 32.2) Sources: RC Evaluation Measure Templates, November 2012 Medical Home and Transitioning Core (also in MICH 30 and 31) Family Forum -(also in MICH 31) Long Term Follow-UP - NBS workshops for key stakeholders (public health, clinical services, patients and advocates) Expansion of Telemedicine - telemedicine clinic expansion (also in MICH 31) 2. Assess access to adult genetic services, 7. Family health history project, 7. Translate genomics into clinical practice and public health (prepare genomic messages), 8. Project related to fostering patient-provider communication/partnerin g 100

37 Appendix H. RC Projects By HRSA Priorities 101

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39 SUMMARY OF RC PRIORITIES - November 2012 Priorities Region 1- NEGC Region 2- NYMAC Region 3- SERC Region 4 Region 5- Heartland Region 6- MSGRC Region 7- WSGSC 1. Treat in the context of a medical home 2. Cultural competency and diversity in outreach projects 3. Expand the pool of the genetic service workforce 4. Build state public health department capacity 5. Strengthen publicprivate partnerships 6. Collaborate and partner with HRSA MCHB-funded programs that promote the scaling up of effective practices 7. Improve insurance coverage policy and reimbursement 8. Expand state and regional collaborative systems of cohorts of patients for long-term monitoring and analysis of follow-up and treatment for provider and/or patient access. 9. Address emergency preparedness OTHERS not in RFA (NEGC-Improve quality of care for patients and families with conditions identifiable by NBS.) X X X X X X x X X X x X X X X x X X X X x X X X X X x X X X X X x X X x X X X X X x X X x X X X x X NOTE: Additions and deletions as reflected on the Evaluation Measure Templates submitted by RCs to the NCC in November 2012ncc

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41 Appendix I. Working Together Survey Instrument & Survey Data 105

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43 1. Please indicate your participation type in your regional collaborative: (For participants other than consumers, please indicate your professional discipline (NOT your job title) a. Consumers (affected individuals & family members including representatives of family and disease-specific organizations). b. Genetic Counselor (Masters trained) c. Other genetic services provider d. Medical Geneticist e. Non-geneticist specialty physician (e.g., endocrinologist) f. Primary care physician g. Other healthcare provider (e.g., RN, midwife, phlebotomist) h. Social service provider (e.g., MSW) i. Public health genetics professional j. Public health non-genetics professional k. Newborn screening professional (e.g., laboratory, follow-up staff) l. Health insurance representative m. Legislator or legislative staff. 2. Context of the Collaboration 2.1 The timing is right to address the Newborn Screening and Genetic issues about which we are collaborating. True More true than false More false than true False 2.2 The collaborative is responding to the critical issues that currently face genetics and newborn screening. True More true than false More false than true False 3. The structure of the Collaboration. 3.1 Our collaboration has access to information and uses it to support problem solving and decision-making. True More true than false More false than true False 3.2 Our group has access to the expertise necessary for effective meetings. True More true than false More false than true False 107

44 3.3 We have adequate physical facilities to support the collaborative efforts of the group and its sub-committees. True More true than false More false than true False 3.4 We have adequate staff assistance to plan and administer the collaborative effort. True More true than false More false than true False 3.5 The membership of our group includes those stakeholders affected by the issue. True More true than false More false than true False 3.6 Our membership is not dominated by any one group or sector. True More true than false More false than true False 3.7 Stakeholders have agreed to work together on this issue. True More true than false More false than true False 3.8 Stakeholders have agreed on what decisions will be made by the group. True More true than false More false than true False 3.9 Our group has set ground rules and norms about how we will work together. True More true than false More false than true False 3.10 We have a method for communicating the activities and decisions of the group to all members. True More true than false More false than true False 108

45 3.11 Our collaboration is organized in working sub-groups when necessary to attend to key performance areas. True More true than false More false than true False 3.12 There are clearly defined roles for group members. True More true than false More false than true False 4 Collaboration Members 4.1 Members are more interested in getting a good group decision than improving the position of their home organization. True More true than false More false than true False 4.2 Members are willing to let go of an idea for one that appears to have more merit. True More true than false More false than true False 4.3 Members have the communication skills necessary to help the group progress. True More true than false More false than true False 4.4 Members of the collaboration balance task and social needs so that the group can work comfortably and productively. True More true than false More false than true False 4.5 Members are effective liaisons between their home organizations and the group. True More true than false More false than true False 109

46 4.6 Members are willing to devote whatever effort is necessary to achieve the goals. True More true than false More false than true False 4.7 Members monitor the effectiveness of the process. True More true than false More false than true False 4.8 Members sufficiently trust each other to honestly and accurately share information, perceptions and feedback. True More true than false More false than true False 5 The Collaboration Process 5.1 We frequently discus how we are working together. True More true than false More false than true False 5.2 Divergent opinions are expressed and listened to. True More true than false More false than true False 5.3 The process we are engaged in is likely to have a real impact on the problem. True More true than false More false than true False 5.4 We have an effective decision-making process. True More true than false More false than true False 5.5 The openness and credibility of the process help members set aside doubts or skepticism. True More true than false More false than true False 110

47 5.6 There are strong, recognized leaders who support this collaborative effort. True More true than false More false than true False 5.7 Those who are in positions of power or authority are willing to go along with our decisions or recommendations. True More true than false More false than true False 5.8 We set aside vested interests to achieve our common goal. True More true than false More false than true False 5.9 We have a strong concern for preserving a credible, open process. True More true than false More false than true False 5.10 We are inspired to be action-oriented. True More true than false More false than true False 5.11 We celebrate our group s successes as we move toward achieving the final goal. True More true than false More false than true False 6 The Results of the Collaboration 6.1 We have concrete measurable goals to judge the success of our collaboration. True More true than false More false than true False 6.2 We have identified interim goals to maintain the group s momentum. True More true than false More false than true False 111

48 6.3 There is an established method for monitoring performance and providing feedback on goal attainment. True More true than false More false than true False 6.4 Our group is effective in obtaining the resources it needs to accomplish its objectives. True More true than false More false than true False 6.5 Our group is willing to confront and resolve performance issues. True More true than false More false than true False 6.6 The time and effort of the collaboration is directed at obtaining the goals rather than keeping itself in business. True More true than false More false than true False 7 Please make any comments about the results of this collaboration. [Open-ended response] 8 What changes would improve the effectiveness of this collaborative effort? [Open-ended response] 112

49 1. Respondent Information Table 1.1 Respondents by RC Table 1.2: Survey Respondents 113

50 114

51 2. Context of the Collaboration Question 2.1. The timing is right to address the Newborn Screening and Genetic issues about which we are collaborating. Question 2.2 The collaborative is responding to the critical issues that currently face genetics and newborn screening. 115

52 Combined Data Statistics The timing is right to address the Newborn Screening and Genetic issues about which we are collaborating. The collaborative is responding to the critical issues that currently face genetics and newborn screening. N Mean

53 117

54 3. The structure of the Collaboration 3.1 Our collaboration has access to information and uses it to support problem solving and decision-making. 3.2 Our group has access to the expertise necessary for effective meetings. 118

55 3.3 We have adequate physical facilities to support the collaborative efforts of the group and its sub-committees. 3.4 We have adequate staff assistance to plan and administer the collaborative effort. 119

56 3.5 The membership of our group includes those stakeholders affected by the issue. 3.6 Our membership is not dominated by any one group or sector. 120

57 3.7 Stakeholders have agreed to work together on this issue. 3.8 Stakeholders have agreed on what decisions will be made by the group. 121

58 3.9 Our group has set ground rules and norms about how we will work together We have a method for communicating the activities and decisions of the group to all members. 122

59 3.11 Our collaborative is organized in working sub-groups when necessary to attend to key performance areas There are clearly defined roles for group members. 123

60 Combined Data: The structure of the Collaboration N Mean Our group has access to the expertise necessary for effective meetings We have adequate physical facilities to support the collaborative efforts of the group and its sub-committees We have adequate staff assistance to plan and administer the collaborative effort The membership of our group includes those stakeholders affected by the issue Our membership is not dominated by any one group or sector Stakeholders have agreed to work together on this issue Stakeholders have agreed on what decisions will be made by the group Our group has set ground rules and norms about how we will work together We have a method for communicating the activities and decisions of the group to all members Our collaboration is organized in working sub-groups when necessary to attend to key performance areas There are clearly defined roles for group members = True 2 = More True than False 3 = More False than True 4 = False 124

61 4. Collaboration Members 4.1 Members are more interested in getting a good group decision than improving the position of their home organization. 4.2 Members are willing to let go of an idea for one that appears to have more merit. 125

62 4.3 Members have the communication skills necessary to help the group progress. 4.4 Members of the collaboration balance task and social needs so that the group can work comfortably and productively. 126

63 4.5 Members are effective liaisons between their home organizations and the group. 4.6 Members are willing to devote whatever effort is necessary to achieve the goals. 127

64 4.7 Members monitor the effectiveness of the process. 4.8 Members sufficiently trust each other to honestly and accurately share information, perceptions and feedback. 128

65 Collaboration Members N Mean Members are more interested in getting a good group decision than improving the position of their home organization. Members are willing to let go of an idea for one that appears to have more merit. Members have the communication skills necessary to help the group progress. Members of the collaboration balance task and social needs so that the group can work comfortably and productively. Members are effective liaisons between their home organizations and the group. Members are willing to devote whatever effort is necessary to achieve the goals. Members monitor the effectiveness of the process Members sufficiently trust each other to honestly and accurately share information, perceptions and feedback. 1 = True 2 = More True than False 3 = More False than True 4 = False 129

66 5. The Collaboration Process 5.1 We frequently discuss how we are working together. 5.2 Divergent opinions are expressed and listened to. 130

67 5.3 The process we are engaged in is likely to have a real impact on the problem. 5.4 We have an effective decision-making process. 131

68 5.5 The openness and credibility of the process help members set aside doubts or skepticism. 5.6 There are strong, recognized leaders who support this collaborative effort. 132

69 5.7 Those who are in positions of power or authority are willing to go along with our decisions or recommendations. 5.8 We set aside vested interests to achieve our common goal. 133

70 5.9 We have a strong concern for preserving a credible, open process We are inspired to be action-oriented. 134

71 5.11 We celebrate our group s successes as we move forward achieving the final goal. The Collaboration Process N Mean We frequently discuss how we are working together Divergent opinions are expressed and listened to The process we are engaged in is likely to have a real impact on the problem We have an effective decision making process The openness and credibility of the process help members set aside doubts or skepticism There are strong, recognized leaders who support this collaborative effort Those who are in positions of power or authority are willing to go along with our decisions or recommendations We set aside vested interests to achieve our common goal We have a strong concern for preserving a credible, open process We are inspired to be action-oriented We celebrate our group's successes as we move toward achieving the final goal = True 2 = More True than False 3 = More False than True 4 = False 135

72 6. The Results of the Collaboration 6.1 We have concrete measurable goals to judge the success of our collaboration. 6.2 We have identified interim goals to maintain the group s momentum. 136

73 6.3 There is an established method for monitoring performance and providing feedback on goal attainment. 6.4 Our group is effective in obtaining the resources it needs to accomplish its objectives. 137

74 6.5 Our group is willing to confront and resolve performance issues. 6.6 The time and effort of the collaboration is directed at obtaining the goals rather than keeping itself in business. 138

75 The Results of the Collaboration We have concrete measurable goals to judge the success of our collaboration We have identified interim goals to maintain the group's momentum There is an established method for monitoring performance and providing feedback on goal attainment Our group is effective in obtaining the resources it needs to accomplish its objectives Our group is willing to confront and resolve performance issues The time and effort of the collaboration is directed at obtaining the goals rather than keeping itself in business N Mean 1 = True 2 = More True than False 3 = More False than True 4 = False 139

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77 Appendix J. PM 41 Aggregate Data 141

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79 41 PERFORMANCE MEASURE Goal 3: Ensure Quality of Care (Develop and promote health services and systems designed to improve quality of care) Level: National Category: Medical Home GOAL The degree to which grantees have assisted in developing, supporting, and promoting medical homes for MCH populations. To increase the prevalence of medical homes within the systems that serve MCH populations. MEASURE The degree to which grantees have assisted in developing and supporting systems of care for MCH populations that promote the medical home. DEFINITION Attached is a set of five categories with a total of 24 elements that contribute to a family/patientcentered, accessible, comprehensive, continuous, and compassionate system of care for MCH populations. Please use the space provided for notes to describe activities related to each element and clarify reasons for score. HEALTHY PEOPLE 2010 OBJECTIVE Related to Objective (Developmental): Increase the proportion of CSCHN who have access to a medical home. DATA SOURCE(S) AND ISSUES Attached is a data collection form to be completed by grantees. The data collection form presents a range of activities that contribute to the development of medical homes for MCH populations. SIGNIFICANCE Providing primary care to children in a medical home is the standard of practice. Research indicates that children with a stable and continuous source of health care are more likely to receive appropriate preventive care and immunizations, less likely to be hospitalized for preventable conditions, and more likely to be diagnosed early for chronic or disabling conditions. Data collected for this measure would help to ensure that children have access to a medical home and help to document the performance of several programs, including EPSDT, immunization, and IDEA in reaching that goal. 143

80 DATA COLLECTION FORM FOR DETAIL SHEET #41 Using the scale below, indicate the degree to which your grant has assisted in the development and implementation of medical homes for MCH populations. Please use the space below to indicate the year the score is reported for and clarify reasons for the score. Indicate population: pregnant and postpartum women, infants, children, children with special health care needs, adolescents (While this is a single performance measure, for analytic purposes each of the categories will be scored as an independent measure. Grantees may identify specific categories as not applicable to their grant program by selecting a score of 0 for every item within the category.) Element Category A: Establishing and Supporting Medical Home Practice Sites 0 (5 RCs) 1 (1 RC) 2 (1 RC) 1. The grantee has conducted needs and capacity assessments to assess the adequacy of the supply of medical homes in their community, state, or region. 0 (5 RCs) 1 (1 RC) 2 (1 RC) 2. The grantee has recruited health care providers to become the medical homes. 0 (6 RCs) 3 (1 RC) 3. The grantee has developed or adapted training curricula for primary care providers in the medical home concept. 0 (5 RCs) 1 (1 RC) 3 (1 RC) 4. The grantee has provided training to health care providers in the definition and implementation of the medical home and evaluated its effectiveness. 0 (5 RCs) 1 (1 RC) 3 (1 RC) 5. The grantee has assisted practice sites in implementing health information technologies in support of the medical home. 0 (4 RCs) 1 (3 RCs) 6. The grantee has developed/implemented tools for the monitoring and improvement of quality within medical homes. 0 (6 RCs) 1 (1 RC) 7. The grantee has disseminated validated tools such as the Medical Home Index to practice sites and trained providers in their use. 0 (4 RCs) 1 (2 RCs) 3 (1 RC) 8. The grantee has developed/implemented quality improvement activities to support medical home implementation. Category A Subtotal (possible 0-24): Range: 0-9 Mean:

81 Element Category B: Developing and Disseminating Information and Policy Development Tools: The grantee has developed tools for the implementation of the medical home and promoted the medical home through policy development 0 (6 RCs) 3 (1 RC) 9. Referral resource guides 0 (5 RCs) 1 (1 RC) 3 (1 RC) 10. Coordination protocols 0 (5 RCs) 3 (1 RC) 11. Screening tools 0 (3 RCs) 1 (2 RCs) 2 (1 RC) 3 (1 RC) 12. Web sites 0 (4 RCs) 1 (1 RC) 2 (1 RC) 3 (1 RC) 13. The grantee has developed and promoted policies, including those concerning data-sharing, on the State or local level to support the medical home 0 (4 (RCs) 2 (2 RCs) 3 (1 RC) 14. The grantee has provided information to policymakers in issues related to the medical home Category B Subtotal (possible 0-18): Range:0-18 Mean: 4.3 Category C: Public Education and Information Sharing: The grantee has implemented activities to inform the public about the medical home and its features and benefits 0 (2 RCs) 1 (2 RCs) 2 (1 RC) 3 (2 RCs) 15. The grantee has developed Web sites and/or other mechanisms to disseminate medical home information to the public. 0 (7 RCs) 16. The grantee has provided social service agencies, families and other appropriate community-based organizations with lists of medical home sites. 0 (4 RCs) 1 (1 RC) 2 (1 RC) 3 (1 RC) 17. The grantee has engaged in public education campaigns about the medical home. Category C Subtotal (possible 0-9): Range: 0-6 Mean:

82 Element Category D: Partnership-Building Activities 0 (4 RCs) 2 (1 RC) 3 (2 RCs) 18. The grantee has established a multidisciplinary advisory group, including families and consumers representative of the populations served, to oversee medical home activities 0 (2 RCs) 1 (2 RCs) 3 (3 RCs) 19. The grantee has coordinated and/or facilitated communication among stakeholders serving MCH populations (e.g., WIC, domestic violence shelters, local public health departments, rape crisis centers, and ethnic/culturally-based community health organizations) 0 (6 RCs) 3 (1 RC) 20. The grantee has worked with the State Medicaid agency and other public and private sector purchasers on financing of the medical home. 0 (5 RCs) 1 (2 RCs) 21. The grantee has worked with health care providers and social service agencies to implement integrated data systems. Category D Subtotal (possible 0-12): Range: 0-7 Mean: 3.4 Category E: Mentoring Other States and Communities 0 (2 RCs) 1 (2 RCs) 2 (1 RC) 3 (2 RCs) 22. The degree to which the grantee has shared medical home tools with other communities and States. 0 (3 RCs) 1 (1 RC) 2 (1 RC) 3 (2 RCs) 23. The degree to which the grantee has presented its experience establishing and supporting medical homes to officials of other communities, family champions, and/or States at national meetings 0 (4 RCs) 2 (1 RC) 3 (2 RCs) 24. The degree to which the grantee has provided direct consultation to other States on policy or program development for medical home initiatives Category E Subtotal (possible 0-9): 0 = Not Met 1 = Partially Met 2 = Mostly Met 3 = Completely Met Range: 0-9 Mean:

83 Total the numbers in the boxes (possible 0-72 score): Range: 0-45 Mean: 17.6 NOTES/COMMENTS: NYMAC Note: NYMAC has not seen its mandate to include (A) Establishing and Supporting Medical Home Practice Sites though we have incorporated medical home concepts into transition and distance strategy efforts, (B) Developing tools for the implementation of the medical home and promoted the medical home through policy development, or (E) Mentoring Other States and Communities about implementation of Medical Home Activities, though we do share tools that might be related to Medical Home on the website. Categories C: The grantee has implemented activities to inform the public about the medical home and its features and benefits and D: Partnership-Building Activities around Medical Home are objectives for this cycle, though not yet implemented. Heartland Note: The grantee established an ad hoc Medical Home Work Group comprised of stakeholders to address the role of the medical geneticist in the medical home. That white paper is in progress. Two planned activities are: qualitative data collection from families regarding their perception, understanding, and utilization of the medical home; and assessing medical home activities and resources in all of our states. The Heartland program manager serves as a mentor for the AAP s Genetics in Primary Care Institute project. Finally, Heartland (the grantee) has several large projects (Individualized Health Plan, Healthcare Transition, Hispanic access) that overlap with aspects of the Medical Home. WSGSC Note: The goal of the Western States Genetic Services Collaborative is to facilitate a regional approach to specialty genetic services (both clinical and public health services), including newborn screening, in order to improve access to genetic services, quality of genetic services, reimbursement for genetic services and to translate and disseminate information about genetic/genomic services and newborn screening for families and providers. Thus, the regional genetics Collaboratives may participate in activities related to medical home in the sense that families and specialty providers are all contributors to and part of a medical home, yet the main purpose of the Collaboratives is not to address all aspects of the medical home, as that arena is more appropriately addressed by primary care provider entities and families. Nonetheless, the regional genetics Collaboratives may plan and participate in activities related to medical home in that genetic specialty services may be one part of the medical home. 147

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85 Appendix K. NGECN Survey Instrument & Survey Data 149

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87 Survey on Access to Care for Individuals with Genetic Conditions This survey is designed to answer questions about how individuals currently living with genetic conditions access health care. Your answers will be helpful in providing a snapshot of health care experiences of individuals with genetic conditions and their families. All of your responses to this survey will remain confidential. Part I. Survey Eligibility 1. Has a doctor or other health care provider ever told you that you (or your child) has a genetic condition? Yes No If you answered No to Question #1 above and/or if the child is no longer living, please leave the remainder of the survey questions blank. If you answered Yes to Question #1, please proceed to the remainder of the questions. Part II. Status/Demographics 2. What is your status? Individual with a genetic condition Parent of one or more individuals with a genetic condition** **If both you and your child have genetic conditions or if you are a parent of more than one individual with a genetic condition, please refer to the oldest individual with a genetic condition when answering the following survey questions. 3. Demographics: a. What is your state of residence? b. What is the affected individual s birth year? c. What genetic conditions have been identified? (Please select all that apply.) Metabolic: e.g. phenylketonuria (PKU), galactosemia Immunologic: e.g. severe combined immunodeficiency (SCID) Pulmonary: e.g. cystic fibrosis Endocrinopathies: e.g. congenital hypothyroidism and congenital adrenal hyperplasia Hemoglobin Disorders : e.g. sickle cell disease, thalassemia Congenital heart defects: e.g. atrial septal defect (ASD), aortic stenosis Genetic condition associated with other conditions (Syndrome), such as having chromosomal abnormality, or both deafness and heart defects Hearing Loss Undefined genetic condition Other, please specify Don t know d. When were you (or your child) first identified as having a genetic condition? e. Was the genetic condition identified through newborn screening? 151

88 4. Insurance Status: a. Does your health insurance offer benefits or cover services that meet your (or your child s) needs? Would you say Never Sometimes Usually Always Don t know b. During the past 12 months, was there any time when you (or your child) were not covered by ANY health insurance? Yes No Don t Know Part III. Genetic Services 5. During the past 12 months, was there any time when you or other family members needed genetic counseling for advice about inherited conditions related to your (or your child s) medical, behavioral, or other health conditions? Yes No Don t know 5a. Did you or your family receive all the genetic counseling that was needed? Yes No Don t know 5b. Why did you or your family not get all the genetic counseling that was needed? (Check all that apply) Cost was too much No insurance Health plan problem Can t find doctor who accepts our insurance Not available in area/transportation problems Not convenient times Could not get an appointment 152

89 Doctor did not know how to treat or provide care Dissatisfaction with doctor Did not know where to go for treatment Child refused to go Treatment is ongoing No referral Lack of resources at school Did not go to appointment Other, please specify Don t know 6. Has a doctor or other health care provider ever discussed the family health history related to your (or your child s) genetic condition? Yes No Don t know 7. Which, if any, of the following have you interacted with in the past 12 months? (Please select all that apply.) New England Genetics Collaborative (NEGC) New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC) Southeast Regional Newborn Screening and Genetics Regional Collaborative (SERC) Region 4 Genetics Collaborative Heartland Regional Genetics and Newborn Screening Collaborative Mountain States Genetics Regional Collaborative (MSGRC) Western States Genetic Services Collaborative (WSGSC) National Coordinating Center for the Regional Genetic and Newborn Screening Service Collaboratives (NCC) None Don t know 153

90 Part IV. Medical Home Please answer the following questions on behalf of yourself and your health care experience as an affected individual or on behalf of your child s experience with health care as an affected individual. 8. A personal doctor or nurse is a health professional who knows you or your child well and is familiar with your (or your child s) health history. This can be a general doctor, a pediatrician, a specialist doctor, a nurse practitioner, or a physician s assistant. Do you have one or more persons you think of as your (or your child s) personal doctor or nurse? Yes, one person Yes more than one person No 8a.What kind of health professional is/are the people you think of as your child s personal doctor or nurse? (Please check all that apply) General doctors Pediatricians Genetic specialists Other specialists Nurse practitioners Physician assistant Mother/friend/relative Other (please specify:) 9. During the past 12 months, did you have any difficulties or delays because there were waiting lists, backlogs, or other problems getting appointments? Yes No Don t know 10. During the past 12 months, how often did you get as much help as you wanted with arranging or coordinating your (or your child s) care? Never Sometimes Usually Always Don t know 154

91 11. Does anyone help you arrange or coordinate your (or your child s) care among the different doctors or services that you (or your child) uses? Yes No Don t know 12. Were you (or your child) ever referred to a support and/or advocacy group by a health care provider? Yes No Don t know 13. How often do you (or your child) get the social and emotional support you (he/she) need from a health care provider or support/advocacy group? Never Rarely Sometimes Usually Always Don t know 14. Overall, are you very satisfied, somewhat satisfied, somewhat dissatisfied, or very dissatisfied with the communication among your (or your child s) doctors and other health care providers? Very satisfied Somewhat satisfied Somewhat dissatisfied Very dissatisfied No communication needed or wanted Don t know 15. During the past 12 months, how often did your (or your child s) doctors and other health care providers listen carefully to you? Never Sometimes Usually Always Don t know 155

92 16. During the past 12 months, how often did your (or your child s) doctors or other health care providers help you feel like a partner in your (his/her) care? Never Sometimes Usually Always Don t know Part V. Transition Services The following questions ask about experiences with health care for children over 11 years old who currently are in the process or have recently transitioned from pediatric to adult systems of care. If you are or your child is 11 years of age or older, please continue to answer survey questions If your child is younger than 11 years old, please leave questions blank. If the condition is an adult onset condition, please leave questions blank. 17. Do any of your (his/her) doctors or other health care providers treat only children? Yes No Don t know 18. Have they talked with you (or your child) about having you (or him/her) eventually see doctors or other health care providers who treat adults? Yes No Don t know 19. Have your (his/her) doctors or other health care providers talked with you (or him/her) about your (or his/her) health care needs as you (or he/she) become(s) an adult? Yes No Don t know Thank you for your time in completing this survey. We very much value your responses. 156

93 Part VI. Optional Follow-up The information you have provided will help provide an initial snapshot of how individuals with genetic conditions are currently accessing health care. As health care systems change and new programs are implemented, it would be helpful to know if and how your access to care is impacted. Would you agree to be contacted 2 years from now (Spring 2015) as a follow-up to these questions to see if your (or your child s) access to care has changed in any way? Your contact information will not be shared or used in any other way than for follow-up regarding this particular survey. Yes, I agree to be contacted. Name: Address: Additional Comments: No, I do not want to be contacted. 157

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95 Survey on Access to Care for Individuals with Genetic Conditions All Responses Report Part I. Survey Eligibility 1. Has a doctor or other health care provider ever told you that you (or your child) has a genetic condition? Category Yes Responses* 1895 *This column includes data from all respondents from the regions including those respondents that did not indicate their state of residence. The data has been restricted to respondents in the United States only. 219 respondents did not identify their state of residence (q.3a), and therefore were not included in the region breakdown. Part II. Status/Demographics 2. What is your status? Category Responses Individual with a genetic condition 882 (53.1) Parent of one or more individuals with a genetic condition** 779 (46.9) Total (n) 1661 (100.0) Total Missing 234 (12.3) 3a. What is your region? Category Responses New England 108 (6.4) 350 Mid-Atlantic (20.9) Southeast 279 (16.6) Region4 331 (19.7) Heartland

96 (5.5) Mountain States 236 (14.1) Western 280 (16.7) Total (n) 1676 (100.0) Missing 219 (11.6) 3c. What genetic conditions have been identified? (Please select all that apply.) Category Metabolic Immunologic Pulmonary Endocrinopathies Hemoglobin Disorders Congenital heart defects Genetic condition associated with other conditions Hearing Loss Undefined genetic condition Other, please specify Responses 228 (12.0) 50 (2.6) 23 (1.2) 181 (9.6) 27 (4.7) 102 (5.4) 546 (28.8) 42 (2.2) 49 (2.6) 570 (30.1) 2 160

97 Don t know Total (n) n=1895, as respondents can select all that apply 41 (2.2) d. When were you (or your child) first identified as having a genetic condition? Category Responses In Utero 24 (2.0) Baby: 0-1 years old Children: 2-10 years old Adolescents: years old Adult Older Adult 65+ Total (n) 279 (23.8) 190 (16.2) 128 (10.9) 531 (45.3) 20 (1.7) 1172 (100.0) Missing 723 (38.2) 3e. Was the genetic condition identified through newborn screening? Category Responses Yes 177 (10.6) No 1491 (89.4) Total (n) 1668 (100.0) Missing 227 (12.0) 3 161

98 4a. Does your health insurance offer benefits or cover services that meet your (or your child s) needs? Would you say Category Responses Never 53 (3.2) Sometimes 353 (21.2) Usually 737 (44.2) Always 465 (27.9) Don t know 59 (3.5) Total (n) 1667 (100.0) Missing 228 (12.0) 4b. During the past 12 months, was there any time when you (or your child) were not covered by ANY health insurance? Category Responses Yes 229 (13.7) No Don't know 1399 (84.0) 38 (2.3) Total 1666 (n) (100.0) Missing 229 (12.1) 4 162

99 Part III. Genetic Services 5. During the past 12 months, was there any time when you or other family members needed genetic counseling for advice about inherited conditions related to your (or your child s) medical, behavioral, or other health conditions? Category Responses Yes 571 (35.1) No 1012 (62.1) Don t Know 46 (2.8) Total (n) 1629 (100.0) Missing 266 (14.0) 5a. Did you or your family receive all the genetic counseling that was needed? Yes No Don t Know Total (n) Responses 296 (52.1) 246 (43.3) 26 (4.6) 568 (100.00) Missing 3 (.5) 5 163

100 5b. Why did you or your family not get all the genetic counseling that was needed? (Check all that apply) Cost was too much No insurance Health plan problem Can t find doctor who accepts our insurance Not available in area/transportation problems Not convenient times Could not get an appointment Doctor did not know how to treat or provide care Dissatisfaction with doctor Did not know where to go for treatment Child refused to go Treatment is ongoing No referral Lack of resources at school Responses 108 (18.9) 36 (6.3) 47 (8.2) 15 (2.6) 49 (8.6) 6 (1.1) 10 (1.8) 86 (15.1) 34 (6.0) 53 (9.3) 6 (1.1) 64 (11.2) 28 (4.9) 6 (1.1) 6 164

101 Did not go to appointment Other, please specify Don t know Total (n) 1 (.18) 57 (10.0) 6 (1.1) 571 (100.0) 6. Has a doctor or other health care provider ever discussed the family health history related to your (or your child s) genetic condition? Yes No Don't know Total (n) Responses 1275 (79.2) 301 (18.7) 34 (2.1) 1610 (100.0) Missing 285 (15.0) 7. Which, if any, of the following have you interacted with in the past 12 months? (Please select all that apply.) NEGC NYMAC SERC Responses 7 (.44) 3 (.18) 4 (.25) 7 165

102 Region 4 Heartland MSGRC WSGSC NCC None Don t know Total (n) 6 (?) (.38) 1 (.06) 2 (.13) 2 (.13) 5 (.32) 1416 (89.6) 134 (8.5) 1580 (100.0) Part IV. Medical Home 8. A personal doctor or nurse is a health professional who knows you or your child well and is familiar with your (or your child s) health history. This can be a general doctor, a pediatrician, a specialist doctor, a nurse practitioner, or a physician s assistant. Do you have one or more persons you think of as your (or your child s) personal doctor or nurse? Yes, one person Yes more than one person No Total (n) Responses 493 (32.1) 953 (62.0) 92 (6.0) 1538 (100.0) Missing 357 (18.8) 8 166

103 8a. What kind of health professional is/are the people you think of as your child s personal doctor or nurse? (Please check all that apply) General doctors Pediatricians Genetic specialists Other specialists Nurse practitioners Physician assistant Mother/friend/relative Other Total (n) Responses 622 (17.0) 488 (13.4) 697 (19.1) 750 (20.5) 592 (16.2) 83 (2.3) 123 (3.4) 300 (8.2) 3655 (100.0) 9. During the past 12 months, did you have any difficulties or delays because there were waiting lists, backlogs, or other problems getting appointments? Yes No Don't know Responses 421 (27.4) 1091 (70.9) 26 (1.7) 9 167

104 Total (n) 1538 (100.0) Missing 357 (18.8) 10. During the past 12 months, how often did you get as much help as you wanted with arranging or coordinating your (or your child s) care? Never Sometimes Usually Always Don t know Total (n) Responses 169 (11.1) 297 (19.5) 437 (28.7) 557 (36.6) 62 (4.1) 1522 (100.0) Missing 373 (19.7) 11. Does anyone help you arrange or coordinate your (or your child s) care among the different doctors or services that you (or your child) uses? Yes No Don't know Total (n) Responses 338 (22.2) 1164 (76.5) 20 (1.3) 1522 (100.0)

105 Missing 373 (19.7) 12. Were you (or your child) ever referred to a support and/or advocacy group by a health care provider? Yes No Don't know Total (n) Responses 462 (30.1) 1046 (68.2) 26 (1.7) 1534 (100.0) Missing 361 (19.1) 13. How often do you (or your child) get the social and emotional support you (he/she) need from a health care provider or support/advocacy group? Never Rarely Sometimes Usually Always Don t know Total (n) Responses 360 (23.6) 278 (18.2) 381 (25.0) 267 (17.5) 195 (12.8) 45 (2.9) 1526 (100.0)

106 Missing 369 (19.5) 14. Overall, are you very satisfied, somewhat satisfied, somewhat dissatisfied, or very dissatisfied with the communication among your (or your child s) doctors and other health care providers? Very satisfied Somewhat satisfied Somewhat dissatisfied Very dissatisfied No communication needed or wanted Don t know Responses 210 (34.4) 240 (39.3) 84 (13.8) 55 (9.0) 11 (1.8) 10 (1.6) Total (n)* 610 (100.0) Missing 147 (19.4) * Q14 was administered with an error and was corrected during survey collection to allow for complete responses. Only responses from individuals who were provided the corrected questions with the ability to provide a complete response (n=610) to the question are included. 15. During the past 12 months, how often did your (or your child s) doctors and other health care providers listen carefully to you? Never Responses 49 (3.2)

107 Sometimes 308 (20.2) Usually Always Don t know Total (n) 589 (38.6) 560 (36.7) 21 (1.4) 1527 (100.0) Missing 368 (19.4) 16. During the past 12 months, how often did your (or your child s) doctors or other health care providers help you feel like a partner in your (his/her) care? Responses Never Sometimes Usually Always Don t know Total (n) 98 (6.4) 350 (22.8) 518 (33.8) 548 (35.7) 20 (1.3) 1534 (100.0) Missing 361 (19.1)

108 Part V. Transition Services 17. Do any of your (his/her) doctors or other health care providers treat only children? For children ages years old, n=156 Yes No Don t know Total (n) Responses 113 (83.1) 15 (11.0) 8 (5.9) 136 (100.0) Missing 20 (12.8) 18. Have they talked with you (or your child) about having you (or him/her) eventually see doctors or other health care providers who treat adults? Responses Yes No Don t know 13 (9.6) 119 (88.1) 3 (2.2) Total (n) 135 (100.0) Missing 21 (13.5) 19. Have your (his/her) doctors or other health care providers talked with you (or him/her) about your (or his/her) health care needs as you (or he/she) become(s) an adult? Responses Yes No 25 (18.4) 106 (77.9)

109 Don t know Total (n) 5 (3.7) 136 (100.0) Missing 20 (12.8) Part VI. Optional Follow-Up Would you agree to be contacted 2 years from now (Spring 2015) as a follow-up to these questions to see if your (or your child s) access to care has changed in any way? Category Responses Yes, I agree to be contacted 1055 (73.9) No, I do not want to be contacted 372 (26.1) Total (n) 1427 (100.0) Missing 468 (24.7)

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111 Appendix L. ACMG Clinical Services Survey Instrument & Data 175

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113 As the point of contact for the American College of Medical Genetics and Genomics (ACMG) Clinical Database, I am writing to ask you to take a few minutes to answer 6 questions on communication and care coordination for people with genetic conditions and 6 questions on the Regional Genetic Collaboratives. Your responses will be valuable in assessing how genetics services are contributing to the Healthy People 2020 objectives. Your responses will be kept confidential and all data will be reported in the aggregate. The results may be used in reports, publications, and/or presentations. We will notify you when this information becomes publicly available on our website. This project will be successful only if you help us. We know that you are extremely busy, but please take 10 minutes to share your views. If at any time you have questions or concerns, you may the investigator, Alisha Keehn (akeehn@acmg.net) or speak with her by calling (301) Please go to Web Link to give us feedback. Thank you ahead of time for your participation in this research. Read across the four levels they are a progressive continuum. Please choose a level (1-4) that best describes the current policy and practice for people with genetic conditions. I. Communications with the family Level 1 Communication between the family and the provider occurs as a result of family inquiry; provider contacts with the family are for test result delivery or planned medical follow-up. Level 2 In addition to Level 1, standardized office communication methods are identified to the family by the practice (e.g. callin hours, phone triage for questions, or provider call back hours). Level 3 Practice and family communicate at agreed upon intervals and both agree on "best time and way to contact me"; individual needs prompt weekend or other special appointments. Level 4 In addition to Level 3, office activities encourage individual requests for flexible access; access and communication preferences are documented in the care plan and used by other practice staff (e.g. fax, or web messages, home, school or residential 177

114 Read across the four levels they are a progressive continuum. Please choose a level (1-4) that best describes the current policy and practice for people with genetic conditions. II. Communications with other providers Level 1 Communica tion among the primary care provider, specialists, therapists, and school happens as needs arise. Level 2 A provider makes requests and/or responds to requests from agencies or schools; all communication is documented. III. Care Coordination with Families Level 1 Level 2 The Families (and provider their older makes children) are medical regularly asked recommen what care dations and supports they defines need; treatment care decisions are coordinatio made jointly with n needs, the the provider. family carries these out Level 3 Systematic practice activities foster communication among the practice, family, and external providers such as schools, and other community professionals; these methods are documented and may include information exchange forms or ad hoc meetings with external providers. Level 3 In addition to Level 2, families (and older children) are given the option of centralizing care coordination activities at and in partnership with the practice. Level 4 In addition to Level 3, a method is used to convene the family and key professionals on behalf of children with more complex health concerns; specific issues are brought to this group and they all share and use a written plan of care. Level 4 In addition to Level 3, children & families contribute to a description of care coordination activities; a care coordinator specifically develops and implements this practice capacity which is evaluated by families and designated supervisors 178

115 Read across the four levels they are a progressive continuum. Please choose a level (1-4) that best describes the current policy and practice for people with genetic conditions. IV. Care Coordination Support Level 1 The family coordinates care without specific support; they integrate office recommen dations into their child's care. Level 2 The provider or a staff member engages in care support activities as needed; involvement with the family is variable. V. Care Coordination with Other Providers Level 1 Level 2 Referrals In addition to occur in Level 1, specialty response to referrals use specific phone, written diagnostic and/or electronic and communications; therapeutic the provider needs; waits for or relies families are upon the other the main specialists to initiators of communicate communica back their tion recommendation between s. specialists and their primary care provider (PCP). Level 3 Care coordination activities are based upon ongoing assessments of child and family needs; the practice partners with the family (and older children) to accomplish care coordination goals. Level 3 The provider and family set goals for referrals and communicate these to specialists; together they clarify co-management roles among family, primary care provider, and specialists and determine how feedback to the family is expressed, used, and shared. Level 4 Practice staff offer a set of care coordination activities their level of involvement fluctuates according to family needs/wishes. A designated care coordinator ensures the availability of these activities including written care plans with ongoing monitoring. Level 4 In addition to Level 3, the family has the option of using the practice in a strong coordinating role; parents as partners with the practice manage their child's care using other specialists for consultations and information. The specialist manages the majority of the care related to the genetic condition. 179

116 Read across the four levels they are a progressive continuum. Please choose a level (1-4) that best describes the current policy and practice for people with genetic conditions. VI. Transition Preparation Youth are seen without their family member for portions of the encounters after age 14, as their medical condition permits. In addition to Level 1, by at least age 14, all youth begin a process of knowing their own health and wellness, risk behaviors, allergies, personal and family health history, insurance coverage. Youth with chronic conditions also acquire knowledge about their condition and related medications, specialists, and emergency care needs according to their ability. In addition to Level 2, a practice transition checklist is used to assess a youth s knowledge of their own health needs; the team provides education and support the acquisition of youth s transition skills Transition preparation targets knowledge gaps and builds youth skills; youth teach back their grasp of each check list item. In addition to Level 3, families/youth work with staff and/or transition care coordinator to develop transition related skills and elevating levels of self determination. From age 14, they participate in the development of a portable medical summary. This summary travels with each youth as they age out of a pediatric model of care. Transition Preparation Source: Other items adopted from the Medical Home Index. Source: What State or Territory are you located in? Do you know or have you heard of the National Coordinating Center for the Regional Genetics and Newborn Screening Collaboratives? Yes No Don t Know 180

117 In the past year, have you interacted with any of the Regional Genetics Collaboratives? Yes No D on t Know If yes, please name that Collaborative (s) If yes, please indicate what types of interactions you had in the past year with the Regional Genetics Collaborative: Provider training and education Resources for families Participated in the annual meeting Served in an advisory capacity Other, please specify YES NO What has been the most important achievement of the Regional Genetic Collaborative in your area in the past 12 months? Please state only one. Please indicate your level of interest in future RC activities Connecting with the Regional Genetic collaboratives to address common areas of need Webinars with experts on topics related to genetics Didactic sessions on genetics-related topics Genetics case studies Competencies for trainees related to Very Definitely Most Definitely Definitely Not at All 181

118 genetics Access to an interdisciplinary genetics conference using distance technology Resources/information on uses of new genetic testing Ethical/legal/social implications of genetic testing Report on geneticsrelated activities Resources for families with children with genetic conditions Thank you for your time in answering these questions. We very much value your input. 182

119 Read across the four levels they are a progressive continuum. Please choose a level (1-4) that best describes the current policy and practice for people with genetic conditions. I. Communications with the family 183

120 II. Communications with other providers 184

121 III. Care Coordination with Families 185

122 IV. Care Coordination Support 186

123 V. Care Coordination with Other Providers 187

124 VI. Transition Preparation 188

125 What State or Territory are you located in? 189

126 Do you know or have you heard of the National Coordinating Center for the Regional Genetics and Newborn Screening Collaboratives? Do you know of have you heard of the seven HRSA Regional Genetic Service Collaboratives? 190

127 In the past year, have you interacted with any of the Regional Genetics Collaboratives? If yes, please name that Collaborative (s) 191

128 If yes, please indicate what types of interactions you had in the past year with the Regional Genetics Collaborative: YES NO Provider training and education 11 (52%) 10 (47.6%) Resources for families 15 (71.4%) 6 (28.6%) Participated in the annual meeting 9 (45%) 11 (55%) Served in an advisory capacity 14 (66.7%) 7 (33.3%) Other, please specify 5 Chair Workgroup (1) ing member (1) Monitored activities, faculty members directly participating (1) QI project (1) Received grant for telemedicine (1) 192