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Bringing Your Voice to the Table

Maximizing the Individual and Family Perspective

in the Regional Genetics Collaboratives

Created by the Consumer Advisory Group of the National Genetics Education and Consumer Network

This guide was created in the Fall of 2014 as an activity of the National Genetics Education and Consumer Network (NGECN). NGECN is a three-year initiative funded by the Health Resources and Services Administration through Cooperative Agreement #U22MC04100 with the American College of Medical Genetics and Genomics (ACMG).

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Table of Contents I. BACKGROUND 3 WHAT ARE THE REGIONAL GENETICS COLLABORATIVES? 3 WHAT DOES THE NATIONAL COORDINATING CENTER DO? 3 WHAT IS THE NATIONAL GENETICS EDUCATION AND CONSUMER NETWORK? 4 WHO ARE THE OTHER RELEVANT NATIONAL PARTNERS? 5 NEWBORN SCREENING TECHNICAL ASSISTANCE AND EVALUATION PROGRAM (NEWSTEPS) 5 NEWBORN SCREENING TRANSLATIONAL RESEARCH NETWORK (NBSTRN) 5 BABY’S FIRST TEST 6 LEADERSHIP EDUCATION IN NEURODEVELOPMENTAL AND RELATED DISABILITIES (LEND) PROGRAMS 6 PARENT TO PARENT 6 FAMILY VOICES 6 HOW DO THE PROGRAMS WORK TOGETHER? 7 II. ABOUT THE REGIONS 8 REGION 1: NEW ENGLAND GENETICS COLLABORATIVE (NEGC) 8 REGION 2: NEW YORK MID-ATLANTIC CONSORTIUM FOR GENETICS AND NEWBORN SCREENING

SERVICES (NYMAC) 10 REGION 3: SOUTHEAST REGIONAL NBS AND GENETICS COLLABORATIVE 12 REGION 4: REGION 4 MIDWEST GENETICS COLLABORATIVE 13 REGION 5: HEARTLAND GENETICS AND NEWBORN SCREENING COLLABORATIVE 15 REGION 6: MOUNTAIN STATES REGIONAL GENETICS COLLABORATIVE (MSRGC) 18 REGION 7: WESTERN STATES GENETICS SERVICES COLLABORATIVE (WSGSC) 20 III: GLOSSARY OF TERMS 24 IV: RELEVANT ACRONYMS 25 V. OTHER RESOURCES 27

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I. Background

What are the Regional Genetics Collaboratives? Seeing a need for improved genetic services and access to those services, the Health Resources and Services Administration (HRSA) began funding regional programs in 2004. There are currently 7 Regional Genetics Collaboratives (RCs) and one National Coordinating Center that helps coordinate and support the efforts of the regional programs. More detailed information on the National Coordinating Center can be found in the next section of this guide. The RCs are grant-funded programs that are typically led by a Project Director, a Project Manager, and a few other supporting staff. The overall mission of the Regional Genetics Collaboratives is to strengthen and support the genetics and newborn screening capacity of the states, to improve the availability, accessibility, and quality of genetic services and resources for individuals having, or at risk for, genetic conditions and their families across the lifespan. The purpose of the regional structure is to bring together stakeholders that have an interest in improving genetic services (clinicians, public health professionals such as those from state newborn screening labs, individuals with or at risk for genetic conditions and their family members, researchers, etc.). The RCs work on identifying and addressing needs that will improve access to and the quality of those services. This can include developing programs or models around Medical Home, newborn screening laboratory and follow-up processes, the transition from pediatric to adult healthcare, and more. No single RC program is the same: the structure and activities of the RC are set up to address both national priorities, as well as, regional needs. Administrators at HRSA decide which national priorities the RC programs should address and include those in the grant applications. At the end of each grant cycle (the RCs are currently funded for 5 years, ending in May 2017), the RCs must demonstrate how they made an impact on the national priorities listed in their original grant guidance. The RCs are required to provide regular reports to their funders, documenting the effects their programs have had on access and health outcomes. The states that make up each region were decided based upon state birth rates, in an effort to somewhat equally divide the nation’s growing population. The regional structure allows each region to tailor their efforts to the particular needs of the geographical area. The needs of each region may be very different; for example, one area of the US may have a shortage of genetic service providers, whereas another region may have an abundance. Each RC typically has 1-2 in-person meetings per year. RCs typically have workgroups for each of their priority areas that meet on a semi-regular basis work on projects through conference calls throughout the year.

What does the National Coordinating Center do? The National Coordinating Center for the Regional Genetic Services Collaboratives (NCC) is also funded by the Genetic Services Branch of the Maternal and Child Health Bureau, Health Resources and Services Administration (HRSA), but through a different mechanism than the

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RCs, called a cooperative agreement. NCC’s role is to coordinate the efforts of the RCs and facilitate sharing of best practices across the regions. The NCC is led by the American College of Medical Genetics and Genomics (ACMG). The NCC is organized around a central office and an Advisory Committee. The Advisory Committee includes the seven RCs and representatives of national organizations that serve as resources to the NCC and the RCs. The NCC also coordinates several national-level workgroups made up of representatives from each RC. The workgroups include: Telegenetics, Family History, Affordable Care Act Implementation, Newborn Screening Long Term Follow Up, Medical Home, and Transition. The NCC also hosts monthly calls with all of the Project Directors and Project Managers from all 7 RCs and a monthly Evaluation Workgroup call to coordinate the evaluation efforts of the RCs. You can find more about the NCC and the RCs at http://www.nccrcg.org/. One of the activities of the NCC Cooperative Agreement is to create a National Genetics Education and Consumer Network (NGECN). Genetic Alliance leads the NGECN through a sub-award. More information on the NGECN is included in the next section.

What is the National Genetics Education and Consumer Network? The National Genetics Education and Consumer Network (NGECN) is a three-year initiative (June 2012- May 2015) led by an organization called Genetic Alliance. The focus of NGECN is to build a network of partners and develop accessible tools to improve access to and the quality of genetic services. NGECN focuses on two different project areas: consumer engagement and public education. Consumer Engagement: NGECN aims to support meaningful participation of individuals with genetic conditions and their families (we use the term consumers) in both the Regional Genetics Collaboratives and in other programs focused on genetics, health, and encouraging patient-centered outcomes. All 7 regions have active participation from consumers, either in the form of a dedicated workgroup or as individual advocates that participate on RC workgroups. NGECN hosts webinars and creates materials on topics of interest to the regions to support recruitment, engagement, and participation of consumers. NGECN has a Program Manager and a Program Director who both work closely with the staff of NCC and the RCs. The Program Manager attends all of the monthly NCC/RC workgroup calls and works in various ways with the RC family workgroups. NGECN has a Consumer Advisory Group made up of at least one representative from each RC that either has a genetic condition or is a family member of a person with a genetic condition. Gaining perspective from individuals who have experienced getting a genetic diagnosis and/or using genetic services can help ensure RC/NCC/NGECN efforts address the gaps and barriers around accessing genetic services and support. Consumer engagement looks different in each of the 7 regions but there is a strong commitment by all to ensuring meaningful participation and contribution from consumers. NGECN helps unite the efforts around consumer engagement across the 7 regions through quarterly conference calls and one in-person meeting per year. The Program Manager also attends each RC Annual Meeting and gives updates on the project as well as hears from the consumers about their experiences accessing genetic services.

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Public Education: With the help of the NGECN Consumer Advisory Group, NGECN aims to produce resources, trainings, and tools that address the needs of consumers. Every tool or resource that NGECN creates is reviewed by the Consumer Advisory Group to ensure its design, function, and content are both accessible and beneficial to families. Some past resources developed include the Advocacy ATLAS http://www.geneticalliance.org/advocacy-atlas with resources for individuals and families to advocate in 10 different areas for themselves or their child with special healthcare needs. Other resources including GenesinLife.org and DiseaseInfoSearch.org provide information on genetics and health, genetic services, and ways to find support for individuals and families. More information about NGECN activities can be found on the NCC website at www.nccrcg.org. Who are the other relevant national partners? Collaboration with partners is very important to the NCC/RC System. There are several national programs with similar missions and/or similar goals for improving access to genetic services. You may see staff from these national partners present at or participate in your region’s annual meeting. Many of them also participate and give updates on the monthly NCC workgroup calls so that the regions can know if they are doing similar or related work that they could work together on. The goal of these partnerships is to leverage the funding of all of the programs so that there is no overlap or “recreating of the wheel”, if another project has done the same or similar projects. Newborn Screening Technical assistance and Evaluation Program (NewSTEPs) NewSTEPs is a national newborn screening program designed to provide data, technical assistance, and training to newborn screening programs across the country and to assist states with quality improvement initiatives. The programs provides resources for state laboratories and newborn screening programs including a data repository, interactive website, technical assistance, education and training, policy guidance and program evaluation. The program is led by an organization called the Association of Public Health Laboratories (APHL) and is also funded by the Health Resources and Services Administration. Newborn Screening Translational Research Network (NBSTRN) NBSTRN is a resource for researchers engaged in newborn screening related research. The goal of the NBSTRN is to facilitate research to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that provides the research community access to robust newborn screening resources. NBSTRN provides links to patient registries and newborn screening related information, a Virtual Repository of Dried Blood Spots, and other information such as guidance around some of the ethical and legal issues related to NBS screening. The project is led by the American College of Medical Genetics and Genomics and is funded by a grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) of the National Institutes of Health (NIH).

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Baby’s First Test BabysFirstTest.org serves as the nation's newborn screening clearinghouse, providing current educational and family support and services information, materials, and resources about newborn screening at the local, state, and national levels. This resource is dedicated to educating parents, family members, health professionals, industry representatives, and other members of the public about the newborn screening system. This site also provides many ways for people to connect and share their viewpoints and questions about the newborn screening system. Baby’s First Test is led by an organization called Genetic Alliance and is funded by a cooperative agreement with the Genetic Services Branch of the Maternal and Child Health Bureau of the Health Resources and Services Administration (HRSA). Leadership Education in Neurodevelopmental and Related Disabilities (LEND) Programs LEND programs are graduate level interdisciplinary training programs with the goal improving the health of infants, children, and adolescents with disabilities. They focus on training students from diverse professional disciplines to assume leadership roles in their respective fields. There are currently 43 LENDs in 37 states. LEND programs operate within a university system, usually as part of a University Center for Excellence (UCEDD) or other larger entity, and collaborate with local university hospitals and/or health care centers. They work together to address national issues of importance to children with special health care needs and their families, exchange best practices and develop shared products. They are also funded by the Maternal and Child Bureau of the Health Resources and Services Administration. Parent to Parent Parent to Parent USA (P2PUSA) is a national non-profit organization committed to promoting access, quality and leadership in parent to parent support across the country. Parent to Parent USA serves as the national representative for Parent to Parent programs that exist across the US. Parent to Parent programs provide a parent-matching service where parents are connected with other parents for emotional support and help finding information and resources. Parents looking for support can find the Parent to Parent program in their state on the P2P USA website. Family Voices Family Voices (FV) is a national, nonprofit, family-led organization promoting quality health care for all children and youth, particularly those with special health care needs. There are also state-based Family Voices programs that provide different services in each state. Family-to-Family Health Information Centers (F2F HICs) are family-staffed organizations that assist families of children and youth with special health care needs (CYSHCN) and the professionals who serve them. F2F HICs provide support, information, resources, and training around health issues. Parents looking for information and support related to health for their child can find the Family to Family Health Information Center in their state on the FV Website. The Maternal and Child Bureau of the Health Resources and Services Administration (HRSA) provides the primary funding support for F2F HICs.

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How do the programs work together? While each of the RCs have developed different projects, the NCC and NGECN host calls and meetings across the regions to share lessons learned and see if what is being done in one region could be replicated in another. Oftentimes national partners (listed above) provide updates for the regions on any relevant work or opportunities to collaborate. Each region collaborates with local, state-based, and national partners in different ways. For example, most of the regions have representatives from the state Family-to-Family programs participate with their collaborative, bringing their valuable perspective and experiences from working with families in their states. The ultimate goal of the NCC/RC network is to show a national impact on access to genetic services and the quality of care received. See below for a map of the regions and the NCC and NGECN (which are both based out of Washington, DC).

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II. About the Regions Region 1: New England Genetics Collaborative (NEGC) States included in the region: Connecticut, Maine, Massachusetts, New Hampshire, Vermont, Rhode Island

About the Region NEGC is housed at the University of New Hampshire, University Center for Education on Disabilities. The core staff consists of a Principal Investigator (P.I., who also serves as a Co-Director), another co-director, Program Manager, and project evaluator. For more information about the staff members, visit http://negenetics.org/AboutUs/staff.aspx. In addition to the work groups, there are also committees, including an advisory committee that provides input and overall guidance for project activities. Members represent all 6 New England states. They bring with them diversity in perspectives that greatly enriches the work of the NEGC. The 23 members include physicians, geneticists, public health professionals, individuals with genetic conditions and their families. There is also a Collaborative Committee, which is comprised of chairpersons from of each of the work groups. The Co-Principal Investigators and the Project Evaluator are also members of the Council. Additionally, the Chairperson of the Advisory Committee is a member, providing a key link between the leadership bodies of the NEGC. The Council meets regularly to address issues, opportunities and challenges of the NEGC as they arise. Work groups: Education & Outreach Health Care Access & Financing, led by Meg Comeau of the Catalyst Center http://negenetics.org/Work-Groups/health-care-access-financing/HCAFactivities.aspx

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Medical Home http://negenetics.org/Work-Groups/medical/default.aspx Quality Improvement The methods are those developed by the Institute for Healthcare Improvement and the Dartmouth Clinical Microsystems. The work group is a regional, voluntary, multi-disciplinary group of clinicians with a passion for quality healthcare practices in the treatment of genetic conditions. http://negenetics.org/Work-Groups/quality-improvement/QIActivities.aspx Transition http://negenetics.org/Work-Groups/transition/TransitionActivities.aspx Supporting the Face Forward Project, a program of Next Step, to implement an annual conference and year round transition programming for young adults with rare genetic disorders. Health Care Access and Financing (HAF) http://negenetics.org/Work-Groups/health-care-access-financing/default.aspx Ways to get involved as a self or family advocate Family representatives serve on all of the individual workgroups. In 2010-2011 NEGC established an informal Advocacy Group pulling in family/advocates from the network as well as new people who had interest and time to discuss different ways of better incorporating advocate feedback into their work. In January 2010, NEGC did a stakeholder survey report that brought light to the issues facing families in the region, one of which was financial barriers to accessing care. NEGC established a formal Health Care Access and Financing (HAF) Work Group to address those needs. The group is primarily made up of family/advocates as well as others with an interest in what is and what is not working around the access and financing of health care for individuals living with genetic conditions. To get involved, contact Meg Comeau, Chair (mcomeau@bu.edu) or Karen Smith, NEGC Project Coordinator (Karen.Smith@unh.edu). There are several other opportunities for self and parent advocates to get involved in the New England region. Next Step is a youth-run group that works with the Regional Collaborative and tries to encourage local young adults to participate in the regional meeting. Each state has a Family Voices affiliate where parents can find information for navigating their child’s special healthcare needs and can volunteer to participate in efforts to help other families. New Hampshire has a thriving Youth Advisory Council called “NH Yeah” that is pretty active in advocacy efforts and being involved in different health awareness activities. http://yeah-councilnh.com/, https://www.facebook.com/pages/YEAH-Council/267404923281292

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Region 2: New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC) States included in the region: Delaware, District of Columbia, Maryland, New Jersey, New York State, Pennsylvania, Virginia, West Virginia

About the Region NYMAC’s Advisory Council (AC) includes 23 representatives from each state and district. The AC membership includes primary care physicians, geneticists, genetic counselors, individuals with genetic conditions and their families, advocates, allied health professionals, and public health professionals. In addition to five workgroups, NYMAC has three committees including executive, evaluation, and newborn screening follow-up and a consumer collaborative network (CCN). This organizational structure allows a meaningful and inclusive decision-making, communication, and evaluation processes with administrative and leadership support. The dedicated staff and a broad range of stakeholders strive to fulfill NYMAC’s mission of helping families with special health care needs. We invite you to join us in our efforts. NYMAC workgroups (includes parent/advocates): • Newborn Screening and Emergency Preparedness • Primary Care Linkages and Strategies (Chaired by a parent advocate) • Public Health • ACA and Systems Issues • Capacity and Communication (Chaired by an advocate) Contact us at NYMAC@wadsworth.org for more information about the workgroups. Ways to get involved as a self or family advocate Consumer Collaborative Network: NYMAC formally established the Consumer Collaborative Network (CCN) in January 2014. The CCN consists of 18 members (representing each state and district) with a broad range of consumer

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representation including parent advocates, individuals with genetic conditions, leaders of support groups, parents/family members, young adults, and Family Voices (FV)/Parent-2-Parent programs (P2P) directors. The CCN members represent consumer views in NYMAC workgroups. The CCN members meet annually at the NYMAC’s Advisory Council Meeting (next in March 3-5, 2015; Baltimore, MD). Selected activities in 2013-2014 include: • Genetics Workshop at Sickle Association of New Jersey (SCANJ) • Educational article on sickle cell disease (inheritance pattern) for the SCANJ newsletter – “Say it

Loud” • NYMAC’s outreach and education at the Consortium of Care Coordination (COCC)/Statewide

Parents Association of New Jersey (SPAN-NJ) • Advocate Panel Discussion on Transition Care at Adult Care Provider conference • Advocate Leadership Program (NCC/ACMG supported program) at the ACMG annual meeting • “Consumer Column” articles in national newsletter NCC Collaborator by a self-advocate on sickle

cell disease and by a parent advocate on CCHD • LinkedIn discussion on special health care needs and public health genetics • Webinar on special health care needs For more information, contact Kunal Sanghavi, Genetic Counselor (ksangha1@jhmi.edu). NYMAC Summit (May 28-29, 2015; Baltimore, MD) The NYMAC summit will feature educational, interactive, and breakout sessions on issues related to special health care needs for patients/families, public health and providers/healthcare professionals. NYMAC Listserv: NYMAC sends important updates, funding/educational opportunities, and/or significant achievements via NYMAC News to all stakeholders. NYMAC Workgroups: The workgroups welcome new members and provides opportunities based on member’s interest and availability. The workgroups meet annually during the NYMAC AC meeting (next in March 3-5, 2015; Baltimore, MD). Linkedin discussion: https://www.linkedin.com/groups?home=&gid=5125072&trk=anet_ug_hm NYMAC’s Genetics Public Health (GPH) Fellowship (for genetics professionals in training) hosts online discussion on special health care needs and public health genetics. Stay tuned for our new Facebook page and website! Email us at NYMAC@wadsworth.org for more information about NYMAC and ways to get involved as a self of family advocate.

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Region 3: Southeast Regional NBS and Genetics Collaborative States included in the region: Louisiana, Mississippi, Tennessee, Alabama, Georgia, Florida, North Carolina, South Carolina, Puerto Rico, US Virgin Islands

About the Region More information about the organizational structure and current work of the Southeast Regional NBS and Genetics Collaborative (SERC) can be found at http://southeastgenetics.org/pdf/2014/2014.07.09_Organizational_Chart.pdf. SERC has a Consumer Alliance for individuals with genetic conditions and their families. Within the Consumer group, we have workgroups and monthly calls in the areas of communication, emergency preparedness and transition. Ways to get involved as a self or family advocate For more information about and to get involved with the Consumer Alliance visit http://southeastgenetics.org/committees.php/6/general/Consumer_Alliance_Workgroup The website has more information for volunteering with the collaborative. Individuals can also contact the region’s Program Manager (currently Lokie Harmond at Emory University, lokie.harmond@emory.edu) who puts them in touch with the workgroup chair that they are interested in joining. Reimbursement for participation in the annual summer meeting is available each year and may be available if other meetings are hosted.

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Region 4: Region 4 Midwest Genetics Collaborative States included in the region: Michigan, Minnesota, Illinois, Indiana, Ohio, Kentucky and Wisconsin

About the Region The Region 4 Midwest Genetics Collaborative is housed within the Michigan Public Health Institute, based out of Okemos, MI. There are five staff who work on the project, including a Project Director, Project Coordinator, and a Parent Coordinator. The Parent Coordinator is the parent of a child with a genetic condition and works with family members to help support and represent the family voice in the initiative. The infrastructure consists of stakeholder forums, workgroups and an Advisory Board. Stakeholder Forums Region 4 (R4) stakeholder forums is the infrastructure designed to encourage sharing among groups of like stakeholders such as families, genetic service providers, newborn screening laboratorians and leaders in public health. The forums support discussion of common concerns across the region, share best practices, and identify priorities to be addressed within the Region 4 workgroup structure. Workgroups The workgroup structure includes membership from multiple forum groups and is the infrastructure that supports the development of materials, products and systems to improve quality of, and access to newborn screening and genetic services as identified in Region 4 strategic planning process. Region 4 workgroups include: Public Health Newborn Screening Long-term Follow-up, Hemoglobinopathies, Congenital Hypothyroidism 3-year Follow-up, and Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) Implementation. All Region 4 project work is accomplished through engagement of a workgroup and/or a stakeholder forum. Advisory Group The Region 4 Advisory Group is instrumental to the success of the Region 4 Genetics

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Collaborative. Membership of the Advisory Group includes the lead of each forum, the leads and co-leads of each workgroup, and the Region 4 representatives to National Coordinating Center (NCC) workgroups (transition, medical home, telemedicine). The Advisory Group meets quarterly to provide input, advice and guidance on barriers to grant implementation, workgroup products and overall grant direction. Family Forum The Family Forum is made up of parents and other family members of individuals with genetic conditions. This forum’s purpose is to support discussion of common concerns, share best practices and identify priorities to be address, in addition to working on specific projects of interest to the forum. The forum has had a key role in the outreach and expansion of the Care Coordination: Empowering Families training curriculum developed by Region 4 in 2012. The forum helped pilot the trainings in three states by identifying locations, securing meeting space, recruiting participants and sharing feedback after the trainings. After the pilots, the training was held in the remaining four states in the region and the Family Forum provided assistance and oversight to these trainings as well. In addition to the Care Coordination: Empowering Families trainings, the Family Forum also completed work on creating videos to share their stories and provide information and support to other families. These videos will be shared on the Region 4 website, Youtube and distributed to regional and national partners for sharing. Ways to get involved as a self or family advocate The Region 4 Genetics Collaborative views parents and family members of children who have a genetic condition as valuable stakeholders in the collaborative. They are encouraged and supported to become involved in workgroups and other decision-making processes. Parents and family members bring an important and unique perspective to the work of Region 4, and have been recruited from each of the region’s seven states. Parents participate as co-leads and play an important role in informing the workgroup process. In addition, there is a larger group of parents and family members who provide their perspectives and opinions on products as they are developed and distributed by Region 4. Region 4 has a dedicated Parent Coordinator whose job is to help recruit parents and promote their involvement. She staffs and/or leads forum and workgroup meetings and solicits information from parents as needed. She supports parents before, during and after meetings by maintaining contact with them, answering questions, and clarifying issues being addressed by the Collaborative. A key aspect is the relationship she develops with parents to help them feel more comfortable and informed within the collaborative. Region 4 values the input of parents and families and provides a stipend for the time they spend on workgroups and other activities at $20 an hour. Parent workgroup co-leads receive $150 for each 90-minute workgroup telemeeting and $600 for regional meetings. These various methods of support demonstrate to the parents and family members that they are valued and respected stakeholders in Region 4.

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Region 5: Heartland Genetics and Newborn Screening Collaborative States included in the region: North Dakota, South Dakota, Nebraska, Iowa, Kansas, Missouri, Oklahoma and Arkansas

About the Region The Heartland Genetics and Newborn Screening Collaborative is co-located at the Oklahoma and University of Arkansas Health Science Centers. The organizational structure of Heartland Regional Genetics and Newborn Screening Collaborative reflects our commitment to including representatives from all states and from all interested groups. Our goal is to ensure participation and consideration of all viewpoints at all levels. The Heartland Regional Coordinating Center is our administrative home, and provides leadership, decision making, grant and budget management, project management, and facilitates communication. The Heartland Genetics and Newborn Screening Collaborative welcomes participation by anyone with an interest in clinical genetics and newborn screening in our region. We promote inclusion of consumers, advocates, and lay partners in a meaningful and substantial way and at all levels of organizational structure. Our goal is to ensure participation and consideration of all viewpoints at all levels. Ways to get involved as a self or family advocate Join the list serve: Our list serve disseminates information from the Regional Coordinating Center on our events, projects, meetings, funding, etc., and allows members to network and communicate with each other. It also disseminates national information related to genetics and newborn screening. Subscribe to the Newsletter: The Heartland Quarterly covers information from our member states and updates on the Heartland Collaborative. Attend a Meeting: Please see the Calendar on our site for a list of all our upcoming meetings. Almost all are by teleconference, and are open to any interested parties.

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Join a Work Group: All of our work groups have open membership. For more information on each group, please visit the Work Group pages. Contact us if you are interested in joining. Attend our Annual Conference: We meet in person in a different state in our region each year. Our conference is free, and offers an opportunity to learn about and participate in on-going Heartland projects, as well as planning for the future. Updates and education on relevant genetics and newborn screening issues are also included.

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The Advisory Board makes decisions that require rapid response, approves documents and pilot project awards, advises on key issues and plans, and will provides key leadership in implementation of the Heartland Regional Genetics Plan. The advisory board has a defined membership. We have four work groups: Newborn Screening, Clinical Genetic Services, Advocacy, Transition. We also have three ad hoc work groups ESL, EHDI and Individual Health Plans. These groups plan and participate in regional projects in these areas. Any member of the Collaborative can participate on a Work Group, but each Group as well as Heartland Projects designate “core members” for the purposes of reimbursement of expenses. Advocate Work Group members in particular are reimbursed for their expenses for participating in Heartland activities. Outside of Work Groups, projects are implemented through the Pilot Project Program and through sub-contracts. Please see the Projects page on the Heartland website for more information on Heartland projects. The Evaluator works with the Regional Coordinating Center to develop and implement evaluation plans. See more at: http://www.heartlandcollaborative.org/about/how-were-organized/#sthash.bGO5yZ4s.dpuf The Advocate Work Group is composed of members of the Heartland Regional Genetics and Newborn Screening Collaborative residing in our eight member states. Core members include one advocate representative from each state. Advocates are family members, parents or individuals affected or impacted by genetic disorders. The Advocate Work Group meets regularly, but also is committed to insuring advocate representation on all other Heartland work groups and projects with the goal of infusing the individual and family perspective into their activities. This allows the Collaborative to insure individual and family input occurs at all levels of Collaborative activities, including the Advisory Board. A central focus of activities in the Collaborative has been and remains supporting best practices around the partnership between caregivers and individuals and medical (and related) professionals both at the clinical as well as all other levels of concern – advocacy and policy, emerging practices and technology, and so forth. Combining the lived experience and professional perspectives provides a stronger and more balanced message to policymakers regarding the direction of the genetics and newborn screening fields and next steps for the field. See more at: http://www.heartlandcollaborative.org/work-groups/advocate/#sthash.uneP7qYr.dpuf

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Region 6: Mountain States Regional Genetics Collaborative (MSRGC) States included in the region: Arizona, Colorado, Montana, New Mexico, Nevada, Texas, Utah and Wyoming

About the Region The geographic area is very large and includes some of the fast growing regions in the country. At the same time, the member states contain very large areas that are lightly populated and without access to nearby genetic services. The Texas Health Institute (THI), based in Austin, administers the Mountain States Genetics Regional Collaborative (MSGRC), which began a new five-year grant cycle on June 1, 2012. Other MSGRC staff members are located in Denver. The MSGRC ensures that individuals with heritable disorders and their families have access to quality care and appropriate genetic expertise and information in the context of a medical home. The MSGRC facilitates regional collaboration, encourages involvement of diverse populations, and supports innovative mini-projects that inform quality improvement and systems change in the newborn screening and clinical genetics health care delivery systems. Mountain States operates through its Advisory Council, which includes consumer members, and workgroups, which are focused on particular areas of interest to Mountain States. The workgroups are Consumer Advocacy, Emergency Preparedness, Health Information Technology, Medical Home, Newborn Screening and Telegenetics. There are active consumer participants in each of the workgroups, and consumers chair or co-chair all but one of the workgroups. Among the projects currently underway in the workgroups are the following:

• Implementation of the Affordable Care Act • Evaluation Project – using logic models the CDC Framework For Evaluation to gauge the

efficacy of the work of MSGRC workgroups • Family History Project – development of a plan for regional implementation of electronic

family history tools • Hemoglobinopathy Long Term Follow-up • Improving Access To Services – medical homes for youths served by clinics treating

inborn errors of metabolism

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• Metabolic Consortium – dedicated to improving outcomes for newborns with metabolic disorders

• Medical Home And Family Partnership Project – pilot pairing parents of affected children with pediatric primary care centers in Montana and Wyoming

To cultivate a culture of meaningful consumer engagement in MSGRC matters, MSGRC provides mentoring to new consumer participants and financial support to participating consumers by paying for travel, lodging and meals related to 1 or 2 annual in-person meetings of MSGRC members. The mentoring process includes providing concise and relevant orientation materials to new consumer members and assignment of a more experienced consumer participant to be available to allow new members to become rapidly integrated into MSGRC. It is a core principle of MSGRC that consumers should be actively involved in, and fully integrated into, the work of the MSGRC and, at the same time, serve as a conduit to the ideas and concern of consumers who are not members of MSGRC.

Are you interested in getting involved with the MSGRC Family Advocates Workgroup? Contact Marilyn Brown, Project Manager at MBrown@texashealthinstitute.org

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Region 7: Western States Genetics Services Collaborative (WSGSC) States/territories included in the region: Alaska, California, Guam, Hawaii, Idaho, Oregon, and Washington

About the Region Spanning six time zones and the International Date Line, from the frontier of northernmost Alaska to the Pacific island territory of Guam, the Western States Genetic Services Collaborative (WSGSC) includes the most geographically and ethnically diverse region in the country. Administered by Sylvia Mann, MS, CGC, Chief, Genomics Section, Hawaii Department of Health, WSGSC partners improve genetics services and newborn screening for people living in the western region by applying: Public Health Core Functions: 1) Policy; 2) Assessment; 3) Assurance Partners Public health, health care and health and human service partners (including family advocate leaders) from each western state and Guam collaborate to work toward the common goals of improving education, access and financing for genetics services and newborn screening. Partners from each Western State and Guam

• Public health genetics and newborn screening leaders • Family Voices, Family to Family Health Information Centers, Parent to Parent

leaders • Medical geneticists, genetic counselors, primary care providers, nutritionists • Children and Youth with Special Health Care Needs (C/YSHCN) program leaders • Leadership Education in Neurodevelopmental and Related Disabilities (LEND)

program leaders • Regional pediatric tertiary centers

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What does WSGSC do? How does WSGSC work?

1. Funding and Advisory Groups: HRSA Genetic Services Branch, National Coordinating

Center, Advisory Committee on Heritable Disorders in Newborns and Children 2. Evaluation: Jacquie Stock, MPH, Manager, Seattle Children’s Center for Children with

Special Needs 3. Stakeholders: state and territory public health genetic services and newborn screening; state

CSHCN and LEND programs; state and territory Family Voices, Family to Family Health Information Centers, Parent to Parent family advocates leaders; genetic counselors; medical geneticists; metabolic nutritionists; primary care organizations; family practice physicians; medical home experts; NBS laboratories, third party payors; information technology and telemedicine; state policy makers; academic partners

4. Steering Committee: state and territory health departments, 2 family advocates, 2 primary care providers, 1 medical geneticist, 1 genetic counselor, 2 NBS lab representatives, 1 evaluation consultant

5. Project Coordinator: Lianne Hasegawa, MS, CGC, Hawaii Department of Health 6. Project Work Groups: numerous projects targeting access, financing, quality and education

in genetics services and newborn screening.

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Ways to get involved in Western States Genetic Services Collaborative as a self or family advocate: Do you have ideas or need help on a genetics or newborn screening project? Contact Jacquie Stock, MPH (206) 987-3729, Jacquie.Stock@seattlechildrens.org. We’d love to hear your ideas. The first genetics collaborative to include family leaders in planning for the initial grant application and all aspects of collaborative work, from inception, the Western States Genetic Services Collaborative adhered to the philosophy of partnering with families at all levels. Family advocate leaders participate, as do other professionals, in planning and implementing Collaborative projects. In order to reach the largest number of families in the region, WSGSC members include family leaders from each Western state organization of the following national organizations:

• Family Voices • Family to Family Health Information Centers • Parent to Parent organizations

Equity in Reaching People with Rare Genetic Conditions Partnering with family advocate organizations not only allows reaching the largest number of families, but also enables back and forth sharing of information and ideas among families reached by these organizations and Collaborative members. Additionally, these family organizations, along with genetic specialists in the region and Genetic Alliance, are able to communicate with leaders from condition-specific advocacy organizations. Because there are hundreds of genetic conditions, there are hundreds of condition-specific advocacy organizations who can be reached through a national organization such as the Genetic Alliance. This approach assures equity in reaching people with rare conditions as well as those with more prevalent genetic conditions. Additionally, partnering with condition-specific organizations and Genetic Alliance enables information and project sharing for teens, young adults and adults who are not necessarily served by pediatric-focused family advocacy organizations.

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Family Advocate Role and Responsibilities

in the Regional Western States Genetic Services Collaborative Members of the Western States Genetic Services Collaborative (WSGSC) Family Work Group wrote the following description of the role and responsibilities of family advocates within the Collaborative. 1. Bring a family leader perspective to WSGSC activities, representing the

population of families with or at risk for genetic conditions, not limited to condition-specific advocacy.

2. Serve as an active participant in the WSGSC Family Work Group. 3. Serve as a family leader stakeholder in WSGSC activities including Steering

Committee, planning projects, work group leadership or participation, and evaluation.

4. Serve as a liaison between the state’s/territory’s Family to Family Health

Information Center and the WSGSC. 5. Serve as a liaison between the state’s/territory’s Family Voices and the

WSGSC. 6. Bring state-specific family perspectives to guide WSGSC activities. 7. Link other state-specific, genetics-related family groups with WSGSC. 8. Connect with family organizations or families within his/her own state to

share information and obtain family input related to life course genetic services and newborn screening issues.

9. Assist in identifying other family leaders to participate in specific projects or

activities. 10. Attend the annual regional summit. 11. Attend relevant conferences and meetings with funding from WSGSC, as

a WSGSC representative.

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III: Glossary of Terms Affordable Care Act Implementation: The process of carrying out the activities and policies written in the 2010 Affordable Care Act; A work group of the NCC. Baby’s First Test: An online resource for educating parents, family members, health professionals, industry representatives, and other members of the public about the newborn screening system. Cooperative Agreement: A funding source for the NCC through HRSA. Family History: A record of a family and the lives of its members, generally in terms of health. Follow-up: Maintaining contact or reconnecting with someone (generally a patient) after some period of time. For example, a doctor may follow-up with a patient after providing a treatment. Health Care Access and Financing: An NCC workgroup focused on improving healthcare insurance coverage for individuals with genetic conditions. Hemoglobinopathies: A genetic that results in an abnormal structure of the globin chain of the hemoglobin (the protein in red blood cells). Individual Health Plan: A document written by a school nurse or other health provider in collaboration with a student, their family members, and other professionals for students whose healthcare needs affect or have the potential to affect safe and optimal school attendance and academic performance. Medical Home: Community-based primary care setting that provides and coordinates high quality, planned, family-centered health promotion, acute illness care and chronic condition management – across a lifespan. Metabolic: Of or relating to the process by which plants and animals use food and other sources to make energy and use for life processes. Pilot: A test run. Telegenetics: A work group of the NCC; genetic testing and counseling services at a distance, for example over a computer network. Title V: Refers to Title V of the 1935 Social Security Act that established Maternal and Child Health program. Each state in the US receives funding from the government for maternal and child health activities through the Title V Block Grant. For more information, visit: http://mchb.hrsa.gov/programs/titlevgrants/

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Transition: The switch from pediatric care to adult care in individuals with special needs. Virtual Repository of Dried Blood Spots (VRDBS): An online tool hosted by NBSTRN that allows state newborn screening programs to control and manage access to dried blood spots for newborn screening related research. During newborn screening, the baby’s heal is pricked to collect a small sample of blood. The health professional will put drops of blood onto a filter paper card to create several “dried blood spots.” The newborn screening card is then sent to the state laboratory for analysis. Each state has different rules for retaining dried blood spots, for more information visit http://www.babysfirsttest.org/newborn-screening/what-happens-to-the-blood-sample

IV: Relevant Acronyms ACMG: American College of Medical Genetics and Genomics, a national nonprofit association that leads the National Coordinating Center for RCs. APHL: Association of Public Health Laboratories, a national nonprofit association that leads the Newborn Screening Technical assistance and Evaluation Programs (NewSTEPs). CCHD: Critical congenital heart defect (CCHD) refers to any defect in the heart that is present at birth and may be life threatening. CDC: The Centers for Disease Control and Prevention (CDC) is an agency within the Department of Health and Human Services (HHS) that focuses on the health safety of the United States. Congenital Hypothyroidism 3-year Follow-up: Re-meeting with an individual with congenital hypothyroidism 3 years after diagnosis. EHDI: Early Hearing Detection Intervention (EHDI); a work group within the Heartland Genetics and Newborn Screening Collaboration of the NCC that focuses on assessing state’s needs in EHDI programs and ways in which states can collaborate. ESL: English as a second language. FV: Family Voices; a is a national, nonprofit, family-led organization promoting quality health care for all children and youth, particularly those with special health care needs. HRSA: The Health Resources and Services Administration (HRSA) is an agency within the Department of Health and Human Services (DHHS) that focuses on improving access to health care and strengthening the health care workforce. IBEM-IS: Inborn Errors of Metabolism Information Systems (IBEM-IS) is focused on improving scientific knowledge of IBEMs.

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LEND: Leadership Education in Neurodevelopmental and Related Disorders; University-based interdisciplinary training programs for graduate students. MSGRC: Mountain States Genetic Regional Collaborative (MSGRC) is the RC for the states near the Rocky Mountains. NBS: Newborn screening. NBSTRN: Newborn Screening Translational Research Network; a resource providing data and information for researchers involved in newborn screening related research. NCC: National Coordinating Center for the Regional Genetics Services Collaboratives, The central center that coordinates the work of the RCs. NEGC: New England Genetics Collaborative (NEGC) is the RC for the New England region. NewSTEPs: Newborn Screening Technical assistance and Evaluation Programs; an initiative focused on improving state newborn screening programs. NGECN: National Genetics Education and Consumer Network, a three-year initiative run by Genetic Alliance that focuses on building a network of partners and developing tools that will improve access to and quality of care for individuals and families affected by genetic conditions. P2P: Parent to Parent; A national network of parent-matching programs that provide emotional support to families and assist them in finding information and resources. RCs: Regional Genetics Collaborative (RCs) are grant-funded programs that are meant to strengthen and support state’s newborn screening capacity and to improve the availability, accessibility, and quality of genetic services and resources for individuals either with genetic conditions and at risk. SACHDNC: Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children The committee responsible for providing recommendations, advice, and technical information regarding the most appropriate application of technologies, policies, guidelines, and standards in relation to heritable disorders to the Secretary of the HHS. SCID: Severe combined immunodeficiency (SCID) is a genetic condition in which the immune system is severely limited and not functional. SERC: Southeast Regional NBS and Genetics Collaborative is the RC for the southeastern states. THI: Texas Health Institute, A Texas based nonprofit that focuses on improving the quality, access, and cost effectiveness of health care in the community.

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WSGSC: Western States Genetics Services Collaborative (WSGSC) is the RC for the west coast region.

V. Other Resources Best Practices for Joining and Participating on Advisory Committees http://www.geneticalliance.org/sites/default/files/publicationsarchive/advisorycommittees.pdf Article: Don’t Just Invite Us to the Table: Authentic Community Engagement http://online.liebertpub.com/doi/pdf/10.1089/gtmb.2013.1545 Article: Nothing About Us Without Us: Guidelines for Genetic Testing http://www.geneticalliance.org/sites/default/files/expectinghealth/NothingAboutUsWithoutUs052013.pdf The Pebble in the Pond: Engaging Culturally Diverse Families in Advocacy http://www.geneticalliance.org/sites/default/files/advocacyatlas/eng_culturally_diverse.pdf Involving Families as Advisors http://cshcn.org/support-connection/involve-families-advisors Together We Can Move Mountains: Parents as Leaders in Improving Systems for Children and Families http://www.geneticalliance.org/sites/default/files/advocacyatlas/together_move_mountains.ppt Parents as Collaborative Leaders http://www.uvm.edu/~pcl/modules.php Making an Impact: Representing the Family Voice on Committees and Advisory Councils http://www.geneticalliance.org/sites/default/files/advocacyatlas/Family_Voices_on_Committees.pdf