GSB/MCHB Technical Assistance Meeting for Newborn Screening & Genetics 
Infrastructure Grants

State Abstracts  

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District of Columbia

Maternal and Child Health Improvement Projects Abstract 

Project Title:  Genetic Services Program 
Project Number:  93-110A 
Project Director:  Joyce E. Brooks                                Phone:(202) 442-9338 
Organization Name:  District of Columbia Department of Health, Maternal and Family    Health Administration 
Address:  825 North Capitol Street, N.E., Washington, D.C.  20002 
Contact Person:  Marilyn Seabrooks Myrdal                    Phone:(202) 442-9333
Fax: (202) 442-4814
E-mail: mseabrooks@dcheatlh.com
Project Period:  4 Years
From:  06/01/02 to 05/31/06

Purpose: In this four-year program, the District of Columbia Department of Health, Maternal and Family Health Administration (DC DOH) will facilitate the integration of genetic services, including newborn screening, into existing state children with special health care needs care and information systems.

Challenges:  Of the 542 DC residents who were diagnosed with genetic disorders or who used genetic services along with their families in 2000, a majority of them are from the poorest Wards in the DistrictóWards 5, 6, 7, and 8.  The overwhelming number of them are either African American or Hispanic.  While very young children comprise a significant number of patients using genetic service sites, 55 percent were over 5 years of age.  Thirty-five of the patients, or 16 percent, were over 35 years old.  Almost 30 percent of these patients were uninsured, which is almost double the District average.  The DC DOH must provide these residents and others in the future with improved linkages between public health and personal health systems to (1) enhance the delivery of services to all individuals with genetic disorders; and (2) to ensure that these services are provided in medical homes.

 Goals and Objectives: The basic goal of the DC Genetic Services Program is to facilitate the integration of genetic services by improving linkages between public health and personal health systems to (1) enhance the delivery of services to all individuals with genetic disorders; and (2) to ensure that these services are provided in medical homes.  The program has five specific goals:  (1) to develop an integrated information system to ensure client tracking and follow-up; (2) to strengthen the DC DOHís capacity to decrease the incidence of genetic disorders that may be preventable; (3) to improve the publicís knowledge about the benefits, risks, and limitations of genetic screening and testing; (4) to ensure the children with genetic disorders have adequate health coverage; and (5) to develop assessment and quality assurance measures for the Genetic Services Program. 

Methodology: The DC DOH and its partners will (1) develop an integrated information system to ensure client tracking and follow-up; (2) strengthen the DC DOHís capacity to decrease the incidence of genetic disorders that may be preventable; (3) improve the publicís knowledge about the benefits, risks, and limitations of genetic screening and testing; (4) ensure that the children with genetic disorders have adequate health coverage; and (5) develop assessment and quality assurance measures for the Genetic Services Program. 

Evaluation:  The DC Genetic Services Programís evaluation plan will have five basic components so that the program can collect, analyze, and disseminate useful evaluation data:

(1) Program objectives:  program objectives will be clear, measurable, and practical to guide the evaluation effort; (2) Management Information Systems:  the program will use the DC DOHís citywide data collection system along with an expanded management information system to collect and retrieve information as efficiently and accurately as possible; (3) Evaluation methods:  the program has developed a variety of evaluation methods that are appropriate to its clients and activities; (4) Evaluation procedures:  the program has developed standard operating policies and procedures for collecting, recording, organizing, and processing data; and (5) Reporting and using results:  the program will produce annual reports that safeguard the confidentiality of clients and that are prepared clearly, accurately, and concisely in ways that enhance evaluation and dissemination.  Evaluation instruments will measure both process and outcome indicators.

 Experience to Date:  The DC DOH has (1) implemented newborn metabolic screening since 1980, when the Districtís law was enacted for the mandatory screening of certain metabolic disorders; (2) developed and implemented a Genetic Services Program for District residents and their families since 1982; (3) implemented the Universal Newborn Hearing Screening program mandated by District law passed in 2000; and (4) begun implementing a DC Birth Defects Surveillance Program to reduce preventable birth defects in the District and to improve access by children with birth defects to health services and early intervention activities.

 Text of Annotation:  The DC DOH will facilitate the integration of genetic services, including newborn screening, into existing state children with special health care needs care and information systems.  As a result of this program, the DC DOH will improve linkages between public health and personal health systems to (1) enhance the delivery of services to all individuals with genetic disorders; and (2) to ensure that these services are provided in medical homes.  It is based on the recently developed DC Genetic Services State Plan, which will serve as a blueprint for enhancing genetic services in Washington, DC.

 Key Words:  Genetic disorders; genetic services; genetic screening; genetic counseling; community integrated health system.

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Hawaii

Maternal and Child Health Improvement Projects
Abstract

Project Title: Hawaii Genetic Awareness, Implementation, and Data Project
Principal Investigator: Sylvia M. Au, M.S., C.G.C.
Organization: Hawaii Department of Health
Address: 741 Sunset Avenue
Honolulu, HI 96816
Contact Person: Sylvia M. Au, M.S., C.G.C. Phone: (808) 733-9063
Fax: (808) 733-9068 E-mail: smau@fhsd.health.state.hi.us
Project Period: 3 Years From: 6/01/2001 to 5/31/2004

Purpose: The Hawaii Genetic Awareness, Implementation and Data (Gene AID) Project will continue to implement its current and revised State Genetics Plans and integrate the information and referral systems for the Newborn Screening programs, Children with Special Health Needs Program and Early Intervention Services program.

Challenges: The project is designed to integrate newborn screening, birth defects and early intervention data systems within the framework of federal and state laws. The project also proposes to increase statewide genetic awareness for a broad audience and implement genetics into public health programs while trying to address consumers with limited science knowledge.

Goals and Objectives: The long term goals and objectives for this project are to:

1) Integrate Newborn Metabolic Screening, Newborn Hearing Screening, Children with Special Health Needs, and Early Intervention Services Program data and/or referral systems;
2) Increase genetic awareness in physicians, public health professionals, consumers, legislators, and policy makers;
3) Incorporate genetics content and follow-up into appropriate public health programs; and
4) Help ensure that public health genetics programs have stable and sustainable funding.

Methodology: 1) Integrate data and/or referral systems
Data from newborn metabolic screening and newborn hearing screening programs and birth defects program will be integrated using a common data system. This new system will have linkages to the Early Intervention Services data system to increase the referrals of eligible children.
2) Increase Genetic Awareness
Educational materials and activities will be developed and implemented for consumers, health care providers, public health professionals, legislators and policy makers.
3) Incorporate genetics follow-up for public health programs.
Genetics content which may include education and referral for genetic counseling and evaluation will be incorporated into the newborn hearing screening program. Also, in collaboration with the chronic disease program, one model chronic disease program will be chosen to develop and implement genetics content, referral and follow-up activities into the program. This model will be evaluated for use in other chronic disease programs.
4) Investigate utilization of new technology for newborn metabolic screening. A workgroup will investigate the practicality (validity, cost effectiveness, acceptability by the community, etc.) of adding new technology, such as Tandem Mass Spectrometry Screening, to our NBMS Program. Information from the workgroup will be presented for review by the NBMS Advisory Committee.
5) Ensure that Public Health Genetics Programs Have Stable and Sustainable Funding
The project staff will work to increase the knowledge and use of the State Genetics Plan to advocate for local, regional and state funding for genetics activities. The project staff will identify and publicize funding sources for genetics activities and provide technical assistance to obtain funding for other programs as time permits.

Evaluation: The evaluation will include: (1) process evaluation of the attainment of stated goals, objectives and activities within the given time frame; (2) increased integration of data and information systems related to genetics; (3) analysis of pre and post test results from educational activities; (4) analysis of evaluation forms from activity participants; and (5) tracking the use of project materials such as number of media segments generated, hits on the website, and requests to project staff for more information.

Experience to
Date: 1) Department of Health established Newborn Metabolic Screening Program (1986), Birth Defects Program (1988), Newborn Hearing Screening Program (1990), and full time State Genetics Coordinator position (1993).
2) Genetics Needs Assessment completed in 1993 and State Genetics Plan completed in 1994.
3) The Newborn Metabolic Screening Program centralized the newborn screening laboratory services, standardize follow-up procedures, improve tracking systems, and became self sustaining (1996).
4) The Principal Investigator was a member of the HRSA/AAP Newborn Screening Task Force (1999)
5) Department of Health awarded HRSA State Genetics Planning Grant to redo genetics needs assessment and revise state genetics plan (2000).

Text of Annotation: The Hawaii Genetic Awareness, Implementation, and Data (GeneAID) Project will integrate the information and referral systems for the Newborn Screening programs, Children with Special Health Needs Program and Early Intervention Services program. The project will increase genetics awareness in health care providers, consumers, public health professionals, and policy makers. HIGIP will also incorporate genetic content and referral for genetics services in newborn screening and other appropriate public health programs such as chronic disease.

Keywords: Hawaii, Genetics, State Genetics Coordinator, State Genetics Plan, Data Integration, Genetic Needs Assessment, Genetic Awareness, Newborn Metabolic Screening, Newborn Hearing Screening, , Birth Defects Program


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Iowa

Maternal and Child Health Improvement Projects Abstract

Project Title: Implementation of the State Genetics Plan for Iowa
Principal Investigator: J. Anderson, R.N., M.A., CPNP, State Coordinator for Genetic Services
Organization: Iowa Department of Public Health
Address: Lucas State Office Building
Division of Family and Community Health
321 E. 12th Street
Des Moines, IA 50319-0075
Contact Person: Jean Anderson Phone: (515) 281-7584
Fax: (515) 242-6384 E-mail: janderso@idph.state.ia.us
Project Period: 3 Years From: 6/1/2001 to 5/31/2004

NARRATIVE

Purpose: The Iowa Department of Public Health (IDPH) was awarded a HRSA/MCHB SPRANS planning grant in 1999 to develop a state genetics plan and integrated data collection and service system for the purpose of enhancing early intervention services. An integral part of that grant included conducting needs assessments of the genetic services and programs in Iowa and assessing the capacity for integrating data systems. A State Genetics Plan for Iowa was developed to delineate the recommendations from planning grant activities. However, it was reaffirmed during the course of developing the State Genetics Plan that while there is great interest and desire to implement the recommendations, there are few resources to do so. Consequently, the purpose of this grant application is for IDPH to implement portions of the State Genetics Plan by first building a Web-based vital records system and data repository. The data repository will be linked to the Iowa Neonatal Metabolic Screening Program and the Iowa Birth Defects Registry. Several projects related to those two programs, which will improve the services provided to Iowa newborns, will be implemented. Plans include adding newborn hearing screening and the childhood immunization programs to the data repository, as well as other programs.

Challenges: This project is designed to address several recommendations of the State Genetics Plan concerning data collection and management as it relates to Iowa newborns. Special challenges include administrative rules that need to be changed, and in some cases, new ones written, in order for a data repository to be developed and data shared between programs. Also critical to the success of the project will be developing and implementing a new system of collecting birth and fetal/infant death certificate information. The data repository must be developed in such a way that essential programs have access to the information; however, the access must be controlled and defined in such a way as to be consistent with the Iowa Administrative Code. The fundamental challenge is to provide the public health infrastructure to develop new or enhance existing programs in order to assist Iowa families in accessing care and services.

Goals and Objectives:
1. Provide the policy development and assurance necessary to establish an integrated data repository for Iowa's genetics and selected MCH population based and direct health care programs.
a. Develop policies and rules supporting the creation and use of an integrated data repository.
b. Develop and implement a Web-based birth and fetal/infant death certificate reporting and data management system.
2. Develop public health infrastructure to ensure effective and efficient newborn surveillance and metabolic screening systems in Iowa.
a. Enhance the Iowa Neonatal Metabolic Screening Program capacity to assure uniform short-term follow-up and to monitor and track identified newborns through adulthood.
b. Implement policies to assure timely collection, dissemination and utilization of Iowa Birth Defects Registry (IBDR) data.
c. Implement a system of informing families when their child has been ascertained by the IBDR and provide them with information about early intervention services.
d. Continue efforts to expand data repository capacity to provide access to newborn hearing, WIC, childhood immunization programs, and local health care providers. 

Methodology: Public health infrastructure will be developed by building a Web-based electronic vital records system as the foundation for additional projects, including development of a data repository basic to an integrated data system. Secondary projects include designing a database to ensure all newborns have neonatal metabolic and hearing screening, as well as linking demographic data from the vital records system to the IBDR is essential to the project. This will assure the ability to provide families with information they need and desire, as well as ultimately to provide the local health care providers with access. A steering committee will provide guidance to the Bureau of Information Management in the development of the Web-based electronic vital records system and related databases. 

Evaluation: Successful completion of these proposed grant activities will be ensured by closely monitoring the time lines and work plan as submitted with the grant application, and will be measured by determining if we have met all goals and objectives in a timely manner. Success will be determined by whether families have received improved care and services.

Experience to Date: The Birth Defects Institute was successful in acquiring funding for the development of the State Genetics Plan for Iowa in 1999. As a result, an extensive genetics needs assessment was completed, which included information from consumers, clients, parents, service providers and public health programs. The needs assessment helped to clarify the priority genetic issues for Iowa. An evaluation of the current data systems and databases at IDPH was completed. A State Genetics Plan for Iowa was developed as a result of those efforts. The plan provides many recommendations pertinent to this project.

Text of Annotation: It is the purpose of this grant to develop a Web-based birth and fetal/infant death certificate system that will be the foundation for developing a data repository. Databases with controlled accessibility will be built to provide linkage between this system and the newborn screening systems and the birth defects surveillance program. Parents will be provided information about early intervention programs.

Key Words:
Children with Special Health Needs
Data Systems
Families
Genetic Services
Hearing screening
Infant screening
Newborn screening

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Indiana

Maternal and Child Health Improvement Projects Abstract

Project Title: Indiana's Genetics Plan Implementation Grant for the Integration of Programs and their Information Systems
Principle Investigator/Project Director: Scott T. Michalski, M.S.
Organization: Indiana State Department of Health
Address: Genetics Disease Program, 2 North Meridian Street, Section 8-C, Indianapolis, Indiana 46204
Contact Person: Scott T. Michalski, M.S.
Telephone Number: (317) 233-1268
Fax Number: (317) 233-1300 Email Address: smichals@isdh.state.in.us
Project Period: Four Years From: June 1, 2002 to May 31, 2006

Purpose

The purpose of the project to ensure people with genetic conditions and special health care needs receive comprehensive and coordinated health services. This will be accomplished through the integration of child health related data systems and programs. 

Challenges

Children and adults with special health care needs have an array of medical and social needs. Fragmentation of programs and medical services for this population had made monitoring and coordinating these needs a difficult task for a family. 

State service systems face a similar problem. Program and data systems fragmentation hinders the ability to coordinate services and reduce redundancy. This has lead to inefficiencies in the programs and increased burden on service provision.

A third challenge is for public health infrastructure to keep pace with the rapidly advancing medical science, technology, practice and privacy laws (Health Information Portability and Accountability Act). There is a great need for policy and program development to address the ethical, social, and legal implications of genetic services and technology.

Goals and Objectives

The overall goal of this project is to increase the use of available services for children with genetic conditions and special health care needs. Raising medical professionals' and family's awareness of services available and the creation of a linked child health data system will allow for better identification and tracking of children's medical needs. The specific goals of this project are to: 1) create a linked child health related data system at the Indiana State Department of Health (ISDH); 2) connect children with special health care needs to appropriate early intervention, health care services, and a medical home; 3) enhance and support the Indiana Birth Defects Surveillance System (IBDSS); and 4) educate the lay public and medical professionals about genetics and children with special health care needs. 

Methodology

The Indiana Child Health Data Repository will be created at the ISDH through the linkage of existing databases including vital statistics, newborn screening, the Children with Special Health Care Needs Program, IBDSS, and the immunization registry. The IBDSS will be strengthened through studies to determine data quality and timeliness and through the addition of a state birth defects coordinator. The use of early intervention, genetics, special health care needs services and the medical home concept will be promoted through intensive education and outreach campaigns targeting families, medical professionals, legislators and the lay public.

Evaluation

The principle investigator of the grant and the Indiana Genetics Advisory Committee (IGAC) will be responsible for quarterly reviews of the progress of proposed grant activities. Successful completion of indicators stated on the "Qualitative Work Matrix" will signify completion of proposed objectives. The success of ongoing efforts to promote the use of early intervention and programs for children with special needs will be monitored through changes in program enrollment databases and follow-up surveys.

Experience to Date

Public health genetics activities began in Indiana in 1986 with newborn screening for Phenylketonuria (PKU). In 2002, the Indiana Newborn Screening Program will have grown to include screening for nearly 30 congenital conditions. An MCHB grant was received in 2000 that stimulated the establishment of the IGAC and the development of the Indiana State Genetics Plan. Data integration has progressed through the Genetics Planning Grant, two SSDI grants, and a Universal Newborn Hearing Screening Grant.

Text of Annotation

Care for children with special healthcare needs is often complex and multidimensional. Too often this results in uncoordinated care and children not receiving beneficial services. Integration of state child health related data systems and programs will promote the use of available services by children with special health care needs. The development of educational materials and modules will promote the use of existing services and the promotion of comprehensive, coordinated care through a medical home.

Key Words

Public Health Genetics, Data Integration, Genetics Education, Child Health Profile, Children with Special Health Care Needs

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Massachusetts 

Maternal and Child Health Improvement Projects Abstract

Project Title: Massachusetts Integrated Systems for Infants and Children Project
Principal Investigator: Sally Fogerty, B.S.N., M.Ed.
Organization: Massachusetts Department of Public Health
Bureau of Family and Community Health
Address: 250 Washington Street
Boston, Massachusetts 02108
Contact Person: Sally Fogerty
Phone: 617.624.6090 Fax: 617.624.6062 E-mail/address: sally.fogerty@state.ma.us
Project period: 3 years From: 6/1/2001 to 5/31/2004


Purpose: The Massachusetts Department of Public Health Bureau of Family and Community Health (MDPH, BFCH), intends to expand its current efforts in the development and assurance of a comprehensive system of care for children with special health care needs (CSHCN), and integrate genetic services, including newborn screening, into that system. The Massachusetts Integrated Systems for Infants and Children project builds on current successful programs and initiatives, and addresses gaps in coordination and integration of these initiatives. The project will also advance current efforts to develop a comprehensive and integrated child health information system that includes data from the Electronic Birth Certificate (EBC), the New England Newborn Screening Program (NENSP), the Universal Newborn Hearing Screening Program, FIRSTLink (newborn screening and community referral system for at-risk infants), Early Intervention (Part C of IDEA), Family and Community Support for CSHCN (including care coordination and flexible financial assistance), the Massachusetts Center for Birth Defects Research and Prevention, and the Massachusetts Genetics Program. Successful implementation of the project will assist the BFCH to meet several Title V national and state performance measures and Healthy People 2010 goals relating to CSHCN and a comprehensive system of care for at-risk children birth to three.

Challenges: Massachusetts has three newborn screening systems: 1) NENSP (of the University of Massachusetts Medical School) for blood spot screening of metabolic and other disorders; 2) the Universal Newborn Hearing Screening Program (UNHSP); and FIRSTLink (EBC and community referral system for infants at risk for adverse health and developmental outcomes). FIRSTLink is not yet fully operational statewide, resulting in significant gaps in its ability to reach all potential CSHCN in the state. While the new UNHSP included linkage with FIRSTLink in its original design, with automatic referral to Early Intervention of infants diagnosed with hearing loss, there is no formal linkage of NENSP data and activities with the other newborn screening systems or with related MDPH-administered programs for CSHCN. The MDPH Center for Birth Defects Research and Prevention is a surveillance system and not linked with the newborn screening systems,. In addition, the information systems of MDPH programs that serve CSHCN have largely been developed independently from one another, for different purposes and on different platforms, limiting the ability to link their data. Genetics diagnostic centers in Massachusetts do not currently collect a uniform data set, nor is that data shared with MDPH. Addressing the complex ethical and privacy issues inherent in developing integrated data systems that include newborn screening, genetic testing, and service utilization is a significant challenge to this and related efforts nationwide. 

Goals and Objectives: The three goals of the project are to 1) Assure timely, comprehensive referral and care coordination for CSHCN, including children identified through the 3 newborn screening systems and the genetics diagnostic centers; 2) Advance the development of an integrated child health information system across all MDPH programs and medical homes of CSHCN; and 3) increase community capacity for genetics information and services, as outlined in the Massachusetts Genetics Strategic Plan for MCH/CSHCN. Objectives include: 1.1) Expand FIRSTLink to operate statewide; 1.2) Develop the mechanism to refer to CSHCN care coordinators the families of newborns diagnosed with metabolic or other disorders through newborn blood screening; 1.3) Develop the mechanism to refer to CSHCN care coordinators the families of children diagnosed with genetic disorders, and to communicate back to NENSP if MDPH becomes aware of screenable conditions not identified by NENSP; 1.4) Ensure that referral to EI is made as soon as possible after screening identifies children at risk;1.5) Strengthen the connection between FIRSTLink and the infant's medical home; 2.1) Move the NENSP to a web based system; 2.2) Establish protocols for data integration, including confidentiality, access and security issues, and modifying consent forms and procedures; 2.3) Develop the mechanism to include appropriate data from the NENSP and genetic diagnostic centers into the FIRSTLink data system; 2.4) Complete the integration of FIRSTLink and the Early Intervention Information System (EIIS); 2.5) Develop the mechanism to link the information system for practice-based care coordination for CSHCN with FIRSTLink; 2.6) Develop the system specifications and structural design for integrating all contributing data systems; 3.1) Increase the knowledge of genetics issues and resources among primary care providers and MDPH-contracted service providers; 3.2) Increase the capacity of the MDPH Division for Special Health Needs to be a resource to consumers, providers, and the general public about genetics issues and resources.

Methodology: The multiple facets of the project are interdependent, and will be implemented in a stepped progression, to allow each to be sufficiently developed individually and then to build on one another to accomplish a fully integrated system. An MDPH internal steering committee and an external advisory committee will be established to provide guidance to the project. The external committee will draw from several existing advisory committees, including genetics, CSHCN, newborn screening and hearing screening, EI, and FIRSTLink. It will include several consumer members. Careful consideration of confidentiality and privacy issues, with consent processes built in, will overlay all of the data and program integration activities. FIRSTLink will provide the core of this integrated system, with its link to the EBC and to community-based providers including primary care providers. In the first year, the FIRSTLink consent process will be expanded to be operational in all of the state's birth hospitals. The NENSP database will be web-enabled, and a referral system will implemented to connect diagnosed newborns and their families to CSHCN care coordinators. The FIRSTLink referral module will be modified, to incorporate infants identified through the NENSP and genetic diagnostic centers. A genetics counselor will be added to the staff of the BFCH Division for SHN, one aspect of whose role will be to plan and implement a series of trainings to MDPH-contracted service providers, with a special focus in the first year on the CSHCN care coordinators, EI, and FIRSTLink providers. Technical consultant(s) will be hired to determine the requirements of an integrated system, and to develop the specifications and structural design for an integrated data system. This fully integrated data system for CSHCN and at-risk infants will allow referred children to be followed over time, to assure that referrals are successful and result in the family's receiving needed services. Increased collaboration with pediatric health care providers, within FIRSTLink, the UNHSP, and CSHCN care coordination, will also be a priority. 

Evaluation: Process evaluation of the project will track and measure the successful development and implementation of each of the specific activities under each objective, within the specified timelines. Referrals to and enrollment in care coordination services and Early Intervention of infants identified through each of the newborn screening systems and the genetics diagnostic centers will be tracked, including the timing from identification (screening or diagnosis) and referral/enrollment. Outcome evaluation will focus on systems level change

Experience to date: Project proposed to begin June 2001

Annotation: The Massachusetts Department of Public Health Bureau of Family and Community Health, the Title V agency in Massachusetts, will expand its efforts in the development and assurance of a comprehensive system of care for children with special health care needs, and integrate genetic services, including newborn screening, into that system. The project will build on a number of successful programs and initiatives, and address the gaps in the coordination and integration of these initiatives. The project will also significantly advance efforts to develop a comprehensive and integrated statewide child health information system.

Key words: Children with Special Health Needs, Community Based Health Services, Community Integrated Service System, Computer Linkage, Computer Systems, Data Systems, Databases, Early Intervention, Family Support Programs, Genetic Counseling, Genetic Disorders, Genetic Screening, Genetic Services, Genetics Education, HomeVisiting Services, Newborn Screening, Parent Support Services, Specialized Child Care Services.

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Michigan 

Maternal and Child Health Improvement Projects Abstract

Principal Investigator: Janice Bach, MS, CGC
Organization: Michigan Department of Community Health
Address: 3423 N. Martin L. King, Jr. Blvd.
P. O. Box 30195
Lansing, MI 48909
Contact: Janice Bach 
Phone: (517) 335-8887 Fax: (517) 335-9419
E-mail: bachj@michigan.gov 
Project Period: 4 years From: June 1, 2002 to May 31, 2006

Purpose: The purpose of this project is to improve genetic health outcomes of Michigan residents by 1) increasing genetic literacy in general and improving access to information about services and resources for children with special health care needs; 2) promoting early identification and treatment of children with genetic conditions and linkage with systems of care; and 3) improving the integration and use of newborn screening information systems within public health programs. The project will play a key role in aligning the Michigan Newborn Screening (NBS) System with National Task Force Recommendations, and serve to implement portions of the state genetics plan developed as part of a MCHB planning grant. 

Challenges:  Although newborn screening has existed since 1965 and the Hereditary Disorders Program since 1978, staffing has been limited to just a few individuals and the program has not been integrated as fully as possible, either programmatically or through data information systems, with other child health services. A comprehensive needs assessment has identified specific strategies to improve the existing public health genetics infrastructure. The challenge now is to enhance program capacity to enable appropriate assessment, policy development and assurance in relation to the rapid advances occurring in the genetics knowledge base as well as genetic technology. Delivering information and community-based, culturally competent, comprehensive, coordinated genetic health care to Michigan's relatively large, ethnically and geographically diverse, population presents another challenge. 

Goals and Objectives: The goals of the project are to: 1) Increase genetic literacy and improve family and health care provider access to information about resources and services for children with special health care needs; 2) Expand methods of early identification of children with special health needs; and 3) Integrate newborn screening with other maternal child health data and service delivery systems to promote linkage with intervention services including the medical home. Detailed objectives and action steps have been identified for each goal, consistent with the goals of the Michigan State Genetics Plan and the intent of the MCHB/Genetic Services Branch to improve linkages between public health and personal health systems.

Methodology: The project will build on the work begun as part of the planning grant activity, using existing resources and expertise available within MDCH and partner organizations. A genetics health educator will establish and promote a central resource center and conduct outreach education in conjunction with our existing regional genetics and newborn screening medical management centers, the newborn screening nurse consultant, birth defects coordinator, and other child health programs including Children's Special Health Care Services, Early Hearing Detection and Intervention, Lead Screening, WIC, Michigan Childhood Immunization Registry, and Maternal/Infant Support Services. A genetics curriculum will be designed for training Early On and local health department staff, and newborn screening training for hospital personnel will be initiated. A newborn screening quality assurance coordinator will establish a system for long term follow-up of children identified by NBS, in order to assess health status and service utilization, including linkage with a medical home. An epidemiologist will develop methods of analyzing genetic health outcomes using available databases. A consumer/parent consultant will participate as a partner in program implementation. The program director will serve as liaison between all project activities and other relevant public health programs. The existing Genetics Advisory Committee will provide oversight and advice, and the Newborn Screening Subcommittee will play a key role in making recommendations regarding possible program expansion and implementation of national guidelines.

Evaluation: The project will be evaluated at several levels. Process evaluation will monitor completion of action steps based on the time allocation table. Outcome evaluation measures specific to each objective have been identified. Most importantly, suggested health outcome indicators have been developed and will be used, initially as a baseline, and ultimately as ongoing evaluation measures of the overall impact of the program over time. The Genetics Advisory Committee and Newborn Screening Subcommittee will provide periodic review of project activities and accomplishments. 

Experience to Date: The Hereditary Disorders and Newborn Screening Program has conducted a comprehensive needs assessment based on the Council of Regional Networks for Genetic Services (CORN) guidelines and developed a state genetics plan. The needs assessment identified available strengths and resources as well as gaps in the current public health genetics system. Information about existing data sources has been compiled and two pilot studies demonstrated the value of ongoing NBS linkage with other child data sources (birth certificates, Immunization Registry). A new NBS database is being developed and MDCH is establishing a data warehouse that will greatly facilitate data linkage and use of data for program planning and evaluation. In the course of developing the state genetics plan, numerous new contacts and partnerships were made, and these will continue to be utilized during the implementation phase.

Text of Annotation: This project will implement portions of Michigan's state genetics plan by initiating new educational activities to increase genetic literacy and awareness of available services, and by promoting early identification and treatment of children with special health care needs through the integration of NBS with other MCH data, service delivery, and education systems. 

Key Words:
Children with Special Health Needs; Data Systems; Data Analysis; Genetic Services; Genetics Education; Information Systems; Newborn Screening; State Genetics Plan

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Missouri

Maternal and Child Health Improvement Projects Abstract

Project Title: Integration of Missouri Genetics Services and Information Systems
Principal Investigator Garland Land
Program Director: Jim Jeffries
Grantee: Missouri Department of Health
Address: P O Box 570, 920 Wildwood, Jefferson City, MO 65102
Telephone Number: (573) 751-6272
Project Period: June 1, 2001-May 31, 2004
Contact Person: Garland Land (573) 751-6272 

Purpose
The purpose of this project is to develop an integrated genetics information system and improve the ability of children in the newborn screening program to receive needed medical and intervention services, including integration into Missouri's special health care needs systems of care. This project will help achieve the goal of developing a statewide surveillance system for genetics by integrating and enhancing existing surveillance systems as identified in Missouri's state plan for genetic services.

Challenges
Presently the Missouri Department of Health (DOH) does not have an integrated information system to capture newborn screening, newborn hearing screening, birth certificate or follow-up information. Because of this lack of data integration, genetics services can not be integrated with other children's services. We also are unable to evaluate the short and long term effectiveness of the genetics system in Missouri. This project is designed to implement an integrated information system for all children's services.

This project will also address the need for a comprehensive educational program on newborn screening and genetic conditions for consumers, health care providers and families of children with genetic conditions.

Goals and Objectives:
Goal A: Develop an integrated information system for children
Objective A1-Develop and implement a web-based system for capturing newborn screening (NBS) and newborn hearing screening (NBHS) data (January 1, 2002)
Objective A2-Develop and implement an integrated NBS and NBHS information system with the capability of providers obtaining client information electronically. (January 1, 2002)
Objective A3-Integrate NBS and NBHS information with other child information on immunizations, lead screening, children with Special Health Care Needs (SHCN) participation, Medicaid and WIC (May 31, 2003)
Objective A4-Develop web-based birth certificate system that is integrated with NBS and NBHS data (January 1, 2003)
Objective A5-Integrate genetics tertiary care center information and NBS follow-up information (May 31, 2004)

Goal B: Evaluate and improve upon the ability of children in the newborn screening programs to receive needed medical and intervention services.
Objective B1-Develop and implement a case management information system for NBS and NBHS (January 1, 2002)
Objective B2-Develop an information system to obtain outcome information on children with sickle cell disease (July 1, 2003)
Objective B3-Develop, define and report on newborn screening process measures 
(May 31, 2003)
Objective B4-Develop, define and report on newborn screening outcome measures 
(May 31, 2003)
Objective B5-Develop, define and report on newborn screening performance measures for children with Medicaid (May 31, 2003)
Objective B6-Develop and implement a comprehensive educational program for newborn screening and genetic conditions (May 31, 2004)

Methodology
This project will expand upon the development of MOHSAIC, which is the DOH's integrated information system. A web-based newborn metabolic and hearing screening information system will be developed and linked with MOHSAIC. The case management component of MOHSAIC will be expanded to capture follow-up information on children with genetic conditions.

A comprehensive education program regarding newborn screening and genetic conditions will be developed. This program will target parents of newborns, health care institutions participating with newborn screening, families of children with genetic conditions, service coordinators within the DOH Bureau of Special Health Care Needs, staff in genetic tertiary centers and the general public.

Process and outcome measures for the genetics system will be developed. Reports will be prepared based upon the performance measures to evaluate the Missouri genetics system.

Evaluation
First a process evaluation will be conducted to determine if the objectives have been met according to the target dates established. The performance measures, developed as part of the project, will allow us to determine if the services and health of children with genetic conditions have improved.

Experience To Date
The DOH has a strategic plan for an integrated information system. Much of the system for children has already been completed or will be completed in calendar year 2001 including an immunization register, care coordination component and blood lead level reporting. The DOH has a $4.3 million budget to support a full complement of genetic services.

Text of Annotation
This project will develop an integrated genetics information system to improve the ability of children in the NBS program to receive needed medical and intervention services. Performance measures will be developed to evaluate the genetics system. Training and educational materials will be developed to assist providers and families.

Key Words
Newborn screening, information systems, genetic services, professional education in genetics

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Oklahoma

Maternal and Child Health Improvement Projects Abstract

Project Title: Oklahoma Genetic Services - Improving Health of Children: Implementation of the State Grants for the Integration of Programs and Their Information Systems 
Project number: CFDA #93.110A
Principle Investigator/Program Director: Edd D. Rhoades, M.D., M.P.H.
Organization: Oklahoma State Department of Health 
Address: 1000 NE 10th Street, Oklahoma City, OK 73117-1299
Contact Person: Pam King, M.P.A., R.N.
Phone: (405) 271-6617
Fax: (405) 271-4892 E-mail: pamk@health.state.ok.us
World wide web: www.health.state.ok.us/program/gp
Project Period: 4 Years From: June 1, 2002 to May 31, 2006

NARRATIVE

Purpose: This project will establish a public health genetics infrastructure with the capacity to plan, implement, monitor and evaluate genetics by facilitating the implementation of the Oklahoma State Genetics Plan and Data Integration Plan for a child health information system. For systems development, this project focuses on children with special health care needs identified through newborn screening programs and with genetic disorders to ensure medical homes, as defined by the American Academy of Pediatrics (Pediatrics 1992), are established and linked to service systems that promote optimal health and meet the Healthy People 2010 Express goals (HRSA 2001). 

Challenges: The statewide genetic needs assessment process identified seven priority areas for action: (1) create a sustainable public health genetic infrastructure to plan, implement, monitor and evaluate genetics, (2) develop a quality assurance program for the Newborn Screening Programs (metabolic and hearing), (3) implement the data integration plan for a child health information system, (4) expand the Newborn Metabolic Disorder Screening Program (NMDSP) for additional genetic disorders, (5) expand the newborn screening programs services to include long-term follow-up, including transitions services for adolescents, (6) ensure access to quality local genetic clinical and genetic testing services, and (7) develop a coordinated statewide public and provider genetic education campaign (equating education with access). To address these challenges the State Genetics Plan was developed in collaboration with the Oklahoma Genetics Advisory Council (OGAC) and its committees. The Plan's mission is to "prevent morbidity and mortality among individuals and families with or at risk of genetic, congenital, and/or familial disorders by assuring that all Oklahomans have access to quality screening, education, and family-centered comprehensive services." The goals and objectives of the State Genetics Plan will be utilized for this project; however, not all the Plan's activities for the goals and objectives will be accomplished through this project. 

Goals, and Objectives:
Long-term goal: Assure quality genetic services are available and accessible to Oklahomans. 

Short-term Goal 1. Educate providers, policy makers, insurance providers, medical/health career students, the public, affected families, and university and high school students regarding genomics, local genetic resources, genetic services (availability, access, indications, and benefit) and the process to refer for genetic services. 
This project's core components:
- Hire a State Genetics Education Coordinator to establish a comprehensive genetics education program for the Screening and Special Services (SSS), including newborn screening programs, to include a resource center, education campaign, and to maximize genetic education opportunities in the state through collaboration and coordination activities. 

Short-term Goal 2. To assure an infrastructure exists to plan, implement, monitor and evaluate genetics in Oklahoma, the OSDH will develop a sustainable public health genetics program by assuring a collaborative culturally diverse program that links with community partners, addresses health disparities, and maintains the Oklahoma Genetics Advisory Council. 
This project's core components:
- Maintain a full-time State Genetics Coordinator and develop infrastructure capacity. 
- Maintain a diverse OGAC and its committees, and establish a Family Advisory Committee of OGAC. 
- Establish system linkages to better serve children with special health care needs through data integration projects, including a child health profile, collaboration, and coordination activities.

Short-term Goal 3. Ensure the availability of quality genetic testing, public health screening and surveillance programs to serve an informed public. 
This project's core components:
- Establish a Quality Assurance Program for newborn screening programs (hearing and metabolic).
- Establish a Long-term Follow-up Program for the Newborn Metabolic Disorder Screening Program. 
- Establish an Adult Transition Program for the Newborn Metabolic Disorder Screening Program.

Short-term Goal 4. Ensure the public health genetics program effectively and efficiently achieves stated goals and mission through on-going program evaluation and quality improvement process.
This project's core components:
- Establish an on-going comprehensive evaluation program.

Methodology: Project goals and objectives will be achieved by maintaining a full-time State Genetics Coordinator, hiring a full-time State Genetics Education Coordinator, through three collaborative contracts with the University of Oklahoma Health Sciences Center, utilization of OSDH Screening and Special Services coordinators, collaboration with Children with Special Health Care Needs (CSHCN) program staff, and use of OGAC and its committees. 

Evaluation: To determine efficiency and effectiveness of the State Genetics Plan and this project, project funds have been allocated to establish an evaluation program The evaluation program will develop logic models for monitoring process and outcomes, including the performance measures of Title V, and 2010 Express (HRSA 2001). 

Text of Annotation: The purpose of this project is to reduce morbidity and mortality by developing a public health genetics infrastructure capacity, including data integration, around the newborn heelstick/metabolic screening program. This project will include a QA Program, short-term, long-term, and transition services for newborn screening programs, a statewide genetics education program, coordination and collaboration activities that are demonstrated effective through ongoing evaluation and quality improvement. 

Key Words: State Genetics Plan, children with special health care needs, newborn screening, Data Integration Plan, child health profile, medical home, Oklahoma Genetics Advisory Council, education, 2010 Express.

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Rhode Island

Maternal and Child Health Improvement Projects Abstract

Project Title: Expanding newborn screening and genetics infrastructure in Rhode Island 
Principal Investigator: Peter R. Simon, M.D, M.P.H.
Rhode Island Department of Health
3 Capitol Hill
Providence, RI 02908
Contact Person: Ellen Amore, MS Telephone: 401-222-4601
Fax number: 401-222-1442 Email address: ellena@doh.state.ri.us
Project Period: 3 years From: 6/1/2001-5/31/2004

Purpose: The purpose of this project is to allow RI to achieve national objectives by assuring that a community based, family centered and culturally competent, seamless system of care exists to screen children early and continuously for special needs, and provide ongoing comprehensive care within the medical home including coordination with specialty services for diagnosis and treatment. The purpose of this grant is also to build state capacity for current and impending genetics services, including the integration of information systems to assure quality and completeness. This proposal will build upon work already initiated during an MCHB Genetics planning grant, especially as it relates to newborn screening and data integration.

Challenges: The biggest challenge facing this project is the rapid advancement and changes taking place in genetic technology and policy making. In addition, health care is delivered through community health centers and private practitioners with no single way to help families navigate through the CSHCN system. Receiving, sharing, matching and coordinating data among the many and varied entities is a significant challenge as well. 

Goals and Objectives: The goals for this project focus on assuring identification of all children with genetic conditions and access to a medical home which coordinates primary and specialty care, improving vehicles for informing parents and professionals about genetic risks and tests, and strengthening HEALTH's ability to respond to existing and evolving genetics issues. Specific objectives include integrating heelstick results into KIDSNET, streamlining data entry of newborn screening programs, increasing provider participation in KIDSNET, shared data among providers, families and support services, coordinating the birth defects surveillance system with KIDSNET, capture of final diagnosis on newborns with positive screens, establishing procedures that assure all newborns receive newborn screening services, implementation of a newborn screening quality improvement plan, informing new and expectant parents and professionals about newborn screening and genetic services, involving more consumers in genetics planning activities, coordinating genetics activities within HEATLH, and developing and implementing procedures to respond to recommendations for expanded testing.

Methods: Activities already underway as a result of the genetics planning grant include importing heelstick results into KIDSNET, using a new vital records information system as data collection tool for multiple newborn screening programs, and marketing KIDSNET to Primary Care Providers (PCPs) using a provider liaison. New activities will include forming a workgroup on data sharing and coordinating care, establishing procedures for reporting final diagnosis on positive newborn screens, running KIDSNET reports to identify babies who do not have a heelstick, hearing, or developmental risk assessment result, hiring a management level staff person to establish a quality improvement process, working with parents to better inform parents about newborn screening services, recruiting and training consumers to participate in the Genetics Advisory Committee, incorporating sessions about newborn screening and genetic issues at professional association meetings and other educational opportunities, and hiring a genetics administrative assistant to help support various genetic committee efforts within HEALTH. The genetics planning grant project coordinator will continue to consult with HEALTH on implementing the state genetics plan.

Evaluation: Evaluation strategies for process objectives include demonstration of successful computer programming for newborn screening data integration efforts and capture of final diagnosis, elimination of redundant data entry, documentation of workgroup progress and CQI development through meeting minutes, formal reports, and written plans, and pre- and post- implementation surveys using PRAMS and parent consultants, and focus group reports. Evaluation of outcome measures include reduction in file transfers, shorter matching error reports, increase in primary care participation in KIDSNET, percent of children receiving newborn screening at birth, percent of children identified with a genetic condition for whom final diagnosis is known and who are linked to a medical home, trends in CQI data, and % of parent participation in advisory roles and related activities.

Experience To Date: HEALTH has established a Genetics Screening Advisory Committee and an internal coordinating mechanism (Genetics Core Team) to help implement its state genetics plan. KIDSNET, HEALTH's integrated pediatric public health tracking system links data from 8 programs and makes it available on line to primary care providers. To facilitate program and policy development, HEALTH has been reorganized by consolidating management of all newborn screening programs under one program manager and within the same office as KIDSNET.

Text of Annotation: This project will build state capacity to respond to the challenges of rapid advancement in genetic technology and policy making, a CSHCN system of private providers and community health centers with no administrative or information connections to the Department of Health, and complex data integration needs. It will also improve quality and completeness of current and impending genetics services, including newborn screening, and assure participation in a medical home. This will be accomplished by integrating newborn screening activities around data collection, parental informing, information systems, and quality assurance. Increased consumer input and participation will help inform the process.

Key Words: Children with Special Health Needs, Computer Systems, Data Systems, Developmental Screening, Early Intervention, Family Professional Collaboration, Genetic Screening, Genetic Services, Hearing Screening, Information Systems, Medical Home, Newborn Screening, Preventive Health Care, Provider Participation, Quality Assurance

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Utah

Maternal and Child Health Improvement Projects Abstract

Project Title: The Utah Genetics Implementation Project (UGIP)
Co-Principal Investigators: Dr. Vera F. Tait and Ms. Lynn Martinez
Organization: The Utah Department of Health, Children with Special Health Care Needs Bureau
Address: CSHCN Bureau, Teratology & Birth Defects
PO Box 144691
Salt Lake City, UT 84114-4691
Contact person: Ms. Lynn Martinez
Phone: (801) 582-6779
Fax: (801) 584-8488 Email: lmartine@doh.state.ut.us
Project Period: Four Years From: 6/1/2002 To: 5/31/2006

NARRATIVE 

Purpose:
The purpose of the Utah Genetics Implementation Project (UGIP) is to ensure that appropriate newborn conditions are screened in Utah, and to provide an enhanced system of care for Children with Special Health Care Needs (CSHCN) with these conditions through data integration, medical homes, and, when appropriate, early intervention.

Challenges:
The Project will address challenges and needs that have been identified both locally and nationally. Three data sets exist within the Utah Dept of Health (UDOH) under statutory authority to collect information on all Utah newborns: Birth Registration, Newborn Blood Screening, and Newborn Hearing Screening. Much of the effort in the collection of this information is duplicated at various levels. This duplication has created unnecessary redundancy of information collection across the data sets. Some of the information presently collected for newborn blood and hearing screening is cutilized as a method for identification of the need for early intervention services for families of children with genetic conditions and special health care needs. However, access to this information is not effectively provided to private sector primary care providers, early intervention providers, nor to families in need of these services.
Primary care practitioners (PCPs) face common challenges: accessing current medical knowledge about the many uncommon conditions found in CSHCN; having time to assess the needs and problems of patients with chronic conditions; coordinating the array of professionals and services needed; and trying to provide this level of care without adequate reimbursement. 
Additionally, the Genetic Services/Data Integration Planning Project, which will be completed in May of this year (2002), identified an area of need regarding newborn screening issues. No formal, institutionalized system exists for managing the screens in the Newborn Blood Screening (NBS) panel. When a request to add or change a screening test is submitted to the Utah Department of Health (UDOH), NBS simply convenes an ad hoc committee to review the request. These requests have been infrequent, making this ad hoc approach feasible. However, in the past few years such requests have increased and pressure to add screens has become more intense.

Goals and Objectives:
Goal A: Improve newborn screening and follow-up through integration and enhanced data sharing.
Objective 1: Assist birthing hospitals statewide improve newborn screening
effectiveness by implementing a shared Birth Record Number (BRN) 
process.
Objective 2: Assist UDOH programs in providing coordinated patient-centered care by using the shared BRN and by integrating the NBS system into CHARM, the UDOH integration initiative.
Objective 3: Assist private providers and Medical Homes to provide more coordinated care to children by enabling timely access to NBS results.
Goal B: Promote and enhance the medical homes for the families of children with conditions screened by the state's NBS Program.
Objective 1: Collaborate with the existing state medical home grant (Utah Collaborative Medical Home Project) to continue to educate families, primary care providers, and nurses about the Medical Home concept.
Objective 2: Develop web-based best practice modules on conditions included in the state newborn blood screening.
Objective 3: Develop and disseminate information to Medical Homes about genetic issues such as resources, privacy and confidentiality, counseling, and genetic testing.
Objective 4: Partner with the Utah Collaborative Medical Home Project in the development of the transition component of the website. 
Goal C: Ensure all Utah children are screened for appropriate newborn conditions. 
Objective 1: Re-engineer and formalize the process for managing the state's newborn screening panel.
Objective 2: Develop a structured and realistic basis for the ongoing pricing needed to sustain an evolving newborn screening panel.

Methodology:
A single, shared Birth Record Number (BRN) will be assigned to the NBS cards in all 41 birthing 
hospitals in the state. This BRN will be shared across the birth certificate and the two newborn screening (blood and hearing) programs. The UGIP Nurse will train and support hospital staff. The Nurse, Family Advocate, Genetic Advisory Committee and contractor will develop educational materials regarding the conditions screened on the NBS panel, as well as about genetic issues and available resources for families and Medical Home providers. The Standing Committee on Population Screening will develop a Population Screening Management System to set criteria for adding, changing, replacing or deleting screens from the NBS panel. A cost analysis of the NBS will also be conducted in order to better assess the added costs of new screens.

Evaluation:
The evaluation of the UGI Project will be accomplished on several levels. At the most basic level, the Project Coordinator, the Administrative Team and the UDOH Grants Oversight Team (GOT) will ensure the objectives and activities are addressed in a timely and appropriate manner. In addition, at the monthly Administrative Team meetings, the members of the team will monitor the efficiency and effectiveness of the project activities with adjustments made as necessary. The GAC will receive quarterly reports from the Project Coordinator and will be involved in the decisions should changes in proposed activities be thought necessary. The GOT will assure collaboration among the UDOH grants. In the Qualitative and Quantitative Work Matrix, an indicator and outcome/product follow each activity. The Administrative Team will provide this critical piece of evaluation with reports to the GOT and GAC on a quarterly basis. At a more global level, health indicators of children identified by NBS will be monitored by the UDOH Center for Health Data.

Experience to Date:
The Child and Family Health Services Division which houses the CSHCN Bureau and UGIP has joined with the Executive Director's Office and the Immunizations Program in developing a data integration initiative known as the Child Health Advanced Records Management (CHARM) Team. A pilot of the shared BRN was accomplished in 2001and had remarkable success. The CSHCN Bureau Director and UGIP Project Director is also Co-PI on Utah's Medical Home Demonstration Grant. One of the three major components of this grant was the development of a web-based Medical Home resource to facilitate access to information about the Medical Home and family-centered care, medical literature on chronic conditions, practice guidelines, and information and links for a broad range of resources. The Website is already developed and information regarding newborn screening and genetic screening, privacy and other issues related to UGIP will be added when it is developed. 

Text of Annotation:
The UGIP will facilitate collaboration with UDOH programs, community advocacy groups and other stakeholders to develop a shared BRN among newborn screening programs and birth certificates as well as enable development of educational projects and materials regarding Medical Homes for children with genetic conditions. The UGIP with also enable the development of a formal, institutionalized system for adding, changing or replacing screens on the NBS panel. 

Key Words:
Access to Health Care, Advocacy, Children with Special Health Needs, Community Based Health Services, Computer Systems, Cutural Sensitivity, Data Systems, Family Support Services, Families, Genetic Screening, Genetics Education, Newborn Screening, Patient Education, Professional Education in Genetics, Public Policy. 

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Washington

Maternal and Child Health Improvement Projects Abstract

Project Title: Improving the Health of Children by Implementing the Washington State Genetics Plan
Principal Investigator: Debra Lochner Doyle, MS, CGC
Organization: Washington State Department of Health, Genetic Services Section 
Address: 20435 72nd Ave. S., Suite #20, MS K17-8 Kent, WA 98032 
Contact Person: Angela Gibson, MS 
Phone: 253-395-6744 
Fax: 253-395-6737 
E-mail/address: Angela.Gibson@doh.wa.gov <mailto:Angela.Gibson@doh.wa.gov> 
Project period: 6-1-2002 through 5-31-2006

Purpose: Like many states, public health genetics in Washington began with newborn screening (NBS). Since the initiation and completion of the Human Genome Project, the public health system, including the NBS program, finds itself trying to anticipate how to best take advantage of the emerging science and technologies as well as deal with the economic, and social impacts (including legal and ethical) using limited resources. To best direct these resources, a State Genetics Plan was developed for Washington State. The four priority areas identified include: (1) Coordination and Coverage of Services, (2) Access to Quality Services, (3) Confidentiality/ Genetic Discrimination, and (4) Raising Awareness of Genetic and Disability Issues. The purpose of this project is to begin implementing the State Genetics Plan. Implementation of the State Genetics Plan will ultimately facilitate the integration of genetic services, including newborn hearing screening and newborn heel stick screening, into the existing statewide healthcare delivery system as well as the service system focused on children with special health care needs. 

Challenges: Washington is a large state with increasing diversity and often fragmented and unequal distribution of services and resources. For this reason, the State Genetics Plan was intentionally designed to address broad issues, as opposed to focusing on a single issue (e.g. cancer) or single population such as newborns. The intent is that through accomplishing activities that address each of the priority areas, all residents will benefit, including newborns and children with special health care needs.

Goals and Objectives: For this project, the primary goals are to: (a) improve data capacity by exploring the feasibility of integrating, sharing, and linking child-related databases including NBS and Early Hearing-loss Detection Diagnosis and Intervention (EHDDI), (b) improve rural access to Medical Homes for all infants, identified through the NBS as well as children seen through the Regional Genetic Clinics (RGCs) across the state, (c) improve the willingness and ability of healthcare providers to provide clinical genetic services including NBS, while increasing the knowledge about the advancements in genetics, community awareness, and what DOH is doing to address these issues, (d) improve linkages between consumers and healthcare providers by assessing and increasing the scientific literacy of the public and their knowledge of the societal impacts of the human genome project, and (e) by increasing the infrastructure of the RGCs to allow for increased access especially in rural areas by initiating telemedicine consultation.

In combination, these activities will enhance service delivery by improving linkages between public health, personal health systems (health and social services) and consumers, and will promote early identification of heritable conditions, and development of community-based, comprehensive, coordinated, culturally competent, and family centered care

Methodology: The project activities are varied but generally fall into activities related to data linkage and integration or education and quality issues. The improve data integration, a catalogue of all data sets inclusive of child related data will be developed. Managers of those datasets will participate on a "data team" to explore the benefits and barriers to data linkage and/or data sharing and prepare a report documenting the feasibility of linking one or more systems. 

The educational/quality activities are targeting primarily health care practitioners and the general public. Educational materials will be developed and distributed to providers who will be surveyed later to determine the usefulness of the materials provided. In addition, focus groups of five subspecialty groups (primary care, neurology, endocrinology, oncology and psychiatry) will be conducted to further identify needs for these providers. For the general public, a series of 15-25 Community Front Porch forums, (general public dialogues on specified topics) will be conducted with the emerging discussions and experiences published in community newspapers around the state. 

To improve access to, and quality of services, a study to evaluate the effectiveness of practice care guidelines developed for genetic services will be initiated, and a plan for initiating telemedicine for genetic services will be developed with telegenetics consults to begin in the second year of the project.

Evaluation: In order to evaluate the effectiveness of these activities, process and outcome evaluations will be conducted. The process evaluation will consist of monitoring the extent to which activities are being done on time, their degree of completeness, and the quality of work performed. The outcome evaluation will consist of determining whether the activities undertaken have affected outcomes with regards to the goals stated in this proposal.

Experience to Date: This project will be administered by the Genetic Services Section (GSS) within the Office of Maternal and Child Health (MCH), Division of Community and Family Health (CFH) in the Washington State Department of Health (DOH). GSS was among the first states to develop a State Genetics Plan and has a long track record of working with the Health Resources Services Administration on public health genetics related projects. These include two HRSA Special Projects of Regional & National Significance (SPRANS) one entitled Genetics Education Project for Primary Care Providers, "Genetics & Your Practice" (1994 - 1998), and the other entitled The Partner's Forum: A Washington State Model for Ensuring Access to Quality Genetic Services for Persons in Managed Care (1997 - 2000)

Text of annotation: Needs assessment activities performed in Washington over the past few years have clearly identified four significant areas of concern regarding genetics - (1) Coordination and Coverage of Services, (2) Access to Quality Services, (3) Confidentiality/ Genetic Discrimination, and (4) Raising Awareness of Genetic and Disability Issues. In response to these issues, a State Genetics Plan was developed. Through this state plan implementation project, a data integration feasibility study will be performed to include all data sets that include child related data. In addition, the public will become engaged in thoughtful dialogues about genetics issues that will be published in local community newspapers, health care providers will be provided with genetics educational resources, and a mechanism for initiating telemedicine genetic consults will be initiated.

Key Words: State Genetics Plan, Genetic Services Section, Newborn Screening

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