15th Annual Metabolic Camp- 2009 15th Annual Metabolic Camp
June 22-27, 2009
Emory University
The Metabolic Camp offers a unique opportunity for young… November 21st, 2008
A NBS system that operates between an established public health infrastructure and a follow-up infrastructure includes seven basic functions: education, screening, follow-up, confirmatory testing and diagnosis, treatment/management, outcome assessment, and system quality assurance. The Southeast Genetics Collaborative conducted a regional needs assessment that revealed several gaps in the functioning of the NBS system and the degree to which each system addressed the seven NBS system functions. The results demonstrated the uniqueness of each state’s NBS system, reflecting differences in public health infrastructure, financing mechanisms, and various statutory requirements defining the scope of mandated service. Inequities among states in their long-term management of disorders detected by NBS are extensive and the disparities are further exacerbated by the expansion of diagnosis and a lack of available information and training. In addition, there were significant gaps related to lack of education, poor transitioning from pediatric to adult care, and under-use of primary medical care decreased quality of life for sickle cell patients.
Overall, these gaps have underscored the need for initiatives to support NBS follow-up and management. This proposal addresses these needs under Regional Collaborative Priority Activity 2, with an emphasis on Project Foci iii. The scope of project activities will include: evaluation of the capacity and performance of long-term follow-up systems, development of a regional database for all analytes and treatment strategies of positive screens, and analyses of positive-screen outcomes to improve management practices and ameliorate inequities. Outcomes will include developing and sharing standards of practice, as well as educational programs for health-care providers.
The uniqueness of each state’s NBS program has resulted in disjointed programs throughout the country.Variability in the number of conditions screened for by TMS perpetuates this disconnectedness. “Border babies,” infants born in one state but living in a bordering state, further complicate this picture with their increased risk of inadequate follow-up for appropriate interventions. To address the concerns these babies raise is a direct focus of this project and coincides with the recently issued report from HRSA’s Maternal and Child Health Bureau (MCHB) and the AmericanCollege of Medical Genetics (ACMG) entitled Newborn Screening: Toward a Uniform Screening Panel and System. Harmonization of screening and information exchange related to treatment methods among states in Southeast Genetics and beyond will provide appropriate follow-up and will ensure continuity via a shared Southeast Genetics database as the preferred contingency resource during an emergency.
Establishing a successful management program requires effective communication with the medical home and the short-term follow-up team, well-trained health-care team members, and rapid access to clinical information and resources. Efficient systems will result in early treatment that in turn can prevent negative and irreversible health outcomes for affected newborns. Regional information sharing will allow the accumulation of evidence for utilization and treatment recommendations, ultimately resulting in favorable affects on affected babies’ health. The goals of this management approach include better control of disease progression, fewer hospitalizations and emergency room visits, and improved quality of life for patients and families. These goals also reflect our regional commitment to address HRSA’s objective of supporting NBS and the research that leads to more efficient ways of bringing medical services and interventions to children. Our aims are in line with Healthy People 2010 objectives and the Title V Block Grant Program, which strives to assure that all screen-positive newborns receive timely follow-up to definitive diagnosis and clinical management for condition(s) mandated by their state-sponsored NBS. Evaluating and developing management and practice models for greater standardization will address these important public health objectives.
Membership
Rani Singh, PhD, RD, Chair
Lane Rutledge, PhD, Co-chair
Goals and Objectives
Goal 1: Development and use of an information system that will include a database to track patient and disease-oriented outcomes detected through TMS, within five or more selected states in Southeast Genetics, by collaboration with Public Health Informatics Institute.
Objective 1: Develop and define goals for the system and establish performance metrics that relate information system use for increasing efficiency and evaluating outcomes of the NBS system for conditions screened by TMS.
Objective 2: Develop and implement an information system that will provide easy access to a database for all the diagnosed cases screened positive by TMS, within seven or more states in Southeast Genetics. The database will include genotypes, biochemical markers, diagnostic workups, etc., for tracking performance indicators over time to yield measurable outcomes.
Goal 2: Improve NBS treatment and long-term management in Southeast Genetics by creating an inventory of current disease-specific management strategies to develop evidence-based best practice models for improving both survival rates and outcomes, while optimizing quality of life for all newborns diagnosed with any condition screened for by TMS.
Objective 1: Assess NBS treatment and management practices in Southeast Genetics for conditions screened by TMS and, in collaboration with Mountain States RC, compare this performance with other regions. The information from our region will be integrated with Mountain States’ care plans.
Objective 2: Develop nutrition practice guidelines for each disorder, beginning with one from each of the three disorder categories as defined by the ACMG/HRSA panel: amino acidopathies, fatty acid oxidation disorders, and organic acidemias; in collaboration with at least three experts from outside the region.
Goal 3: Development and use of an information system that will serve as a resource for practitioners and families with disorders diagnosed by TMS in Southeast Genetics.
Objective 1: Create an evidence-based library related to management of each disease by reviewing the literature and developing a detailed inventory of all published articles.
Objective 2: Create an inventory of existing materials for parents and offer links to reliable sites.
