Marie Y. Mann

Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary

The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified 29 conditions for which screening should be mandated. An additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance. The process of identification is described, and recommendations are provided.

Current Status of Transition Preparation Among Youth With Special Needs in the United States

OBJECTIVE: To examine current US performance on transition from pediatric to adult health care and discuss strategies for improvement. METHODS: The 2009–2010 National Survey of Children with Special Health Care Needs is a nationally representative sample with 17 114 parent respondents who have youth with special health care needs (YSHCN) ages 12 and 18. They are asked about transition to an adult provider, changing health care needs, increasing responsibility for health care needs, and maintaining insurance coverage. We analyzed the association of selected characteristics with successful transition preparation. RESULTS: Overall, 40% of YSHCN meet the national transition core outcome. Several factors are associated with transition preparation, including female gender; younger age; white race; non-Hispanic ethnicity; income ≥400% of poverty; little or no impact of condition on activities; having a condition other than an emotional, behavioral, or developmental condition; having a medical home; and being privately insured. CONCLUSIONS: Most YSHCN are not receiving needed transition preparation. Although most providers are encouraging YSHCN to assume responsibility for their own health, far fewer are discussing transfer to an adult provider and insurance continuity. Although changes in sample design limit trend analysis, there have been no discernible improvements since this transition outcome was measured in the 2005–2006 National Survey of Children with Special Health Care Needs. The 2011 release of the American Academy of Pediatrics/American Academy of Family Physicians/American College of Physicians clinical recommendations on transition, new transition tools, and the spread of medical home should stimulate future improvements in transition performance.

Access to the Medical Home: New Findings From the 2005-2006 National Survey of Children With Special Health Care Needs

OBJECTIVE. This article reports new findings from the 2005–2006 National Survey of Children with Special Health Care Needs (NS-CSHCN) regarding parental perceptions of the extent to which children with special health care needs (CSHCN) have access to a medical home. METHODS. Five criteria were analyzed to describe the extent to which CSHCN receive care characteristic of the medical home concept. Data on 40840 children included in the NS-CSHCN were used to assess the presence of a medical home, as indicated by achieving each of the 5 criteria. RESULTS. Results of the survey indicate that (1) approximately one half of CSHCN receive care that meets all 5 criteria established for a medical home; (2) access to a medical home is affected significantly by race/ethnicity, income, health insurance status, and severity of the childs condition; (3) parents of children who do have a medical home report significantly less delayed or forgone care and significantly fewer unmet needs for health care and family support services; and (4) limited improvements have occurred since success rates were first measured by using the 2001 NS-CSHCN. CONCLUSIONS. The findings suggest that, although some components of the medical home concept have been achieved for most CSHCN, care synonymous with the principles underlying the medical home is not yet in place for a significant number of CSHCN and their families.

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed.

Patient- and Family-Centered Care Coordination: A Framework for Integrating Care for Children and Youth Across Multiple Systems

Understanding a care coordination framework, its functions, and its effects on children and families is critical for patients and families themselves, as well as for pediatricians, pediatric medical subspecialists/surgical specialists, and anyone providing services to children and families. Care coordination is an essential element of a transformed American health care delivery system that emphasizes optimal quality and cost outcomes, addresses family-centered care, and calls for partnership across various settings and communities. High-quality, cost-effective health care requires that the delivery system include elements for the provision of services supporting the coordination of care across settings and professionals. This requirement of supporting coordination of care is generally true for health systems providing care for all children and youth but especially for those with special health care needs. At the foundation of an efficient and effective system of care delivery is the patient-/family-centered medical home. From its inception, the medical home has had care coordination as a core element. In general, optimal outcomes for children and youth, especially those with special health care needs, require interfacing among multiple care systems and individuals, including the following: medical, social, and behavioral professionals; the educational system; payers; medical equipment providers; home care agencies; advocacy groups; needed supportive therapies/services; and families. Coordination of care across settings permits an integration of services that is centered on the comprehensive needs of the patient and family, leading to decreased health care costs, reduction in fragmented care, and improvement in the patient/family experience of care.

American Academy of Pediatrics Newborn Screening Task Force Recommendations: How Far Have We Come?

The partnership of the Health Resources and Services Administration (HRSA)/Maternal and Child Health Bureau (MCHB) and the American Academy of Pediatrics (AAP) for improving health care for all children has long been recognized. In 1998, the establishment of the Newborn Screening Task Force marked a major initiative in addressing the needs of the newborn screening system. At the request of HRSA/MCHB, the AAP convened the task force to ensure that pediatric clinicians assumed a leadership role in examining the totality of the newborn screening system, including the necessary linkage to medical homes. The task forces report, published in 2000, outlined major recommendations for federal, state, and other national partners in addressing the identified barriers and needed enhancements of the care delivery system. Today, manifestations of the task forces recommendations are evident, many of which occurred under the leadership of HRSA/MCHB and the AAP. These activities are detailed in this article, with a discussion of future progression toward a quality, consistent, coordinated system of care for children identified with positive newborn screening results, their families, and the child health professionals who care for them.

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on IEM and provide necessary resources for researchers, we are providing: tabulation of ten-year state NBS data for selected IEM detected through NBS; costs of medical foods used in the management of IEM; and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM. The calculated IEM incidences are based on analyses of ten-year data (2001-2011) from the National Newborn Screening Information System (NNSIS). Costs to feed an average person with an IEM were approximated by determining costs to feed an individual with an IEM, minus the annual expenditure for food for an individual without an IEM. Both the incidence and costs of nutritional intervention data will be useful in future research concerning the impact of IEM disorders on families, individuals and society.

Newborn screening for sickle cell diseases in the United States: A review of data spanning 2 decades

UNLABELLED Sickle cell disease is a group of disorders, the majority of which are detected through state newborn screening programs. There is limited knowledge of disease prevalence in the U.S. POPULATION We report 20 years of case finding and laboratory data for sickle cell disease and trait to assist in: planning for health services delivery; providing data for researchers; aiding in tracking health outcome trends; and assessing sickle gene prevalence in the newborn population. During the 20-year period, there were 39,422 confirmed cases of sickle cell disease among 76,527,627 newborn births screened (1:1941) and 1,107,875 laboratory reports of probable sickle trait among 73,951,175 newborn births screened (1:67). The highest sickle cell disease incidence during the 20 years was in the District of Columbia (1:437) followed by Mississippi (1:683) and South Carolina (1:771). For sickle cell trait, the highest incidences were in the District of Columbia (1:22), Mississippi (1:26), and South Carolina (1:31).

Enhancing Communication in the 21st Century

Quality communication is a critical component in all aspects of public health and clinical care. The quality of the process of communication between the patient/family and the physician affects the quality of the patient/family-physician relationship, patient behavior, and health outcomes. Advances in communication and information technologies can enhance the quality of communication, not only between patients/families and their physicians but also between clinicians and public health professionals. Communication and integration between the domains of personal health and public health have the potential to improve the delivery of health care and public health services and to yield the desired seamless continuum of health care. This article discusses some of the advances and efforts in the use of information technology to facilitate enhanced communication for quality health care.

Financing state newborn screening programs: sources and uses of funds.

BACKGROUND. Financing for newborn screening is different from virtually all other public health programs. All except 5 screening programs collect fees as the primary source of program funding. A fee-based approach to financing newborn screening has been adopted by most states, to ensure consistent funding for this critical public health activity. METHODS. Two types of data are reported here, ie, primary data from a survey of 37 state public health agencies and findings from exploratory case studies from 7 states. RESULTS. Most of the programs that participated in this survey (73%) reported that their newborn screening funding increased between 2002 and 2005, typically through increased fees and to a lesser extent through Medicaid, Title V Maternal and Child Health Services Block Grant, and state general revenue funding. All of the responding states that collect fees (n = 31) use such funds to support laboratory expenses, and most (70%) finance short-term follow-up services and program management. Nearly one half (47%) finance longer-term follow-up services, case management, or family support beyond diagnosis. Other states (43%) finance genetic or nutritional counseling and formula foods or treatment. CONCLUSIONS. Regardless of the source of funds, the available evidence indicates that states are committed to maintaining their programs and securing the necessary financing for the initial screening through diagnosis. Use of federal funding is currently limited; however, pressure to provide dedicated federal funding would likely increase if national recommendations for a uniform newborn screening panel were issued.