The current status of EHDI programs in the United States

The importance of identifying congenital hearing loss during the first few months of life has been recognized for almost 60 years. Unfortunately, until more effective newborn hearing screening equipment and procedures were developed in the late 1980s, it was not practical to implement programs for identifying hearing loss during the first few months of life. This paper reviews the activities implemented by the federal government in the last 15 years to promote more effective Early Hearing Detection and Intervention (EHDI) programs, and summarizes legislation passed by states related to universal newborn hearing screening. In surveys conducted in 1998 and 2001, State EHDI Coordinators were asked to rate the degree to which various issues were obstacles to implementing effective EHDI programs. The most serious obstacles are the shortage of qualified pediatric audiologists, inadequate reimbursement for screening and diagnosis, and lack of knowledge among primary health care providers about EHDI issues. Opposition to EHDI programs by hospital administrators was rated substantially lower in 2001 than in 1998. State EHDI Coordinators were also surveyed about how well their EHDI program is addressing issues related to screening, diagnosis, early intervention, linkages to medical home providers, tracking and data management, and family support programs. Although substantial progress has been made, many gaps remain with current EHDI programs.     

Legal and Ethical Considerations in Allowing Parental Exemptions From Newborn Critical Congenital Heart Disease (CCHD) Screening

Critical congenital heart disease (CCHD) screening is rapidly becoming the standard of care in the United States after being added to the Recommended Uniform Screening Panel (RUSP) in 2011. Newborn screens typically do not require affirmative parental consent. In fact, most states allow parents to exempt their baby from receiving the required screen on the basis of religious or personally held beliefs. There are many ethical considerations implicated with allowing parents to exempt their child from newborn screening for CCHD. Considerations include the treatment of religious exemptions in our current legal system, as well as medical and ethical principles in relation to the rights of infants. Although there are significant benefits to screening newborns for CCHD, when a parent refuses for religious or personal beliefs, in the case of CCHD screening, the parental decision should stand.     

National evaluation of US newborn screening system components

Newborn screening has existed as a state-based public health service since the early 1960s. Every state and most territorial jurisdictions have comprehensive newborn screening programs in place, but in the United States a national newborn screening policy does not exist. This results in different administrative infrastructures, screening requirements, laboratory and follow-up services, medical management approaches, and related activities across the country. Federal initiatives and support have contributed to limited evaluations of various aspects of individual newborn screening programs at the national level, but funding is an issue. The national evaluation strategies have taken various forms, all with the intent of improving the screening system through review of actions taken and suggestions for future improvements. While participation in the national evaluation effort for newborn screening laboratory practices includes all US programs, and this has aided in improving quality and harmonizing protocols, other national evaluation activities have been only moderately successful. National data reporting of quality indicators for various program elements must be comprehensive and timely, and the elements must be universally accepted in order to meet the evaluation and improvement needs of the national newborn screening system. A comprehensive real time national evaluation activity will likely require additional resources and enforcement incentives. Limited federal actions through grant incentives and selected reporting requirements provide a possible means of stimulating programs to participate in national harmonization efforts.     

Critical role of the March of Dimes in the expansion of newborn screening

Expansion of newborn screening (NBS) has been driven primarily by a combination of advances in technology and medical treatment, and the sustained advocacy efforts of consumers and voluntary health organizations. The longstanding leadership of the March of Dimes has been credited by many as a critical factor in the expansion and improvement of state NBS programs. From the historic vantage point of four decades of March of Dimes involvement with newborn screening, this report reviews the unique origin of the first newborn screening test, and identifies from this point of origin several of the elements which still define the evolution of advocacy for NBS today. It also documents activities at the federal level and in seven states that have lead to expanded screening for newborns. Advances in NBS technology and medical treatment have informed policy development. Mobilization of volunteers and focused advocacy activities have brought about expansion of screening opportunities for newborns across the United States. But more work is needed. Continued application of the effective strategies identified in this report will help assure that all families have the best possible chance of assuring that their newborns do not have to suffer the complications of conditions that we know can be treated effectively.     

The role of National Library of Medicine web sites in newborn screening education

Expanded newborn screening programs and subsequent detection of rare genetic disorders challenge parents and their medical providers to learn about the treatment and management of these disorders. Many people seek medical information on the Internet but may encounter requests for registration or fees, or find that resources are out of date, difficult to understand, or buried in advertisements. The U.S. National Library of Medicine (NLM), a component of the National Institutes of Health, provides web-based resources that address the challenges of newborn screening education. These resources include MedlinePlus, Genetics Home Reference, ClinicalTrials.gov, and PubMed. NLM websites are not commercial, do not require registration or fees, and provide varied levels of information for a continuum of audiences from low-literacy consumers to health professionals. Using phenylketonuria as an example, this study describes the information that parents and their medical providers can find through NLM resources. NLM has embraced the digital age and provides the public with reliable, accurate, and up-to-date educational materials.     

Mandatory versus voluntary consent for newborn screening?

Virtually every infant in the United States undergoes a heel stick within the first week of life to test for a variety of metabolic, endocrine, and hematological conditions as part of state-run universal newborn screening (NBS) programs. The history of this mandatory public health program is examined, as well as whether the policy was morally justifiable. Three changes in NBS practice necessitate a re-evaluation of the mandatory nature of NBS. First is the adoption of NBS for hemoglobinopathies in the 1980s that led to the identification of many sickle cell carriers and carriers of other hemoglobin variants. In all other contexts, carrier testing requires consent, and there is no moral rationale why NBS ought to be exceptional. Second is the application of tandem mass spectrometry (MS/MS) to NBS in the 1990s that led to the identification of many metabolic conditions and variants, some of which were not treatable and others of which had unknown clinical relevance. To the extent that the conditions do not need emergent diagnosis and treatment, there is less justification for mandatory screening. Third, there is great interest in using residual blood spots for research, and the cornerstone of research ethics is the voluntary consent of the participant (or his or her proxy). These three changes support revising mandatory NBS with a tiered consent process to best balance respect for parental autonomy and the promotion of children's health.     

Pilot programs in newborn screening

The term "pilot study" has been used over the years to describe the evaluation of the many elements involved in deciding whether a proposed condition should be added to a newborn screening (NBS) panel, and until recently, was unilaterally used to describe the evaluation of the assay to be used before the condition was officially adopted by a state for its newborn screening panel. Since Guthrie's introduction of screening for PKU, each time a new condition was added to the panel, the screening assay itself was validated through a population-based trial, in which the test was performed with de-identified samples to avoid association between the test result and the infant. This is considered by the laboratory as the "pilot phase" of adding a new condition. To advance the science of NBS, especially to accommodate new technologies that may provide new types of information (genetic versus physiological) for each new condition, pilot programs are essential. Involvement of the clinical community serves to improve these evaluations and provides the needed clinical validation of decisions made as a result of it. This paper describes the historical context of pilot programs in population-based NBS that utilize laboratory-based markers as indicators of concern; specifically, three applications that demonstrate different approaches to the use of pilots in adding conditions to a NBS panel are described.     

The clinical aspects of newborn screening: importance of newborn screening follow-up

The aim of newborn screening is to identify presymptomatic healthy infants that will develop significant metabolic or endocrine derangements if left undiagnosed and untreated. The goal of ultimately reducing or eliminating irreversible sequelae is reached by maximizing test sensitivity of the primary newborn screening that measures specific analytes by a number of methodologies. Differentiation of true from false negatives is accomplished by the test specificity. This review discusses disorders for which, in general, there are available therapies and that are detected by routine and expanded newborn screening. Recommendations are presented for evaluation by a primary care physician, with confirmation by a metabolic or endocrinology specialist. Disorders are organized in tabular format by class of pathway or analyte, with attention to typical clinical presentations, confirmatory biochemical and molecular tests, and therapies. There are numerous challenges in clinical follow-up, including diagnosis and appropriate understanding of the consequences of the disorders. The data required to meet these challenges can be acquired only by large scale longitudinal comprehensive studies of outcome in children identified by newborn screening. Only with such data can newborn screening fully serve families.     

Newborn screening for fragile X syndrome

Newborn screening for fragile X syndrome (FXS) is technically possible, and in the relatively near future accurate and inexpensive screening technologies are likely to be available. When that happens, will America's public health system adopt newborn screening for fragile X syndrome? This article addresses this issue by first placing screening for FXS in the context of the history and current status of newborn screening policy and practice. Lack of a proven medical treatment may stand as a barrier to newborn screening, but strong arguments can be made that early intervention provides important services for identified newborns and their families. Furthermore, other arguments could be used to justify newborn screening, including informed reproductive risk, medically necessary information, and consumer demand. Fragile X syndrome is offered as a prototype for many of the issues that will face society as more genetic disorders are discovered and new technologies for screening are developed.     

Young Adults’ Pre-Existing Knowledge of Cystic Fibrosis and Sickle Cell Diseases: Implications for Newborn Screening

Parental distress following newborn screening is thought to result from inadequate preparation for screening results which can result in maladjustment to screening results after birth. Although prior awareness of relevant genetic disorders such as cystic fibrosis and sickle cell diseases, and preparedness for screening is suggested to enhance information uptake and reduce parental distress, little is known about how young adults’ prior knowledge prepares them for screening or affects the assimilation and retention of screening information. Thirty-four young adults, without familial genetic disease or screening experience took part in one of seven focus groups which examined knowledge of cystic fibrosis and sickle cell diseases and ability to assimilate new disease information. Thematic analysis revealed that adults had limited understanding of how cystic fibrosis and sickle cell diseases were inherited or how symptoms manifest, leaving them inadequately prepared for screening results if they do not engage with information interventions. Further, they selectively assimilated new disease information and had difficulty understanding new information in the absence of prior disease knowledge. Young adults’ prior disease knowledge should be considered within a newborn screening context and written materials should consider the inclusion of carrier statistics to improve information relevance.     

Disparities in Current and Future Childhood and Newborn Carrier Identification

International carrier testing guidelines discourage testing in childhood to preserve autonomous decision making and prevent detrimental psychosocial consequences. Despite the discouragement of autosomal recessive carrier testing during childhood, some sickle cell disease (SCD) or cystic fibrosis (CF) carriers are incidentally identified through UK and international newborn screening (NBS). This creates a scenario where parents may have knowledge of their newborn’s, but not older child’s carrier status. In addition, there is wide variation in the identification of CF and SCD carriers due to the screening technologies implemented by different NBS programs. The current and future availability of childhood testing are determined to some extent by the impact of testing on children and parents (whether this is beneficial or detrimental to wellbeing). However empirical research informing carrier guidance and practice is conflicting. Echoing previous calls, this discussion highlights the need for further qualitative and longitudinal research with children to consider the psychosocial impact of carrier testing on children and role of disclosure from parents on adaptation to results. It is recommended that professionals aim to minimize harms resulting from carrier identification by providing support for parents and children following NBS. Support for non-genetics specialists from genetic counselors to enable discussion of carrier results with children is suggested.     

Genetic Screening Services Provided in Turkey

In Turkey, the rate of consanguineous marriage is quite high (22–24 %) and as a result, the incidence of autosomal recessive diseases and congenital anomalies is also very high and gives rise to a serious public health problem. In the last three decades, great effort has been made to avoid increases in the prevalence of these hereditary diseases. For this purpose, population-based premarital, prenatal, neonatal and adult genetic screening programs are performed in various centers such as Community Health Centers, Early Diagnosis of Cancer and Education Centers (KETEM), Prenatal and Neonatal Departments of Universities and State Hospitals and Thalessemia Screening Centers. Such centers are staffed by health professionals including physicians, family physicians, nurses, midwives, biologists and medical geneticists. Genetic counseling is also provided to patients attending these centers after screening tests are performed. Since there are no specialized training programs for genetic counselors, genetic counseling is generally provided by doctors or medical geneticists. The aim of this paper is to give an overview of the genetic screening services provided in Turkey, the prevalence of genetic diseases and the design of intensive educational programs for health professionals.     

Ethical issues in the application of medical technology to paediatric intensive care: two views of the newborn

Recent advances in medical technology have led to a marked improvement in the chances of survival of sick or preterm infants, thereby stimulating renewed ethical debate on the status of the newborn. Two contradictory attitudes to the medical care of preterm or congenitally malformed newborn infants can be discerned in our pluralistic society. The two attitudes have their historical roots in the classical Graeco-Roman and Judaeo-Christian ethical traditions respectively. The former views newborn infants as of potential value only whereas the latter emphasises the intrinsic worth and dignity of the individual made in God's image. Recent secular philosophical reflection has provided a rationale for infanticide of the sick or abnormal newborn. A Christian approach to the care of the newborn prohibits intentional killing yet may encompass the withdrawal of treatment that is inappropriate or unduly burdensome. Medical care should be based upon respect for the value of the individual, protection of the defenceless from abuse or exploitation, and wise stewardship of limited health-care resources.     

A Review on Spinal Muscular Atrophy: Awareness,Knowledge, and Attitudes

Spinal Muscular Atrophy (SMA) is one of the most common genetic causes of infant death. There is presently no cure, but the therapeutic pipeline is promising. Given the prevalence of SMA coupled with the potential for new treatment options, universal carrier screening, and newborn screening, we conducted a literature review of the awareness, knowledge, and attitudes held by the public and non-geneticist clinicians about various aspects of SMA. We then identify recommendations for targeting additional research, training, and educational efforts to increase awareness. In the limited available literature, we found that the public is generally unfamiliar with SMA but has favorable views of carrier and newborn screening. Clinicians also had limited understanding of SMA. Further research into knowledge and attitudes of healthcare providers and the general public will help develop a better understanding of education gaps and inform outreach efforts. These educational efforts are needed to complement the momentum as treatments are being developed and tested. Furthermore, professional societies are proposing routine carrier screening and SMA may achieve newborn screening status, which will change the SMA landscape for genetics professionals and families. Thus, it is important to explore knowledge and attitudes about SMA to allow us to prepare for when SMA attains higher public and clinician recognition.     

Cost-effectiveness and test-performance factors in relation to universal newborn hearing screening

The first portion of this paper reviews current understanding of the cost of universal newborn hearing screening (UNHS), including capital and operating expenses, as well as the costs for follow-up testing on infants who do not pass the hearing screening test in the perinatal period. Capital expenses include the cost of equipment. Operating expenses include the costs for disposables and personnel. Follow-up costs relate to the diagnostic testing that must be performed in order to determine hearing status in those infants who do not pass the newborn hearing screening test. This section is followed by a more theoretical approach, in which test performance, prevalence, program costs, and "costs of hearing loss" are combined in a model that includes all costs of hearing loss, including screening, follow-up testing, and costs (benefits) associated with identifying hearing loss early in life. While some of the model's cost/benefit assumptions may be incorrect, the general approach of taking into account both costs and benefits provides a framework for evaluating the utility of UNHS in a more global manner. Model assumptions (costs, benefits, prevalence, sensitivity, specificity) can be changed to values deemed more appropriate, but the general approach is still informative. With the present assumptions, it is shown that initially, the costs of UNHS exceed its benefits. However, after only four years of operation, UNHS programs will result in a net savings to society. These savings increase rapidly, reaching a maximum annual benefit of seven billion dollars 75 years after initiation of the program, which is also the societal benefit for all years thereafter.     

Early intervention after universal neonatal hearing screening: impact on outcomes

This article summarizes the developmental outcomes of Colorado children with significant hearing loss. Some of the research compares children born in hospitals that have implemented universal newborn hearing screening programs for newborns. Other research compares the developmental outcomes of children who have been early-identified with hearing loss. Early-identification is defined as identification of hearing loss within the first six months of life. Late identification in the Colorado studies is defined as age of identification of hearing loss after the age of six months. In a few of the Colorado studies, age at initiation of intervention was used. Within the Colorado system, age of identification can be interpreted as almost synonymous with age of intervention, as the vast majority of children enter intervention services with two months after the identification of the hearing loss. Children who were early-identified and had early initiation of intervention services (within the first year of life) had significantly better vocabulary, general language abilities, speech intelligibility and phoneme repertoires, syntax as measured by mean length of utterance, social-emotional development, parental bonding, and parental grief resolution. Two other studies (Nebraska and Washington state) of early- versus later-initiation of intervention services report findings similar to the Colorado studies. Direct comparisons with the historical literature are not possible because the developmental delays of what would now be termed "later-identified" were too low to report developmental ages for the birth through five-year-old population.     

我国公共卫生中的伦理学问题

在公共卫生研究中重点探讨了伦理审查、研究对象选择、知情同意、保护研究对象隐私、对研究对象的适当补偿等方面的伦理学问题;在公共卫生实践中重点探讨了传染病防治、疾病监测、计划免疫、疾病筛查及卫生资源配置领域中的伦理学问题。重视这些问题并参照一定的伦理学原则将有助于解决问题,更好地促进公共卫生事业的发展,促进人群健康。     

运动预防骨质疏松症的哲学思考

从运动角度对骨质疏松的防治进行哲学思考,指出在临床实践指导中,医务工作者要做到运动与骨质疏松者的有机结合,应从以下几个方面进行着手;（1）运动预防骨质疏松具有普遍性;（2）运动是预防骨质疏松的关键;（3）为骨质疏松患者,制定个体化运动方案。     

Current Lynch Syndrome Tumor Screening Practices: A Survey of Genetic Counselors

An electronic survey of the National Society of Genetic Counselors Cancer Special Interest Group was conducted in July 2011 to assess Lynch syndrome tumor screening programs and identify barriers to implementation. Over half of respondents (52.8 %) reported having a routine Lynch syndrome tumor screening protocol for newly diagnosed colon and/or endometrial cancers, and approximately half of these used a universal approach. There was an increase in the number of those screening over time, especially in the past 3 years. Tumor screening methods varied; 34/53 (64.2 %) started with immunohistochemistry, 11/53 (20.8 %) started with microsatellite instability testing and 8/53 (15.1 %) performed both on newly diagnosed colorectal tumors. Just 21.7 % (23/106) of respondents indicated they have a tumor screening program in place for newly diagnosed endometrial cancers. Written consent is rarely obtained (7.1 %) and the method of how results were returned to the patient was variable among respondents. Prevalent barriers to implementation were concern about cost, bringing key players together and convincing medical staff of the necessity. Use of Lynch syndrome tumor screening is in clinical practice, but protocols vary widely. This survey provides a glimpse of current practices and common barriers, and identifies the need for tumor screening algorithms with outcomes data.     

Quality monitoring for early hearing detection and intervention programs to optimize performance

The purpose of this chapter is to review the principles of quality monitoring for newborn screening programs at both a hospital and a public health level. The focus is on quality assurance in Early Hearing Detection and Intervention (EHDI). The chapter addresses the need for a systems approach to quality, beginning with the birth screening, moving to follow-up re-screening and on to confirmatory evaluations and life-long intervention and management for the infants identified with permanent hearing loss. Benchmarks are identified to assist those involved in establishing programs or in improving program performance. As the use of electronic information systems in EHDI becomes widespread, the importance of strict computer-based logic rules to assure patient privacy is addressed.