文章基本信息

标题：Newborn Screening for Developmental Disabilities: Reframing Presumptive Benefit
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作者：Donald B. Bailey Jr ; Debra Skinner ; Steven F. Warren 等
期刊名称：American journal of public health
印刷版ISSN：0090-0036
出版年度：2005
卷号：95
期号：11
页码：1889-1893
DOI：10.2105/AJPH.2004.051110
语种：English
出版社：American Public Health Association
摘要：A fundamental tenet of newborn screening is that screening should lead to a proven benefit for the infant. The standard is usually construed as medical benefit that significantly improves a child’s health. Screening for many conditions that cause developmental disabilities does not currently meet this standard. We argue for expanding concepts of presumptive benefit. Newborn screening provides access to early intervention programs that are shown to positively influence child development and support families. Consumers want information about their children’s health and their own reproductive risk, and they have a broader view than policymakers of what constitutes a treatable disorder. Newborn screening provides other societal benefits that, in the absence of data showing harm and with appropriate attention to ethical and legal issues, warrant consideration of an expansion of targets for newborn screening. NEWBORN SCREENING traditionally has been limited to conditions for which there are identifiable treatments known to alter the course of the disease. This precedent was established with phenylketonuria, and every task force that has considered guiding principles for newborn screening has affirmed the necessity of treatment potential and proven benefit to the infant. 1 ^– 6 However, the landscape of genetic testing is changing rapidly. 7 ^, 8 Advances in gene discovery and technology mean that in the very near future, many disorders may be screened cheaply and easily. When cheap and accurate methods for screening hundreds of conditions are available, will screening be done? Undoubtedly this question will lead to major public policy debates and will challenge current guidelines for newborn screening. 9 ^– 11 The answer will depend on many factors, including the nature of the condition, ethical and legal issues, positions held by professional organizations, opinions of stakeholders, research, cost–benefit analyses, advocacy efforts, court cases, and new treatments. Most disorders that could be screened will be rare and have no proven medical treatment. If the principle of proven benefit for the infant is applied, most would not be eligible for newborn screening under current guidelines. We suggest that benefit historically has been construed too narrowly, considering only those circumstances in which the infant’s health is much improved as a result of earlier treatment. In this commentary, we analyze screening for mental retardation and developmental disability (MRDD) to suggest a broader conceptualization of the benefits of newborn screening. Hundreds of genetic causes of MRDD have been identified in the past decade, and more are likely. 12 For most, a cure or medical treatment is not currently available. However, we argue that newborn screening for these disorders does the following: (1) it allows for earlier psychosocial or therapeutic interventions, the value of which has been documented 13 ^– 27 ; (2) it provides access to services that most parents consider helpful for their children; (3) it provides access to support services that can have positive benefits for families; (4) it is consistent with literature on consumer preferences for information; and (5) it provides other societal benefits that, in the absence of data indicating harm, justify their inclusion in newborn screening.