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COMMENTARY |
Don Bailey and Debra Skinner are with the University of North Carolina, Chapel Hill. Steve Warren is with the University of Kansas, Lawrence.
Correspondence: Requests for reprints should be sent to Don Bailey, FPG Child Development Institute, CB # 8180, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-8180 (e-mail: don_bailey{at}unc.edu).
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ABSTRACT |
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 TOP ABSTRACT INTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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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.
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INTRODUCTION |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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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 documented13–27; (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.
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NEWBORN SCREENING ALLOWS FOR EARLY PSYCHOLOGICAL OR THERAPEUTIC INTERVENTIONS |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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There is widespread agreement that optimal environmental influence on brain development depends on the amount, quality, and timing of early experiences.16 Although learning occurs throughout life, plasticity decreases over time, making learning more difficult.17 A National Academy of Sciences task force on the science of early development concluded that experiences during the first 3 years of life exert a powerful influence on future development.18
Mental retardation and most developmental disabilities are, by definition, disorders of the brain.19,20 Abnormalities exist early in development, creating the potential for altered responses to environmental stimuli, as well as for maximum impact of appropriately targeted experiences. Major literature reviews conclude that high-quality early intervention can influence the development of children with disabilities, with impressive effect sizes ranging from 0.40 to 0.75.21–24
Positive effects of early intervention have generally been shown for children with MRDD irrespective of etiology or severity. However, except for relatively common conditions (e.g., Down syndrome, autism), it has been logistically impossible to determine the efficacy of early interventions for specific conditions. Because most genetic causes of MRDD are rare, it is difficult and expensive to study a sufficient number of children.25 However, given the large degree of overlap in learning and developmental challenges across conditions26 and the established efficacy of early intervention with mixed-etiology groups,27 high-quality, individualized early intervention should have significant positive effects irrespective of etiology. Recognizing the efficacy of early intervention and the accompanying need for earlier identification, the American Academy of Pediatrics recommends that pediatricians offer developmental screening for all children.28
Research is still needed to document the optimal quality, timing, and intensity of treatments. Also, professional practice needs improvement to ensure that the effects demonstrated in laboratory contexts can be replicated in clinical practice. Randomized clinical trials comparing earlier versus later treatments should be conducted. But we argue that existing evidence of early intervention efficacy is sufficient to support newborn screening across a wide array of conditions associated with MRDD.
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NEWBORN SCREENING PROVIDES ACCESS TO EXISTING SERVICES THAT MOST PARENTS CONSIDER EFFECTIVE |
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Part C includes a wide range of individualized educational, therapeutic, and family support services.29,30 Parents uniformly report a high degree of satisfaction with early intervention services.31–33 A recent study of a nationally representative sample of more than 3000 families found that most were very positive about their child’s entry into Part C programs, reporting relative ease in accessing services, positive impressions of professionals and services, and satisfaction with their involvement in decisionmaking.34 A follow-up study when the child reached 36 months of age found that most families remained very satisfied throughout the early intervention experience, reporting a wide range of benefits for their children and themselves.35
Including conditions causing MRDD in newborn screening would not require a new program of services. Because these conditions are rare, the number of children identified would likely not be an unreasonable burden on existing Part C services. Of course, early intervention professionals may need additional training and technical support so that they can help families understand these rare conditions and be aware of recommendations for providing appropriate services.
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EARLY INTERVENTION HAS POSITIVE BENEFITS FOR FAMILIES |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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Research suggests that early intervention can enhance the parents’ capacity to care for and teach their child, build advocacy skills, promote an optimistic view of the future, improve family quality of life, reduce stress, and enhance formal and informal supports. This is especially true when early intervention programs use a "family centered" approach and incorporate effective help-giving practices.35,39–46 Thus, newborn screening not only allows for treatment benefits for children but provides access to supports and services that result in measurable benefits to families.
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EXPANDING NEWBORN SCREENING IS CONSISTENT WITH RESEARCH ON CONSUMER PREFERENCES FOR INFORMATION |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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In a view at odds with current newborn screening criteria, a survey of 409 parents revealed that 71% agreed that an important goal of newborn screening was to provide information about reproductive risks. The majority also endorsed a right to medical information, services, and referrals.49 An ethnographic study of 106 families referred to a pediatric genetic clinic found that most endorsed newborn screening for a variety of disorders. They did not construe the benefit of newborn screening strictly in terms of medical treatment but as providing information that would help them make decisions and gain early entry to appropriate educational, therapeutic, and social services.50
In these and other studies, some consumers have indicated an awareness of the risks that bioethicists, social scientists, and disability rights advocates have noted as possible consequences of genetic testing. These risks include concerns about privacy of information, insurance discrimination, stigmatization of individuals or groups, psychological distress, endangerment of the parent-child bond, lack of adequate follow-up to testing, and selective abortion.51–55
Despite these concerns, consumer demand for screening is high and likely to increase as technology advances and advocacy groups and the media promote screening for various disorders.56,57 It is likely that consumers will not make the distinctions between "treatable" and "untreatable" disorders that are reflected in current newborn screening criteria. Most parents also are at odds with the current principle that screening should not be done to inform reproductive choice. Overall, parents view information about their own health status, reproductive risk, and educational and therapeutic services as major benefits of newborn screening.48,49,57–60
There is some evidence that professional and consumer views are growing closer on these issues. A recent task force report argued that knowledge about genetic risk is "medically necessary information" and that this constitutes a sufficient rationale for screening even if direct medical benefit has not been proven.61 A survey of 499 primary care physicians showed 90% agreeing that information on reproductive risk was an important goal of newborn screening.49
Consumers have traditionally been underrepresented on state newborn screening advisory boards or other decisionmaking bodies.62 However, recent recommendations by task forces and advocacy groups call for the inclusion of consumers on such boards to ensure that those who have directly experienced the impact of a genetic disorder have a voice in decisions about newborn screening tests and policies.5,6,63 Consumer perspectives will also be important in addressing issues that will accompany expansions of newborn screening. These include educating consumers about newborn screening in general; an informed consent process that provides an adequate description of the types of disorders being screened for and the ramifications of a positive diagnosis; and, for those diagnosed, access to appropriate information and supports, including genetic counseling and early intervention.
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EXPANDING NEWBORN SCREENING COULD PROVIDE OTHER SOCIETAL BENEFITS |
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First, newborn screening would lead to increased knowledge about the incidence and range of effects of particular conditions. For most rare disorders, we have a general estimate of incidence rate, but when population screening is not available, these estimates may not be on the basis of representative samples of sufficient size. When estimates of incidence are on the basis of presenting cases in clinical practice, mildly affected (or perhaps unaffected) cases may never be noticed and, thus, not represented. Screening newborns provides an optimal opportunity for identifying all cases of a condition. More accurate incidence rates would provide critical information regarding the potential impact of a condition on society. Although milder cases may not need treatment, studying mildly affected or unaffected individuals would provide important scientific information that could lead to a better understanding of the range of impacts of a condition and potentially the mechanisms by which impact occurs.
Second, newborn screening allows for studies of the earliest developmental patterns of particular conditions and the onset of neurological, physical, or behavioral features. Conditions such as FXS typically are not identified until 2 to 3 years of age, making prospective studies of infant development virtually impossible.47 Without this knowledge, researchers and clinicians have inadequate information on which to design appropriate treatments or decide whether there is a point in development when the timing of interventions would maximize effectiveness. Studies of early development would provide important baseline data about typical patterns of development in untreated or under-treated circumstances against which new treatments could be compared.
Third, newborn screening inevitably will push a research and development agenda on new treatments. Although an effective treatment is presently available through Part C, we must assume that even more effective interventions can and will be developed. As parents learn about their child’s condition and realize that little or no treatment research has been done on that disorder, advocacy efforts will increase. And as researchers and clinicians become aware of younger cases of a condition, they, too, will begin exploring and testing earlier treatment options, ranging from applied research on environmental interventions to very basic research on gene therapy or targeted pharmacogenetics (the use of genetic information to individualize pharmaceutical treatments).
Finally, as additional or enhanced treatments become available, newborn screening could potentially provide faster access to the families of affected individuals to test treatment efficacy. Of course, concerns about privacy must be discussed, but a greatly expanded newborn screening program would allow for more rapid translational research and the ability to offer new treatments without first having to develop a means of identifying those in need of treatment.
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DISCUSSION |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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We make this recommendation assuming the availability of highly accurate screening tests, affordable testing to prevent inequities in who has access to expanded screening, a voluntary system of screening with informed consent, and adequate systems of follow-up and support for families. Privacy guidelines and strong legislation must exist to prevent discrimination as a result of gene discovery or disclosure.
Rapid changes in newborn screening are inevitable, pushed by a combination of recent task force and government reports, gene discovery, new technology, advocacy efforts, and private market forces.64–67 How will the public health system of America react? We argue for a proactive stance, rethinking the purpose and consequences of newborn screening as a precursor to its expansion. We recognize that intense debates will occur, with appropriate and inevitable discussions about the purpose of screening, its cost effectiveness, the role of consumer demand in decision making, ethical issues, and legal concerns.68–71 The decentralized nature of decision making about newborn screening in the United States means that creative efforts will be needed to organize these discussions and provide sufficient guidance so that changes can occur in the most coordinated and rational fashion possible.
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Acknowledgments |
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This article was developed from a presentation at the National Center on Birth Defects and Developmental Disabilities Conference, Washington, DC, July 26, 2004.
Human Participant Protection
No protocol approval was required for this study.
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Footnotes |
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Contributors
D. Bailey originated the article and led the primary writing. D. Skinner wrote the section on consumer preferences. S. Warren wrote the section on early intervention. All authors helped to conceptualize ideas and review drafts of the article.
Accepted for publication January 30, 2005.
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References |
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TOPABSTRACTINTRODUCTIONNEWBORN SCREENING ALLOWS FOR...NEWBORN SCREENING PROVIDES...EARLY INTERVENTION HAS POSITIVE...EXPANDING NEWBORN SCREENING IS...EXPANDING NEWBORN SCREENING...DISCUSSIONReferences |
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