Newborn Screening for Developmental Disabilities - American Journal ...

 COMMENTARIES 

Newborn Screening for Developmental Disabilities: Reframing Presumptive Benefit 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. (Am J Public Health. 2005;95:1889– 1893. doi:10.2105/AJPH.2004. 051110)

| Donald B. Bailey Jr, PhD, Debra Skinner, PhD, and Steven F. Warren, PhD 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

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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.

NEWBORN SCREENING ALLOWS FOR EARLY PSYCHOLOGICAL OR THERAPEUTIC INTERVENTIONS Neurobiological and behavioral research provides strong evidence of the primacy of the early years and the efficacy of early intervention. Animal and human research documents the

neural development occurring during the first years of life.13 Interactions with the environment affect brain development in both “experience-expectant” and “experience-dependent” ways.14 Most likely this happens through transactional processes in which genotype, phenotype, and “environtype,” i.e., the environment as experienced by the individual, interact to influence each other over time.15 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

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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 highquality, 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.

NEWBORN SCREENING PROVIDES ACCESS TO EXISTING SERVICES THAT MOST PARENTS CONSIDER EFFECTIVE Since 1986, the United States has offered early intervention

services for infants and toddlers with or at risk for disabilities through Part C of the Individuals with Disabilities Education Act. Early intervention is available for children who have “established conditions” that will likely lead to a delay, even if a delay is not yet evident. Thus, any child identified through newborn screening with such a condition would be eligible for Part C services. 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 Having a child with MRDD also poses challenges to families. Their child’s learning and behavior problems, the need to advocate for services, and the accommodations often necessary in family life can result in mental health consequences, family disruptions, and financial burdens.36–38 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.

EXPANDING NEWBORN SCREENING IS CONSISTENT WITH RESEARCH ON CONSUMER PREFERENCES FOR INFORMATION Those few studies that have examined consumer perspectives on newborn screening for MRDD broaden the parameters of what constitutes a “benefit.” A survey of parents of children with fragile X syndrome (FXS) found that parents perceived information as a key benefit of screening: information about FXS, their children’s special needs, appropriate services, and reproductive risks. Other bene-

fits were prevention of the “diagnostic odyssey” and its financial and emotional costs.47,48 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 parentchild 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

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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.

EXPANDING NEWBORN SCREENING COULD PROVIDE OTHER SOCIETAL BENEFITS Thus far, we have argued for expanding newborn screening to achieve a broader array of child and family benefits than have traditionally been considered. But beyond advantages to the individuals most directly affected by MRDD, other societal benefits are possible. 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 undertreated 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.

DISCUSSION Historically, the decision to screen a newborn has been a conservative one, limited to those conditions where there is the potential for medical treatment. Considering MRDD as a class of conditions that could potentially be screened, we suggest expanding the concept of presumptive benefit to include psychosocial and educational treatments for children, information and support services for families, and other potential societal benefits. We show that sufficient data exist indicating the following: (1) most consumers want, as early as possible, any information about a condition that might affect their child’s health or development; (2) most consumers differ from policymakers in their views of what constitutes a “treatable” condition; (3) early intervention programs can positively influence the development and behavior of many young children with disabilities; (4) early intervention can support families as they adapt to the challenges of caring for a child with MRDD; (5) an acceptable national program of early intervention already exists; and (6) other benefits to society of early identification are likely to occur. Thus, we argue that, in the absence of data indicating harm as a result of newborn screening, a significant expansion of newborn screening is warranted. 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 followup 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.

About the Authors Don Bailey and Debra Skinner are with the University of North Carolina, Chapel Hill. Steve Warren is with the University of Kansas, Lawrence. 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@ unc.edu). This commentary was accepted January 30, 2005.

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.

Acknowledgments Preparation of this article was supported in part by grants from the National Institute for Child Health and Human Development (R21-HD043616) and the Ethical, Legal, and Social Implications Research Program, National Human Genome Research Institute (P20-HG003387). 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.

References 1. WHO Scientific Group. Screening for inborn errors of metabolism. World Health Org Techn Rep Ser. 1968;401: 1–57. 2. Wilson JMG, Jungner F Principles and Practice of Screening for Disease (Public Health Papers No. 34). Geneva: World Health Organization; 1968. 3. National Research Council. Committee for the Study of Inborn Errors of Metabolism. Genetic Screening: Programs, Principles and Research. Washington, DC: National Academy of Sciences; 1975. 4. Andrews LB, Fullarton JE, Holtzman NA, Motulsky AG, eds. Assessing Genetic Risks. Implications for Health and Social Policy. Washington, DC: National Academy of Sciences; 1994. 5. Holtzman NA, Watson MS, eds. Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Bethesda, MD: National Institutes of Health; 1997. 6. American Academy of Pediatrics Newborn Screening Task Force. 2000. Serving the family from birth to the medical home. Newborn screening: A blueprint for the future. Pediatrics. 2001;106(Suppl):389–427. 7. Collins FS. Medical and societal consequences of the Human Genome Project. N Engl J Med. 1999;341: 28–37. 8. Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA. 2001;285: 540–544.

1892 | Commentaries | Peer Reviewed | Bailey et al.

9. Robertson JA. The $1000 genome: ethical and legal issues in whole genome sequencing of individuals. Am J Bioethics. 2003;3(3):1–10. 10. Therrell BL. US. newborn screening policy dilemmas for the twenty-first century. Mol Gen Metabol. 2001;74: 64–74. 11. Khoury MJ, McCabe LL, McCabe ERB. Population screening in the age of genomic medicine. N Engl J Med. 2003; 348:50–58. 12. Inlow JK, Restifo LL. Molecular and comparative genetics of mental retardation. Genetics. 2004;166: 835–881. 13. Lichtman JW. Developmental neurobiology overview: synapses, circuits, and plasticity. In: Bailey DB Jr, Bruer JT, Symons FJ, Lichtman JW, eds. Critical Thinking About Critical Periods. Baltimore: Paul H. Brookes Publishing Co.; 2001:27–44. 14. Greenough W, Black J, Wallace C. Experience and brain development. Child Dev. 1987;58:539–559. 15. Sameroff AJ, Fiese BH. Transactional regulation: the developmental ecology of early intervention. In: Shonkoff JP, Meisels SJ, eds. Handbook of Early Childhood Intervention. 2nd ed. New York: Cambridge University Press; 2000:135–139. 16. Bailey DB Jr, Bruer JT, Symons FJ, Lichtman JW, eds. Critical Thinking About Critical Periods. Baltimore: Paul H. Brookes Publishing Co.; 2001. 17. Farran DC. Critical periods and early intervention. In: Bailey DB Jr, Bruer JT, Symons FJ, Lichtman JW, eds. Critical Thinking About Critical Periods. Baltimore: Paul H. Brookes Publishing Co.; 2001:233–266. 18. Shonkoff JP, Phillips DA. From Neurons to Neighborhoods: The Science of Early Childhood Development. Washington, DC: National Academy Press; 2000. 19. Weiler IJ, Greenough WT. Synaptic synthesis of the fragile X protein: Possible involvement in synapse maturation and elimination. Am J Med Gen. 1999; 83:248–252. 20. Piven J, Arndt S, Bailey J, Havercamp S, Andreasen NC, Palmer P. An MRI study of brain size in autism. Am J Psychiatry. 1995;152:1145–1149.

short- and long-term benefits of educational opportunity. School Psych Quart. 2001;16:9–30. 23. Guralnick M. Effectiveness of early intervention for vulnerable children: A developmental perspective. Am J Mental Retardation. 1998;102:319–345. 24. Ramey CT, Ramey SL. Early intervention and early experience. Am Psychol. 1998;53(3):109–120. 25. Warren SF, Brady, NC, Fey ME. Communication and language: Research design and measurement issues. In: Emerson E, Hatton C, Thompson T, Parmeter TR, eds. The International Handbook of Applied Research in Intellectual Disabilities. West Sussex, England: John Wiley & Sons; 2004:385–406. 26. Rice ML, Warren SF, eds. Developmental Language Impairments: From Phenotypes to Etiologies. Mahwah, NJ: Lawrence Erlbaum Publishers; 2004. 27. Odom SL, Kaiser AP. Prevention and early intervention during early childhood: Theoretical and empirical bases for practice. In: MacLean WE, ed. Handbook of Mental Deficiency, Psychological Theory and Research. 3rd ed. Mahwah, NJ: Lawrence Erlbaum; 1997: 137–172. 28. American Academy of Pediatrics, Committee on Children with Disabilities. Developmental surveillance and screening of infants and young children. Pediatrics. 2001;108:192–196. 29. Harbin GL, McWilliam RA, Gallagher JJ. Services for young children with disabilities and their families. In: Shonkoff JP, Meisels SJ, eds. Handbook of Early Childhood Intervention. 2nd ed. Cambridge, UK: Cambridge University Press; 2000:387–414. 30. Bailey DB Jr, Aytch LS, Odom SL, Symons F, Wolery M. Early intervention as we know it. Men Ret Dev Dis Res Rev. 1999;5:11–20. 31. McNaughton D. Measuring parent satisfaction with early childhood intervention programs: current practice, problems, and future perspectives. Top Early Child Spec Educ. 1994;14:26–48. 32. McWilliam RA, Lang L, Vandiviere P, angel R, Collins L, Underdown G. Satisfaction and struggles: family perceptions of early intervention services. J Early Intervention. 1995;19:43–60.

21. Anderson LM, Shinn C, Fullilove MT, et al. The effectiveness of early childhood development programs: A systematic review. Am J Prev Med. 2003;24 (3 Suppl):32–46.

33. Lanners T, Mombaerts D. Evaluation of parents’ satisfaction with early intervention services within and among European countries: construction and applications of a new parent satisfaction scale. Infants Young Child. 2000;12: 61–70.

22. Gorey KM. Early childhood education: A meta-analytic affirmation of the

34. Bailey DB Jr, Hebbeler K, Scarborough A, Spiker D, Mallik S. First experi-

American Journal of Public Health | November 2005, Vol 95, No. 11


61. Ireys HT, Wehr E, Cooke RE. Defining Medical Necessity: Strategies for Promoting Access to Quality Care for Persons with Developmental Disabilities, Mental Retardation, and Other Health Care Needs. Arlington, VA: National Center for Education in Maternal and Child Health; 1999.

ences with early intervention: A national perspective. Pediatrics. 2004;113: 887–896.

46. Dunst CJ. Family-centered practices: birth through high school. J Spec Educ. 2002;36:139–147.

35. Bailey DB Jr, Hebbeler K, Spiker D, Scarborough A, Mallik S, Skinner M. 36-month outcomes of early intervention. Pediatrics. In press.

47. Bailey DB Jr, Skinner D, Sparkman K. Discovering fragile X syndrome: Family experiences and perceptions. Pediatrics. 2003;111:407–416.

36. Krauss MW, Selzer MM. Life course perspectives in mental retardation research: The case of family caregiving. In: Burack JA, Hodapp RM, Zigler E, eds. Handbook of Mental Retardation and Development. Cambridge, UK: Cambridge University Press; 1998: 504–520.

48. Skinner D, Sparkman KL, Bailey DB Jr. Screening for fragile X syndrome: Parent attitudes and perspectives. Genet Med. 2003;5:378–384.

37. Myers BA. Coping with developmental disabilities. In: Capute AJ, Accardo PJ, eds. Developmental Disabilities in Infancy and Childhood. Baltimore: Paul H. Brookes; 1996:473–484.

50. Skinner D. Newborn screening: Consumer perspectives. Paper presented at the National Center on Birth Defects and Developmental Disabilities Conference. Washington, DC: July 26, 2004.

63. Davidson ME, Weingarten K, Pollin TI, Wilson MA, Wilker N, Hsu N, Weiss JO. Consumer perspectives on genetic testing: implications for building familycentered public policies. Families, Systems, Health. 2000;18:217–235.

38. Honeycutt AA, Dunlap L, Chen H, Homsi G, Grosse S, Schendel D. Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment—United States, 2003. MMWR Morb Mort Weekly Rep. 2004;53:57–59.

51. Alper JS, Ard C, Asch A, Beckwith J, Conrad P, Geller LN, eds. The DoubleEdged Helix: Social Implications of Genetics in a Diverse Society. Baltimore: The John Hopkins University Press; 2002.

64. Newborn Screening: Characteristics of State Programs (Report # GAO-03–449). Washington, DC: US. General Accounting Office; 2003.

39. Bailey DB Jr, McWilliam RA, Darkes LA, et al. Family outcomes in early intervention: A framework for program evaluation and efficacy research. Excep Children. 1998;64:313–328. 40. Early Childhood Research Institute on Measuring Growth and Development. Family Outcomes in a Growth and Development Model (Technical Report no. 7). Minneapolis, MN: Center for Early Education and Development, University of Minnesota; 1998. 41. Roberts RN, Innocenti MS, Goetze LD. Emerging issues from state level evaluations of early intervention programs. J Early Intervention. 1999;22: 152–163. 42. McCollum JA, Hemmeter ML. Parent-child interaction when children have disabilities. In: Guralnick M, ed. The Effectiveness of Early Intervention. Baltimore: Paul H. Brookes; 1997: 549–578. 43. Hauser-Cram P, Warfield ME, Shonkoff JP, Krauss MW. Children with disabilities: A longitudinal study of child development and family well-being. Mon Society Res Child Dev. 2001:66(1);266. 44. Trivett CM, Dunst CJ, Boyd K, Hamby DW. Family-oriented program models, helpgiving practices, and parental control appraisals. Excep Children. 1995; 62:237–248. 45. Thompson L, Lobb C, Elling R, Herman S, Jurkiewica T, Hulleza C. Pathways to family empowerment: Effects of family-centered delivery of early intervention services. Excep Children. 1997;64:99–113.

49. Wertz DC. Ethical issues in pediatric genetics: views of geneticists, parents and primary care physicians. Health Law J. 1998;6:3–42.

52. Clayton EW. Ethical, legal and social implications of genomic medicine. N Engl J Med 2003;349:562–569. 53. Conrad P, Gabe J, eds. Sociological Perspectives on the New Genetics. Oxford: Blackwell; 1999. 54. Parens E, Asch A. The disability rights critique of genetic testing: reflections and recommendations. Garrison, NY: Hastings Cent Rep. 1999;29:S1–22. 55. Wertz DC, Fanos JH, Reilly PR. Genetic testing for children and adolescents: who decides? JAMA. 1994;272: 875–881. 56. Conrad P. Genetics and behavior in the news: dilemmas of a rising paradigm. In: Alper JS, Ard C, Asch A, Beckwith J, Conrad P, Geller LN, eds. The Double-Edged Helix: Social Implications of Genetics in a Diverse Society. Baltimore: The Johns Hopkins University Press; 2002:58–79. 57. Stockdale A, Terry SF. Advocacy groups and the new genetics. In: Alper JS, Ard C, Asch A, Beckwith J, Conrad P, Geller LN, eds. The Double-Edged Helix: Social Implications of Genetics in a Diverse Society. Baltimore: The Johns Hopkins University Press; 2002:80–101.

62. Hiller EH, Landenburger G, Natowicz MR. Public participation in medical policy-making and the status of the consumer autonomy: the example of newborn-screening programs in the United States. Am J Public Health. 1997; 87:1280–1288.

65. American College of Medical Genetics. Newborn screening: toward a uniform screening panel and system; 2005. Available at: http://mchb.hrsa. gov/screening. 66. Bailey DB Jr. Newborn screening for fragile X syndrome. Mental Ret Dev Dis Res Rev. 2004;10:3–10. 67. Gollust SE, Wilfond BS, Hull SC. Direct-to-consumer sales of genetic services on the Internet. Gen Med. 2003;5: 332–337. 68. Stone DH, Stewart S. For debate: Screening and the new genetics; a public health perspective on the ethical debate. J Pub Health Med. 1996;18:3–5. 69. Grosse SD Does newborn screening save money? The difference between cost effective and cost saving interventions. J Peds. In press. 70. Richards M. Annotation: Genetic research family life, and clinical practice. J Child Psychol Psychiat. 1998;39: 291–305. 71. Cunningham G. The science and politics of screening newborns. New Eng J Med. 2002;346:1084–1085.

58. Campbell E, Ross LF. Parental attitudes regarding newborn screening of PKU and DMD. Am J Med Gen. 2003; 120A:209–214. 59. Skinner D. Meanings of genetic diagnoses. Paper presented at the Society for Applied Anthropology Annual Meetings. Atlanta, GA: March 6–10, 2002. 60. Skinner D, Schaffer R. Families and genetic diagnoses in the genomic and internet age. Infants Young Child. In press.

