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Newborn Screening for Developmental Disabilities: Reframing Presumptive Benefit

| Donald B. Bailey Jr, PhD, Debra Skinner, PhD, and Steven F. Warren, PhDA fundamental tenet ofnewborn screening is thatscreening should lead to aproven benefit for the infant.The standard is usually con-strued as medical benefitthat significantly improves achild’s health. Screening formany conditions that causedevelopmental disabilitiesdoes not currently meet thisstandard.

We argue for expandingconcepts of presumptivebenefit. Newborn screeningprovides access to early in-tervention programs that areshown to positively influ-ence child development andsupport families. Consumerswant information about theirchildren’s health and theirown reproductive risk, andthey have a broader viewthan policymakers of whatconstitutes a treatable dis-order. Newborn screeningprovides other societal ben-efits that, in the absenceof data showing harm andwith appropriate attentionto ethical and legal issues,warrant consideration of anexpansion of targets fornewborn screening. (Am JPublic Health. 2005;95:1889–1893. doi:10.2105/AJPH.2004.051110)

NEWBORN SCREENINGtraditionally has been limitedto conditions for which there areidentifiable treatments known toalter the course of the disease.This precedent was establishedwith phenylketonuria, and everytask force that has consideredguiding principles for newbornscreening has affirmed the ne-cessity of treatment potentialand proven benefit to theinfant.1–6

However, the landscape ofgenetic testing is changing rap-idly.7,8 Advances in gene discov-ery and technology mean thatin the very near future, many dis-orders may be screened cheaplyand easily. When cheap and ac-curate methods for screeninghundreds of conditions are avail-able, will screening be done?Undoubtedly this question willlead to major public policy de-bates and will challenge currentguidelines for newborn screen-ing.9–11 The answer will dependon many factors, including thenature of the condition, ethicaland legal issues, positions heldby professional organizations,opinions of stakeholders, re-search, cost–benefit analyses, ad-vocacy efforts, court cases, andnew treatments.

Most disorders that could bescreened will be rare and haveno proven medical treatment. Ifthe principle of proven benefitfor the infant is applied, mostwould not be eligible for new-born screening under currentguidelines. We suggest that bene-fit historically has been con-strued too narrowly, considering

only those circumstances inwhich the infant’s health is muchimproved as a result of earliertreatment. In this commentary,we analyze screening for mentalretardation and developmentaldisability (MRDD) to suggest abroader conceptualization of thebenefits of newborn screening.

Hundreds of genetic causes ofMRDD have been identified inthe past decade, and more arelikely.12 For most, a cure or med-ical treatment is not currentlyavailable. However, we arguethat newborn screening for thesedisorders does the following:(1) it allows for earlier psychoso-cial or therapeutic interventions,the value of which has been doc-umented13–27; (2) it provides ac-cess to services that most parentsconsider helpful for their chil-dren; (3) it provides access tosupport services that can havepositive benefits for families;(4) it is consistent with literatureon consumer preferences for in-formation; and (5) it providesother societal benefits that, in theabsence of data indicating harm,justify their inclusion in newbornscreening.

NEWBORN SCREENINGALLOWS FOR EARLYPSYCHOLOGICAL ORTHERAPEUTICINTERVENTIONS

Neurobiological and behav-ioral research provides strong ev-idence of the primacy of theearly years and the efficacy ofearly intervention. Animal andhuman research documents the

neural development occurringduring the first years of life.13

Interactions with the environ-ment affect brain developmentin both “experience-expectant”and “experience-dependent”ways.14 Most likely this happensthrough transactional processesin which genotype, phenotype,and “environtype,” i.e., the envi-ronment as experienced by theindividual, interact to influenceeach other over time.15

There is widespread agree-ment that optimal environmentalinfluence on brain developmentdepends on the amount, quality,and timing of early experi-ences.16 Although learning oc-curs throughout life, plasticitydecreases over time, makinglearning more difficult.17 A Na-tional Academy of Sciences taskforce on the science of early de-velopment concluded that experi-ences during the first 3 years oflife exert a powerful influenceon future development.18

Mental retardation and mostdevelopmental disabilities are,by definition, disorders of thebrain.19,20 Abnormalities existearly in development, creatingthe potential for altered responsesto environmental stimuli, as wellas for maximum impact of appro-priately targeted experiences.Major literature reviews concludethat high-quality early interven-tion can influence the develop-ment of children with disabilities,with impressive effect sizes rang-ing from 0.40 to 0.75.21–24

Positive effects of early inter-vention have generally beenshown for children with MRDD

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irrespective of etiology or sever-ity. However, except for rela-tively common conditions (e.g.,Down syndrome, autism), ithas been logistically impossibleto determine the efficacy ofearly interventions for specificconditions. Because most geneticcauses of MRDD are rare, it isdifficult and expensive to study asufficient number of children.25

However, given the large degreeof overlap in learning and devel-opmental challenges across con-ditions26 and the established effi-cacy of early intervention withmixed-etiology groups,27 high-quality, individualized early in-tervention should have signifi-cant positive effects irrespectiveof etiology. Recognizing the effi-cacy of early intervention andthe accompanying need for ear-lier identification, the AmericanAcademy of Pediatrics recom-mends that pediatricians offerdevelopmental screening for allchildren.28

Research is still needed to doc-ument the optimal quality, tim-ing, and intensity of treatments.Also, professional practice needsimprovement to ensure that theeffects demonstrated in labora-tory contexts can be replicated inclinical practice. Randomizedclinical trials comparing earlierversus later treatments should beconducted. But we argue that ex-isting evidence of early interven-tion efficacy is sufficient to sup-port newborn screening across awide array of conditions associ-ated with MRDD.

NEWBORN SCREENINGPROVIDES ACCESS TOEXISTING SERVICES THATMOST PARENTS CONSIDEREFFECTIVE

Since 1986, the United Stateshas offered early intervention

services for infants and toddlerswith or at risk for disabilitiesthrough Part C of the Individu-als with Disabilities EducationAct. Early intervention is avail-able for children who have “es-tablished conditions” that willlikely lead to a delay, even if adelay is not yet evident. Thus,any child identified throughnewborn screening with such acondition would be eligible forPart C services.

Part C includes a wide rangeof individualized educational,therapeutic, and family supportservices.29,30 Parents uniformlyreport a high degree of satisfac-tion with early intervention ser-vices.31–33 A recent study of anationally representative sampleof more than 3000 familiesfound that most were very posi-tive about their child’s entry intoPart C programs, reporting rela-tive ease in accessing services,positive impressions of profes-sionals and services, and satisfac-tion with their involvement indecisionmaking.34 A follow-upstudy when the child reached 36months of age found that mostfamilies remained very satisfiedthroughout the early interven-tion experience, reporting a widerange of benefits for their chil-dren and themselves.35

Including conditions causingMRDD in newborn screeningwould not require a new pro-gram of services. Because theseconditions are rare, the numberof children identified wouldlikely not be an unreasonableburden on existing Part C ser-vices. Of course, early interven-tion professionals may need addi-tional training and technicalsupport so that they can helpfamilies understand these rareconditions and be aware of rec-ommendations for providing ap-propriate services.

EARLY INTERVENTIONHAS POSITIVE BENEFITSFOR FAMILIES

Having a child with MRDDalso poses challenges to families.Their child’s learning and be-havior problems, the need toadvocate for services, and theaccommodations often neces-sary in family life can result inmental health consequences,family disruptions, and financialburdens.36–38

Research suggests that earlyintervention can enhance theparents’ capacity to care for andteach their child, build advocacyskills, promote an optimistic viewof the future, improve familyquality of life, reduce stress, andenhance formal and informalsupports. This is especially truewhen early intervention pro-grams use a “family centered”approach and incorporate effec-tive help-giving practices.35,39–46

Thus, newborn screening notonly allows for treatment bene-fits for children but provides ac-cess to supports and services thatresult in measurable benefits tofamilies.

EXPANDING NEWBORNSCREENING IS CONSISTENTWITH RESEARCH ONCONSUMER PREFERENCESFOR INFORMATION

Those few studies that haveexamined consumer perspec-tives on newborn screening forMRDD broaden the parametersof what constitutes a “benefit.”A survey of parents of childrenwith fragile X syndrome (FXS)found that parents perceived in-formation as a key benefit ofscreening: information aboutFXS, their children’s specialneeds, appropriate services, andreproductive risks. Other bene-

fits were prevention of the “di-agnostic odyssey” and its finan-cial and emotional costs.47,48

In a view at odds with currentnewborn screening criteria, asurvey of 409 parents revealedthat 71% agreed that an impor-tant goal of newborn screeningwas to provide informationabout reproductive risks. Themajority also endorsed a rightto medical information, ser-vices, and referrals.49 An ethno-graphic study of 106 familiesreferred to a pediatric geneticclinic found that most endorsednewborn screening for a varietyof disorders. They did not con-strue the benefit of newbornscreening strictly in terms ofmedical treatment but as pro-viding information that wouldhelp them make decisions andgain early entry to appropriateeducational, therapeutic, andsocial services.50

In these and other studies,some consumers have indicatedan awareness of the risks thatbioethicists, social scientists, anddisability rights advocates havenoted as possible consequencesof genetic testing. These risks in-clude concerns about privacy ofinformation, insurance discrimi-nation, stigmatization of individu-als or groups, psychological dis-tress, endangerment of the parent-child bond, lack of adequatefollow-up to testing, and selectiveabortion.51–55

Despite these concerns, con-sumer demand for screening ishigh and likely to increase astechnology advances and advo-cacy groups and the mediapromote screening for variousdisorders.56,57 It is likely thatconsumers will not make thedistinctions between “treatable”and “untreatable” disorders thatare reflected in current newbornscreening criteria. Most parents

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also are at odds with the currentprinciple that screening shouldnot be done to inform reproduc-tive choice. Overall, parentsview information about theirown health status, reproductiverisk, and educational and thera-peutic services as major benefitsof newborn screening.48,49,57–60

There is some evidence thatprofessional and consumer viewsare growing closer on these is-sues. A recent task force reportargued that knowledge about ge-netic risk is “medically necessaryinformation” and that this consti-tutes a sufficient rationale forscreening even if direct medicalbenefit has not been proven.61

A survey of 499 primary carephysicians showed 90% agreeingthat information on reproductiverisk was an important goal ofnewborn screening.49

Consumers have traditionallybeen underrepresented on statenewborn screening advisoryboards or other decisionmakingbodies.62 However, recent rec-ommendations by task forcesand advocacy groups call for theinclusion of consumers on suchboards to ensure that those whohave directly experienced theimpact of a genetic disorderhave a voice in decisions aboutnewborn screening tests andpolicies.5,6,63 Consumer perspec-tives will also be important inaddressing issues that will ac-company expansions of newbornscreening. These include educat-ing consumers about newbornscreening in general; an in-formed consent process that pro-vides an adequate description ofthe types of disorders beingscreened for and the ramifica-tions of a positive diagnosis; and,for those diagnosed, access toappropriate information and sup-ports, including genetic counsel-ing and early intervention.

EXPANDING NEWBORNSCREENING COULDPROVIDE OTHERSOCIETAL BENEFITS

Thus far, we have argued forexpanding newborn screening toachieve a broader array of childand family benefits than havetraditionally been considered.But beyond advantages to the in-dividuals most directly affectedby MRDD, other societal benefitsare possible.

First, newborn screeningwould lead to increased knowl-edge about the incidence andrange of effects of particularconditions. For most rare dis-orders, we have a general esti-mate of incidence rate, but whenpopulation screening is not avail-able, these estimates may not beon the basis of representativesamples of sufficient size. Whenestimates of incidence are on thebasis of presenting cases in clini-cal practice, mildly affected (orperhaps unaffected) cases maynever be noticed and, thus, notrepresented. Screening newbornsprovides an optimal opportunityfor identifying all cases of a con-dition. More accurate incidencerates would provide critical infor-mation regarding the potentialimpact of a condition on society.Although milder cases may notneed treatment, studying mildlyaffected or unaffected individu-als would provide important sci-entific information that couldlead to a better understanding ofthe range of impacts of a condi-tion and potentially the mecha-nisms by which impact occurs.

Second, newborn screening al-lows for studies of the earliestdevelopmental patterns of partic-ular conditions and the onset ofneurological, physical, or behav-ioral features. Conditions such asFXS typically are not identified

until 2 to 3 years of age, makingprospective studies of infant de-velopment virtually impossible.47

Without this knowledge, re-searchers and clinicians have in-adequate information on whichto design appropriate treatmentsor decide whether there is apoint in development when thetiming of interventions wouldmaximize effectiveness. Studiesof early development would pro-vide important baseline dataabout typical patterns of develop-ment in untreated or under-treated circumstances againstwhich new treatments could becompared.

Third, newborn screening in-evitably will push a research anddevelopment agenda on newtreatments. Although an effectivetreatment is presently availablethrough Part C, we must assumethat even more effective inter-ventions can and will be devel-oped. As parents learn abouttheir child’s condition and realizethat little or no treatment re-search has been done on thatdisorder, advocacy efforts will in-crease. And as researchers andclinicians become aware of youn-ger cases of a condition, they,too, will begin exploring and test-ing earlier treatment options,ranging from applied researchon environmental interventionsto very basic research on genetherapy or targeted pharmaco-genetics (the use of genetic infor-mation to individualize pharma-ceutical treatments).

Finally, as additional or en-hanced treatments become avail-able, newborn screening couldpotentially provide faster accessto the families of affected individ-uals to test treatment efficacy. Ofcourse, concerns about privacymust be discussed, but a greatlyexpanded newborn screeningprogram would allow for more

rapid translational research andthe ability to offer new treat-ments without first having todevelop a means of identifyingthose in need of treatment.

DISCUSSION

Historically, the decision toscreen a newborn has been aconservative one, limited to thoseconditions where there is thepotential for medical treatment.Considering MRDD as a class ofconditions that could potentiallybe screened, we suggest expand-ing the concept of presumptivebenefit to include psychosocialand educational treatments forchildren, information and supportservices for families, and otherpotential societal benefits. Weshow that sufficient data existindicating the following: (1) mostconsumers want, as early as pos-sible, any information about acondition that might affect theirchild’s health or development;(2) most consumers differ frompolicymakers in their views ofwhat constitutes a “treatable”condition; (3) early interventionprograms can positively influencethe development and behaviorof many young children withdisabilities; (4) early interventioncan support families as theyadapt to the challenges of caringfor a child with MRDD; (5) anacceptable national program ofearly intervention already exists;and (6) other benefits to societyof early identification are likely tooccur. Thus, we argue that, in theabsence of data indicating harmas a result of newborn screening,a significant expansion of new-born screening is warranted.

We make this recommendationassuming the availability of highlyaccurate screening tests, afford-able testing to prevent inequitiesin who has access to expanded

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screening, a voluntary system ofscreening with informed consent,and adequate systems of follow-up and support for families.Privacy guidelines and stronglegislation must exist to preventdiscrimination as a result of genediscovery or disclosure.

Rapid changes in newbornscreening are inevitable, pushedby a combination of recent taskforce and government reports,gene discovery, new technology,advocacy efforts, and privatemarket forces.64–67 How will thepublic health system of Americareact? We argue for a proactivestance, rethinking the purposeand consequences of newbornscreening as a precursor to its ex-pansion. We recognize that in-tense debates will occur, withappropriate and inevitable dis-cussions about the purpose ofscreening, its cost effectiveness,the role of consumer demandin decision making, ethical issues,and legal concerns.68–71 The de-centralized nature of decisionmaking about newborn screeningin the United States means thatcreative efforts will be needed toorganize these discussions andprovide sufficient guidance sothat changes can occur in themost coordinated and rationalfashion possible.

About the AuthorsDon Bailey and Debra Skinner are withthe University of North Carolina, ChapelHill. Steve Warren is with the University ofKansas, Lawrence.

Requests for reprints should be sent toDon Bailey, FPG Child Development In-stitute, CB # 8180, University of NorthCarolina at Chapel Hill, Chapel Hill, NC27599-8180 (e-mail: don_bailey@unc.edu).

This commentary was accepted Janu-ary 30, 2005.

ContributorsD. Bailey originated the article and ledthe primary writing. D. Skinner wrote

the section on consumer preferences.S. Warren wrote the section on earlyintervention. All authors helped to con-ceptualize ideas and review drafts ofthe article.

AcknowledgmentsPreparation of this article was sup-ported in part by grants from the Na-tional Institute for Child Health andHuman Development (R21-HD043616)and the Ethical, Legal, and Social Impli-cations Research Program, NationalHuman Genome Research Institute(P20-HG003387).

This article was developed from apresentation at the National Center onBirth Defects and Developmental Dis-abilities Conference, Washington, DC,July 26, 2004.

Human Participant ProtectionNo protocol approval was required forthis study.

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