Ethical, legal and health economic aspects of neonatal screening

P Riis

Council of Europe, Protocol Group for Biomedical Research in Man, Hellerup, Denmark

Riis P. Ethical, legal and health economic aspects of neonatal screening. Acta Pædiatr 1999; 88Suppl 432: 96–8. Stockholm. ISSN 0803–5326

The spectrum of the title of this work is wide, but necessarily so, because of the increasinginteraction of the three key components—ethics, law and health economy—in all parts of healthsystems. Although by nature the key components are different, they are still interdependent.Ethics,as the overall term for values, norms and attitudes of democratic societies, is the basic referencefor our controlling of our personal lives, our lives with each other, and our lives with societyinstitutions in the broadest sense. Ethics is the cambrium for control with our general behaviour,but is at the same time the cambrium for the control mechanisms of societies, as expressed innational laws. Health economicsis often considered a necessary but value-free part of thespectrum, in accordance with money’s very material nature. And yet economics and other resourceelements (as organs for transplantation or numbers of special experts) have a strong link to ethicsvia so-called distributional ethics (“we are able to do more than we can afford”). The main themefor this introduction is ethics. In neonatal screening it relates to two different aspects: one linkedto the neonate as an individual who can benefit from early diagnosis of treatable diseases, the otherto the neonate as a member of a family line, enabling geneticists later to use the results for geneticmapping of a whole family or of large societal groups.& Ethics, health economics, legal aspects,neonatal screening

P Riis, Council of Europe, Protocol Group for Biomedical Research in Man, 7 Nerievej, DK-2900Hellerup, Denmark (Tel.�45 396296, fax.�45 39629588)

This introduction and its title cover a wide spectrum dueto the fact that its three main components,ethics, lawandhealth economics, interact more and more in healthsystems around the world. Although these componentsbelong in different conceptual universes they arebecoming more and more interdependent.

Ethics belongs to the immaterial world, being anoverall term for values, norms and attitudes in demo-cratic societies. It represents the basic reference for ourcontrolling (or at least setting the aim and course for)our personal lives, our lives with each other, and ourlives with societies’ institutions in the broadest sense.At the same time ethics is the cambrium for societies’control mechanisms as expressed in our nationallaws.Often the third component,health economics, isconsidered a necessary but value-free part of thespectrum, because money at face value is paradoxicallyvalue-free when values in the present context coverimmaterial values. Yet economics, and other resourceelements, has a strong link to ethics via so-calleddistributional ethics (“we can more than we canafford”). In this point, material and non-material valuesmeet.

Considering the succeeding contributions to thesymposium relating ethics to judicial and economicaspects of neonatal screening, the present introductiondeals with theoverall relationships and leaves theprojections to daily preventive measures to be dealt with

by subsequent contributions. Further, the natural plat-form for the introduction is the Nordic countries andtheir political systems, yet with a glance to a widerglobal perspective.

DefinitionsThe second and third keywords of the title usually donot give rise to semantic problems, but ethics does,because its re-entry as a concept is relatively new, andbecause its use nowadays does not build on anuninterrupted tradition. Consequently, ethics is definedin many different ways, ranging from the semantics ofthe corresponding term from classical history, meaning“the good life”, to today’s more value-neutral defini-tions; for instance, “behaving nicely”.

In this introduction, ethics is defined as the sum offundamental principles, underlying and combining thevalues, norms and attitudes accepted by a majority of ademocratic population, and determining the structure ofour personal lives, our lives with each other, and ourlives with societies’ institutions, as stated earlier. Thisdefinition has an inherent weakness, because itscomponents need further sub-definitions: values beingimmaterial values lying behind our personal concepts ofthe quality of life, norms being cut-off points on value-spectra, and attitudes being fundamental principles of

Scandinavian University Press 1999. ISSN 0803-5326

Acta Pñdiatr Suppl 432: 96±8. 1999

personalnature,taking over when generallyacceptedvaluesandnormsdonotpersonallysuffice.Despitethis“onion-peeling”natureof complexdefinitions(i.e. youneverreacha solid center),they arestill preferabletooverallconceptsthatareoftenalmostemptydueto theirlinguistic andlogic generality.

Lawsin therestrictednationalsensedo not poseanydefinitoryproblems.But, asshallbeshownlater,todaythe judicial concepthas obtaineda surroundinggreyzonein the form of directives,conventions,guidelines,recommendations,notifications,etc.,interferingwith oroverrulingnationallaws in casethey expresssuprana-tional setsof regulations.

Healtheconomicscomprisesall necessaryresourcesfor research and intervention (i.e. in diagnosing,treating, preventing and informing about diseases).Furthermore,in the global perspective,resourcesarerestrictedeverywhere,despitedifferent nationalhealthsystemsandlevelsof GNPs.

InteractionsEthics is the most fundamental part of the triad,comprisingethics, laws and healtheconomics,rootedasit is in man’smaterialandexistentialhistory.Ethicsis most often renewed and supplementeddue topreceding, serious transgressionsof traditional, butnon-written limits. Well-known examples are theFrench and the North-American Declaration/Bill ofHuman Rights, the United Nation’s Declaration ofHumanRightsandtheHelsinki Declaration,createdasreactionsto theatrocitiesof the fascisticpowersof theSecondWorld War. Further steps taken from othertransgressionsareconventionson children’srights andthenewBioconventionof theCouncil of Europe(1).

Usually, ethics, accepted by a society and itspoliticians, is later transformedto national laws inappropriateareas.An exampleis the principlesof theDeclarationof Helsinki, which in somecountrieshavebeentransferredto a nationallaw (2–4).This exampleshowswhy ethicsin the presentintroductionis namedthecambriumof laws.

Health economywould not interact with the othertwo componentsif resourcesfor healthsystemswereunlimitedin all countries.As everyoneknows,however,this is not so, even in the most affluent societies.Consequently,prioritizationandrationingarenecessaryif two fundamentalethicalvalues—equityandjustice—areto be respected.

All the interactions mentioned are applicable indecisions concerning neonatal screening, with theadditional elementof critical technologyassessment,asa basisfor prioritization,or in otherwordsasa toolfor applyingprinciplesof distributionalethics.

NeonatalscreeningScreening as a medical term is used in different

contexts. Originally a word for sorting stones intodifferent sizes,the term is bestapplied in the narrowsense,as mass screening,which is precisely whatneonatalscreeningis: namely,to find treatabledisordersin a total populationof newborns.Screeningin riskfamilies, prenatal,perinatal or in later childhood, isconsequentlyomittedfrom this survey,despiteseveralcommonethicalandeconomicsimilaritieswith neona-tal massscreening.

Theethicscomprisesseveralcharacteristicsthathaveto beconsideredbeforelegalandeconomicaspectsareintroducedto political decision-making.Thefirst is theseverityof the prognosisin untreatedcasesof a givendisease.The next oneis the existenceof preventiveortherapeuticinterventions.Severecasesthat cannotbeinfluenced by any intervention are better left to atraditional chain of events: symptoms leading tomedicalattention,further leadingto diagnosis.

Further steps in ethical analysis are the nationalpotentials and political possibilities for offering thescreeningto all newborns,and not just to privilegedsocial strata.In other words, respectfor fundamentalethical values, equity and justice, during a laterimplementation.

If all ethicalconditionsarefulfilled (with anexpectedaccessfor all newbornsalready linked to the latereconomicandpolitical level), costsmustbeevaluated,i.e. the ratio betweenexpensesandyield. This propor-tion is usuallycalculatedascostsin monetaryunitsandyield on a qualitative scale (for instance,how manylives or casesof disability can be saved)and not theequivalentresourcessavedvia treatmentor preventivemeasuresin diagnosedpositivecases.In otherwords,itis a cost–benefitcalculationof both quantitativeandqualitative data. Sometimesan approximation to aquantitative calculation is made by expressingthenumberof casesnecessaryto screenbefore one caseof deathor disability is saved.

When politicians ultimately receive the ethical,technical and economic facts, their job is to decidewhethera givenprogramof neonatalscreeningis to beimplemented.This roadto possiblelegislationis not aneasyone.Professionalsoutsidethe project group willinterfere with the underlying technologyassessment,themediawill exerttheirpressurethroughsinglepatientstories,public critics will be warningagainst“patient-ification” of participants,patientassociationswill actaspressuregroupsandmanyothersocietalsectorsoutsidethehealthsystemwill fight for their sharesof theGNP.Not surprisingly,politiciansoften feel squeezedby alltheseforcesandcounter-forces,while theystrive to setpriority in accordancewith good distributionalethics,again comprising the main constituents,fairnessandopenness.

Increasingimportanceof distributionalethicsIn the precedingsection,someof the manyinteracting

ACTA PÆDIATRSUPPL432(1999) Ethical, legal andhealtheconomicaspectsof neonatalscreening 97

forces around political decision-makerswithin thehealthsectorwere mentioned.Here a lesshaphazard,andmoreideal,line of inputsfor layingdownstrategiesof neonatalscreeningis outlined.

First, the approriatehard facts haveto be procuredfrom the global scientificliterature(or createdthroughnew,nationalprojects;seelater). Here,morethanoneindependentassessor(or assessinginstitution) oughttobe involved before starting; for instance,a nationalscientific society as a supplementarybody. Beinginvolvedfrom thestartmeanspreventionof later “civilwars” startedby the mediaand/orcompetingpoliticalparties.

Second,the ethicalaspectsoughtto be evaluatedbyinstitutionsor personswith experiencein both ethicaland scientific analysis. A second look would beappropriatehere,too.

Third, types,costsand perspectivesof competitiveareas,e.g.vaccinationprogramsfor children,ought tobepartof thepublicdebatein orderfor thepopulationtobecome accustomedto distribution dilemmas as anatural, and thus unavoidable, constituent of thedemocraticdecisionprocess.At present,severalpopu-lation groups have adoptedthe illusion that once aresource-consuminginitiative is backedup by favour-ablearguments,thenecessarymoneymustbefound,asif thereweresecretminesthatcanalwaysbeopenediftheneedoccurs.

NeonatalscreeningandresearchethicsAs in other fields of biomedicine,an important, butoftenlacking,elementof policy-makingis beingabletoaccessreliable scientific evidenceon the benefitsandnegativeaspectsof neonatalscreening.This vacuumofknowledgecreatesa needfor startingprojectsthatwillincreasethe quality of technologyassessmentswithinthe field. In other words, initiating researchbeforedecisionson national strategiesare taken is ethicallymotivated.

Here,however,suchplansoftenmeetcounter-activeethical reasoning,basedon the assumptionthat theprojectswill createfear of illness in the participatingfamilies,especiallyat a stagewhenneithertheultimateresultsof a trial projectnor thefalse-negativeandfalse-

positive results are known. In this way, scientists,researchethicscommitteesand healthpolicy plannerswill find themselvesin a catch-22situation: to makeethically right decisionson neonatalscreeningtheyneed researchresults, but obtaining such results isblocked by other ethical arguments.The resultingdilemmanecessitatesweighingof ethicalprosandcons,which is a normalpart of researchethicalanalysis.Atthis point, however, there is a further complication,becausesociety groups behind the pro and the constandpointsare sharply demarcated,the con groupsusuallyspeakingat a higherpitch.

When, despite the dilemmas, researchersand re-searchethicscommitteeshavepassedthis obstacle,awell-known further “road bump” hasto be passed:thenewborn child’s lack of capacity to consent to itsparticipation.Hereresearchethicalcontrol bodiesrelyontheinformedconsentof theparent(s),asis thecaseinall otherprojectsinvolving small children.

Another ethical circumstance,sometimespart of ascreeningproject,is the light shedon theparents’,andotherrelatives’,geneticdispositions,via the resultof anew neonatalscreening.What is sometimesforgotten,however,is the fact that the price of not knowing, i.e.non-participationin a project or a subsequentgeneralscreening,will bea later“diagnosisby appearance”in ageneticallydispositionedchild.

Onceagain it has to be concludedthat no relationbetweenbenefitsandriskswithin the healthsectorcanbeexpressedin absoluteterms,but only relatively,asaconsequenceof thehugebiologicalandsocialvariationthat constantly influences man’s life, even in verydevelopedandvery controlledcountries.

References1. Council of Europe.Conventionon HumanRightsandBiomedi-

cine,Oviedo,19972. World MedicalAssociation.TheDeclarationof Helsinki. Helsin-

ki: 1975andsubsequentadditions3. Danish Act No. 503 of June 24, 1992 on a Scientific Ethical

CommitteeSystemand the Handling of Biomedical ResearchProjects

4. DanishAct No.499,whichcameinto forceonOctober1,1996is asupplementto Act No. 503

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