equality analysis: uk plan for rare diseases - · pdf file[hta] database , nhs economic ......
TRANSCRIPT
Equality Analysis: UK Planfor Rare DiseasesFebruary 2012
DH InFoRmAtIon READER BoX
PolicyHR/WorkforceManagementPlanning/PerformanceClinical
EstatesCommissioningIM&TFinanceSocialCare/PartnershipWorking
Document purpose Consultation/Discussion
Gateway reference 16959
title ConsultationontheUnitedKingdomPlanforRareDiseases
Author UKHealthDepartments
Publication date 29February2012
target audience PCTCEs,NHSTrustCEs,SHACEs,FoundationTrustCEs,MedicalDirectors,DirectorsofPH,DirectorsofNursing,AlliedHealthProfessionals,GPs,RoyalColleges,ScottishNHSBoards
Circulation list Specialistsocieties,academies&organisations,RoyalColleges,UKGTN,SpecialisedCommissioningGroups,Patient-relatedorganisations,charities.
Description ThisconsultationdocumentontheUKPlanforRareDiseasesisinresponsetothe2009EuropeanCouncilRecommendationonRareDiseases.TheconsultationhasbeendevelopedjointlybythefournationsoftheUK.TheconsultationresponseswillbeusedtodevelopthefinalUKPlanforRareDiseasestobepublishedlaterin2012.
Cross reference N/A
Superseded documents N/A
Action required N/A
timing Responses are invited to this consultation by 25 may 2012
Contact details SarahBramley-HarkerScreening&SpecialisedServicesTeamDepartmentofHealth,EnglandQuarryHouse,QuarryHill,LeedsLS27UE01132546708rarediseasesconsultationresponses@dh.gsi.gov.uk
For recipient use
Equality Analysis: UK Plan for Rare Diseases
February 2012
EqualityAnalysis:UKPlanforRareDiseases
1
IntroductionAnevidencereviewwasundertakenaspartoftheEqualityAnalysisfortheconsultationontheUKPlanonRareDiseases(UKPRD).TheaimoftheevidencereviewwastoestablishwhatpositiveandnegativeimpactstheUKPRDmayhaveupongroupswithprotectedcharacteristicsidentifiedbytheEqualityAct2010.Theterm“protectedcharacteristics”comesfromtheEqualityAct2010andcoversthefollowing:disability,sex,sexualorientation,race,age,genderreassignment,religionorbeliefandpregnancyormaternity.
Peoplewhosufferfromararedisease(definedasfiveorlesscasesper10,000population;TheCounciloftheEuropeanUnion,2009)arefacedwithanumberofobstaclesduetothesmallnumberofpeopleaffectedandthehighcomplexityofthediseases.Theseobstaclesincludebutarenotlimitedto(KoleandFaurisson,2010):(i)lackofscientificknowledgeoftheirdisease,(ii)lackofaccesstocorrectdiagnosis,(iii)delaysindiagnosis,(iv)lackofappropriatemultidisciplinaryhealthcare,(v)lackofqualityinformationandsupportatthetimeofdiagnosis,(vi)unduesocialconsequences,(vii)inequitiesanddifficultiesinaccesstotreatment,rehabilitationandcare,(viii)dissatisfactionwithandlossofconfidenceinmedicalandsocialservices,(ix)deniedtreatmentbyhealthprofessionalsand(x)lackofavailabilityoforphandrugs.
Theseobstacleshaveledtoinequalitiesinaccesstoandqualityofcarebetweenpeoplewhohaveararediseaseandtherestofsocietywhouse“mainstream”healthservices(KoleandFaurisson,2010).
Individuallythesediseasesarerare,buttherearemorethan5,000rarediseases,sothatcollectivelytheyadduptoasignificantproblemforagreatmanypeople.AsaresultofthistheEuropeanUnionhaveidentifiedrarediseasesasapriorityforactiontoimprovethecoordinationandcoherenceofplansandstrategiestotacklerarediseasesacrossEurope.ThiscollaborativeapproachbeingtakenbyMemberStatesacrossEuropeshouldimprovethequality/availabilityofcareandaccesstocareforpeoplewithrarediseases,thereforereducinginequalitiesthatexist.
Equalitymeansensuringthateveryindividualhasanequalopportunitytomakethemostoftheirlivesandtalents,andbelievingthatnooneshouldhavepoorerlifechancesbecauseofwhere,whatorwhomtheywereborn,whattheybelieve,orwhethertheyhaveadisability.
EqualityAnalysis:UKPlanforRareDiseases
2
ThegeneralequalitydutyintheEqualityAct(2010)requirespublicauthorities,intheexerciseoftheirfunctions,tohaveadueregardtotheneedto:
• eliminateunlawfuldiscrimination,harassmentandvictimisationandotherconductprohibitedbytheAct;
• advanceequalityofopportunitybetweenpeoplewhoshareaprotectedcharacteristicandthosewhodonot;
• fostergoodrelationsbetweenpeoplewhoshareaprotectedcharacteristicandthosewhodonot.
Asaresult,theUKPRDmustbeconsideredforitspotentialtoimpactonpeoplewhohaveprotectedcharacteristics.
Around80%ofrarediseasesareofgeneticoriginandthereforecanbelinkedwithparticularsexes,gendersordisabilities(Guillemet al.,2007).Rarediseasesareoftenidentifiedinchildhoodandthereforedisproportionatelyaffecttheyoungergeneration(ChiefMedicalOfficerforEngland,2009).Likewise,somerarediseasesareverydebilitatingandthereforetheyimpactonthefamily/carersofapersonwithararedisease.
TheUnitedKingdomalreadyhasastronghistoryofsupportingandtreatingpeoplewithrarediseases;throughhealthcareforcomplexconditions,worldclassresearchintorarediseases,andpatientorganisationswhoexpresstheneedsandprioritiesofpeoplewithrarediseases.
TheUKrecognisestheopportunitytobuildonthisposition,whileconsideringthebroaderEuropeancontextandthebenefitsofcross-bordercollaborations.TheUKisthereforesupportingaEuropeanCouncilRecommendationthatasksallMemberStatestodevelopanationalplanorstrategybytheendof2013.
TheNHSConstitution(England,buttheprinciplesarethesameinNorthernIreland,ScotlandandWales)statesthat:
“The NHS provides a comprehensive service, available to all irrespective of gender, race, disability, age, sexual orientation, religion or belief. […] It has a duty to each and every individual that it serves and must respect their human rights. Everyone counts. We will use our resources for the benefit of the whole community, and make sure nobody is excluded or left behind.”
TheconsultationontheUKPRDaimstoimproveco-ordinationofservices,resultinbetteroutcomes,strengthenresearchandmonitoringactivities,engageandempowerpatientsandtheirfamilies/carers,andraiseawarenessinthe
EqualityAnalysis:UKPlanforRareDiseases
3
publicandinprofessionals.Aswellasthistheplanwillencouragetherecognitionofdiversity,inotherwordsdifferencesamongstandbetweenindividuals.Diversityrecognisesthatweneedtoresponddifferentlytobothindividualsandtogroupsifwearetoprovideaccessibleservicestopromoteaninclusiveworkingenvironment.
ThereforewithinboththeNHSandbroadersocietalcontexttheUKPRDshouldhaveapositiveimpactonpeoplewithprotectedcharacteristicsasoutlinedbytheEqualityAct.Inordertoestablishifthereisanyevidencetothecontrary,aliteraturesearchwasconductedtoinvestigateanyimpactoninequalitiesbyrarediseases.
Search StrategyResearcharticleswereobtainedbyacomputerisedsearchinNHSEvidence:HealthInformationResources(2011,accessedfromwww.evidence.nhs.uk).NHSEvidencesearches:
• evidence-basedreviews(Bandolier,CochraneLibrary,DatabaseofAbstractsofReviewsofEvidence[DARE],HealthTechnologyAssessment[HTA]Database,NHSEconomicEvaluationDatabase[EED]andUKDatabaseofUncertaintiesabouttheEffectsofTreatments[DUETs]);
• guidance(ClinicalKnowledgeSummaries[CKS]formerlyPRODIGY,NationalLibraryofGuidelines,andselectedInternationalGuidelines);
• specialistcollections(collectionsofthebestavailableevidencefordifferentcommunitiesofpractice);
• books,journalsandhealthcaredatabases(AMED–AlliedandComplimentaryMedicines,BritishNursingIndex,CINAHL,EMBASE–ExcerptaMedicaDatabase,E-books,HealthBusinessElite,HealthManagementInformationConsortium,MedicalLiteratureAnalysisandRetrievalSystemOnline[MEDLINE]–U.S.NationalLibraryofMedicine,MyJournals,andPsycINFO).
Keysearchtermsusedwere;“raredisease*”,inequalit*,andeachoftheprotectedcharacteristicslistedabove.
EqualityAnalysis:UKPlanforRareDiseases
4
Thesesearchtermswereusedasoutlinedinthetablebelow.
Search Hits (with duplications)
Results (excluding duplications)
“raredisease*”andinequalit* 8 2relevanttitles
“raredisease*”anddisabilit* 158 6relevanttitles
“raredisease*”and(sexorgender) 465 2relevanttitles
“raredisease*”and(raceorethnic*) 186 3relevanttitles
“raredisease*”andage 3164.Searchwasrepeatedinthetitleonlyandyielded5results
2relevantarticles
“raredisease*”and“genderreassignment” 0 0relevanttitles
“raredisease*”and(“sexualorientation”orsexuality)
5 0relevanttitles
“raredisease*”and(religionorbelief) 11 1title,butrelevanttomaternity/pregnancy
0relevanttitlesforreligionorbelief
“raredisease*”and(pregnan*) 570 10relevanttitles
“raredisease*”and(carer*orfamil*) 1704.Searchwasrepeatedinthetitleonlyandyielded13results
1title,butrelevanttoethnicity
0titlesrelevanttofamilies/carers
Selecting and Reviewing EvidenceSearchresultswereinitiallyscreenedbytitletoreducethenumberofresults.Thebasisofthescreenwastoidentifyarticlesthatexaminedtheimpactofrarediseasesorararediseaseonthedefinedcategory(bothpositiveornegative).Articletitleswerealsoscreenedtoidentifyifrarediseasesorararediseasearelinkedwithmultiplecategories,forexample,rarediseasesindisabledchildren.
Theabstractsofselectedtitleswerereviewedtofurtherinvestigateifthearticlewasrelevanttotheobjectiveoftheliteraturesearch.Articleswhichweredeemedrelevantwereusedtoformtheevidencebelow.
Duetotimerestrictions,thefullarticlesselectedwerenotreviewedindetailformethodologicalquality.Articleswereonlyacceptedfromscholarlyjournalsthat
EqualityAnalysis:UKPlanforRareDiseases
5
arepeerreviewedorfromkeyrarediseaseorganisations(SpecialisedHealthcareAlliance,RareDiseaseUK,andtheEuropeanOrganisationforRareDiseases[EURORDIS]).Thiswastoensurethequalityoftheevidencearticlesidentified.
DisabilitySeveralstudieshaveshownthatalthoughsomerarediseasesdonotnecessarilyaffectlifeexpectancy,themajorityleadtophysical,emotionaland/orpsychosociallimitationswithawiderangeofdisabilities.Guillemet al.(2008)foundthat26%ofchildrenwithmental,sensorial,neurological(skeletalandneurological)impairmentshaveararedisease.
Itisalsotobeunderlinedthatrelativelycommonconditionscanhideunderlyingrarediseases,e.g.autism(inRettsyndrome,UshersyndrometypeII,SotosCerebralGigantism,FragileX,Angelman,AdultPhenylketonuria,Sanfilippo,…)orEpilepsy(Shokeirsyndrome,FeigenbaumBergeronRichardsonsyndrome,KohlschutterTonzsyndrome,Dravetsyndrome…).Formanyconditionsdescribedinthepastasclinicalonessuchasmentaldeficiency,cerebralpalsy,autismorpsychosis,ageneticoriginisnowsuspectedorhasalreadybeendescribed.Infact,ararediseasecanbemaskedbyahostofotherconditions,whichmayleadtomisdiagnosis(EURORDIS,2005).
GiventhelinkbetweenrarediseasesanddisabilitiesprogressingworkonrarediseasesshouldalsohaveapositiveimpactonpeoplewithdisabilitiesintheUK;particularlyaroundimprovingdiagnosisandreducingwhatisoftentermedas“diagnosticodyssey”(i.e.delay).Thiswillhelpimproveaccesstocareandreducethestressandanxietyassociatedwithalackofdiagnosis.
Sex/GenderThegeneticcausesofrarediseasescanaffectmalesandfemalesdifferently–forexamplesystemicsclerosis(scleroderma)isfourtimesmorecommoninwomenthaninmenandsystemiclupuserythematosus(SLE)isninetimesmorecommoninwomenthaninmen.
Insomecasesadiseasemayberareinonesexbutnotinanother.Forexample,malebreastcancerisclassifiedasararedisease,representingonly1%ofthetotalnumberofbreastcancersworldwide(Rudlowski,2008).
EqualityAnalysis:UKPlanforRareDiseases
6
AnyactiontoimprovetheUK’scurrentpositioninrelationtorarediseasesmaythereforedifferentiallyaffectmalesandfemales.However,thiswillbeduetotheneedsofpeoplewithrarediseasesandnotbecauseofanydiscrimination.
Race/EthnicityAspreviouslymentioned80%ofrarediseaseshaveageneticcausewhichmeansthattheycansometimesbemorecommonincertainracesandethnicities.Forexample,deSerres(2003)summarisedthatarticlesintheliteratureonalpha-1antitrypsin(AAT)deficiencyhavebeeninterpretedasindicatingthatAATdeficiencyisararediseasethataffectsmainlyCaucasians(whites)fromnorthernEurope.DeSerres(2003)goesontoreportthatarecentpublicationontheworldwideracialandethnicdistributionofAATdeficiency,newdatawerepresenteddemonstratingthatitisalsofoundinvariouspopulationsofAfricanblacks;ArabsandJewsintheMiddleEast;andCentral,FarEast,andSoutheastAsians,aswellaswhitesinAustralia,Europe,NewZealand,andNorthAmerica.
Similarly,FamilialMediterraneanfever(FMF)isanautosomalrecessivedisorder,characterisedbyshort,recurrentattacksoffeverwithabdominal,chestorjointpainanderysipelas-likeerythema.Itisanethnicallyrestrictedgeneticdisease,foundcommonlyamongMediterraneanpopulations,aswellasArmenians,Turks,ArabsandJews(LaReginaet al.,2003).
Theseexamplesshowthatrarediseasescanimpactoncertaingroupsinsocietyindifferentways.Thismeansthatworkingwithavarietyofethnicgroupscallsforethnicallysensitiveapproaches;largelyincommunication.
EngagementwithandempowermentofpeoplewithrarediseasesisakeytenetoftheUKPRD.Workonthisshouldremainsensitivetothedifferingneedsofpeoplewithrarediseases–thisincludeslanguageandculturalsensitivities.TheUKPRDwillstresstheimportanceofsupplyinginformationtopeoplewithrarediseases(andtheirfamilies/carers)inavarietyoflanguagesandformats.Treatmentandcarealsoneedstobehandledinaculturallysensitiveway,recognisingthattherecouldbeissuesarounddiet(Ramadam),gender,carers,providingbloodsamplesandsoon.
AgeAccordingtoEURORDIS(2007)75%ofrarediseasesaffectchildrenand30%ofthesechildrendiebeforetheageof5.Thereisalsogreatdiversityintheageatwhichthefirstsymptomsoccur.Symptomsofmanyrarediseasesappearat
EqualityAnalysis:UKPlanforRareDiseases
7
birthorinchildhood,includingInfantileSpinalMuscularAtrophy,Neurofibromatosis,OsteogenesisImperfecta,Rettsyndromeandmostmetabolicdiseases,suchasHurler,Hunter,Sanfilippo,MucolipidosisTypeII,Krabbediseases,Chondrodysplasia.
Insomecases,thefirstsymptomsofthedisease,suchasNeurofibromatosis,mayoccurinchildhood,butthisdoesnotpreventmuchheaviersymptomstooccuratalaterstageoflife.Otherrarediseases,suchasHuntingtondisease,SpinocerebellarAtaxias,Charcot-Marie-Toothdisease,AmyotrophicLateralSclerosis,Kaposi’sSarcomaandthyroidcancer,arespecifictoadulthood.Whilstmanydiseasescausesymptomsinchildhood,thesesymptomsmaynottranslateintoaspecificrarediagnosisforyears.(EURORDIS,2005).
Oneareaofdifficultyhighlightedbypeoplewithrarediseasesistheprogressionfromchildhoodtoadulthood.Limb,NuttandSen(2010)foundthatalmost30%ofpatientsreportedexperiencingproblemsinthetransitionfrompaediatrictoadultservices.Manyoftheseproblemslaywiththewayinwhichservicesaredeliveredandunmetneedsduringthisdifficultperiodinaperson’slife.ThistransitionbetweenpaediatricandadultservicesisakeyareaofactionfortheUKPRD.Theplanstressestheimportanceofnetworksofcarewhichsupportpeoplewithrarediseasesthroughoutthelife-courseandreducedisruptionstotheircare.
Theimpactofrarediseasesinchildrenisfargreaterthanontheindividualbecauseitimpactsontheirparentsandotherfamilymemberstoo.Anumberofstudiescitetheneedtoconsiderthewider/holisticneedsofachildandtheirfamily/carers,thatspreadfrompurehealthneedstosocialneeds–familyrelationships,economicwell-being,dailyliving(GaitePindadoet al.,2008).
Gender ReassignmentNoarticleswereidentifiedwhensearchingforgenderreassignmentandrarediseases.GenderDysphoriaServicesarecurrentlycommissionedasaspecialisedserviceinEnglandbySpecialisedCommissioningGroupsasdefinedwithinthe3rdeditionoftheSpecialisedServicesNationalDefinitionsSet.
SubjecttothepassageoftheHealthandSocialCareBillthroughParliament,inEngland,itistheGovernment’sintentionthatspecialisedserviceswillinfuturebetheresponsibilityoftheNHSCommissioningBoard.Bycommissioningspecialisedservicesinthiswayitisexpectedthatanysuggestionsofa“postcodelottery”willend.NofinaldecisionshavebeentakenonGenderDysphoriaServices.
EqualityAnalysis:UKPlanforRareDiseases
8
Sexuality/Sexual orientationNorelevantarticleswereidentifiedwhensearchingforsexualorientation/sexualityandrarediseases.
Religion/BeliefNorelevanttitleswereidentifiedwhensearchingforreligion/beliefandrarediseases.
However,theconsultationontheUKPRDcontainsrecommendationsaroundGeneticTestingandScreeningwhichcanoftenraiseethicalquestions.ThereisaUKGeneticTestingNetworkwhichadvisestheNHS(GeneticsCommissioningAdvisoryGroup)ongenetictestingandaUKNationalScreeningCommitteewhichadvisesministersonscreening.Eachofthesecommitteesprovideexpertadviceandwillconsidereachgenetictest/screeningprogrammeontheirownmerits.
Therefore,systemsarealreadyinplacetoconsiderandmanageanyethicalissuesthatmayarise.
maternity/PregnancyPregnancyinpeoplewithrarediseasescanoftenbeachallenge.ForexampleHereditaryangioedematypeIII(HAE)isararediseasewhichoftenaffectsyoungwomenandduringpregnancy,symptomsworsenedfor50%ofthem.Somedeliveriescanbeverydifficultwithstillbirth(Bouillet,2010).
Pregnancycanbeparticularlydifficultforwomenwithdiseasesaffectingtheimmunesystem.Pregnanciesinpatientswithsystemiclupuserythematosus(SLE)aremostlysuccessfulwhenwellplannedandmonitoredinterdisciplinarily,whereasasmallproportionofwomenwithantiphospholipidsyndrome(APS)stillhaveadversepregnancyoutcomesinspiteofthestandardtreatment.Newprospectivestudiesindicatebetteroutcomesforpregnanciesinwomenwithrarediseasessuchassystemicsclerosis(scleroderma)andvasculitis.Fertilityproblemsarenotuncommoninpatientswithrheumaticdiseaseandneedtobeconsideredinbothgenders(Ostensenet al.,2011).
Pregnancyamongstwomenwithararediseaseisanareawhereresearchisincreasing,particularlyaschildrenwithrarediseasessurvivechildhood(throughimprovedmanagement)andmoveintoadulthood.Forexample,Glatteret al.(2005)describesuccessfulpregnanciesintwowomenwithPosturalorthostatictachycardiasyndrome(POTS)which(atthetime)werethoughttobethefirst
EqualityAnalysis:UKPlanforRareDiseases
9
reportsofthis.TheconsultationontheUKPRDhasastrongemphasisonresearchanddevelopingtheevidence-basewhichshouldresultinimprovedcareforpeoplewithrarediseases.
Around80%ofrarediseaseshaveidentifiedgeneticorigins,involvingoneorseveralgenesorchromosomalabnormalities.Theycanbeinheritedorderivedfromanewgenemutationorfromachromosomalabnormality.Theyconcernbetween3%and4%ofbirths(EURORDIS,2005).
ThereareanumberofantenatalandnewbornscreeningprogrammesofferedacrosstheUK(thesedovaryfromcountrytocountry)thatcoveranumberofrarediseases.Thishasthepotentialtoimprovehealthoutcomesbyminimisingmortalityandmorbidity,andforsomeconditionsalertingparentstotheirrisksofhavingotheraffectedchildren.Equityofuptakeoftesting/screeningisoftenanissue.Allscreeningprogrammesshouldbeassessedfortheirequityofuptake.
Somerarediseasescanbepreventedthroughimproveddietsinpregnancy,reducingtheriskofinfections,andavoidinghazardspreconceptionandduringpregnancy(Taruscioetal.2011).Forexample,preventingsomebirthdefects(suchasneuraltubedefects)withfolicacidduringpreconceptionandthefirsttrimesterthroughimproveddietsand/orvitaminsupplements.TheUKPRDsupportseffortstopreventrarediseasesfromoccurringwherepossible.
CarersWallenius,MollerandBerglund(2009)studied(n=2,983)thephysical,psychosocial,emotionalandfinancialimpactofhavingararediagnosis.Theresultswerepresentedunderthecategories‘contactswithhealthcareandsociety:‘consequencesofgettingthewrongdiagnosis’,‘familyexperiencesindailylife’,‘extraexpensesrelatedtotherarediagnosis’and‘positiveeffectsofhavingararediagnosis.’Theresultshowedthatthesegroupsareatriskofbeingtreatedarbitrarilywhenneedingservicefromthesociety.Therespondentsalsoreportedthehighpriceofhavingararedisease;bothonmonetarycoststotheindividual,andtimecoststofriends,familiesandcarers.Thestudyconcludedbysuggestingthatthecarethatindividualsreceivefortheirrarediseasecanbearesultofchanceandcoincidence,ratherthanco-ordinatedandconsistentcare.
Notonlydorarediseasesimpactuponthequalityoflifeforpeoplewithadisease,theyalsohaveamajorimpactuponcarersofpeoplewithadisease(Rajmil,Perestelo-PerezandHerdman).
EqualityAnalysis:UKPlanforRareDiseases
10
Dellveet al.(2006)foundthatbyempoweringtheparent/carersofchildrenwithrarediseases(throughanintensivefamily[andcarer]competenceintervention)therewasdecreasedstrain(particularlyamongworkingmothersandfathers),increasedperceivedknowledge,andimprovedoveralllifesatisfaction.GiventhatakeystrandoftheconsultationontheUKPRDistoimprovepatient/family/carerempowermentthenthisshouldhaveapositiveimpact.
GeographyThefundingfordrugsandservicesformanagingandtreatingrarediseasesvariesacrossEuropeandwithintheUKandthishasledtogeographicalvariationsinaccesstocare(Hughes,TunnageandYeo,2005).
Limb,NuttandSen(2010)highlightedinequalitiesintheservicesreceivedbypatientswithdifferentrarediseasesandevenbetweenthoseaffectedbythesamerarediseaseindifferentpartsoftheUK.Thesegeographicalvariationsaredifficulttomanageacrossbordersandevenwithincountries,howevertheUKPRDshouldreducethesevariationsbyencouragingcollaborationsandnetworking.
InEngland,subjecttothepassageoftheHealthandSocialCareBillthroughParliament,specialisedserviceswillinfuturebetheresponsibilityoftheNHSCommissioningBoard,mandatedbyministers.Thiswillensurethatallpatientscanaccessequitablehighqualityservices,regardlessofwhichrareconditiontheyhaveandregardlessofwheretheylive.Itwillensurecomprehensivearrangementsforallrarediseasesandisexpectedtoendanysuggestionsofa“postcodelottery”.
ConclusionTheinequalitieshighlightedbytheevidencereviewrelatetotheinequalitiesthatexistinaccesstotreatmentandsupportforpeoplewithrarediseasesandtherestofsocietywhoaccesstheNHS.TheaimoftheUKPRDistobegintoreducethisinequalitythroughbetterco-ordinationandcollaborationwithintheUKandalsoacrossborderswithEuropeanpartners.
Theevidencereviewhighlightedthatthemainsourceofinequalitycomesfromhavingararedisease,notexplicitlyfromhavinganyprotectedcharacteristicsoutlinedbytheEqualityAct2010.Theevidencereviewshowedthatrarediseasesareassociatedwithanumberofprotectedcharacteristics;therefore,anyimprovementintheUK’sactiononrarediseaseswillalsoleadtoanimprovementforpeoplewithprotectedcharacteristics.
EqualityAnalysis:UKPlanforRareDiseases
11
Thereisevidencethatinvestinginimprovingidentification,managementandtreatmentinrarediseasescansavesocietyandthehealthservicemoneybyimprovingthequalityoflifeforpeoplewithrarediseasesandtheircarers,reducingmorbidityandmortalityandreducingdemandonhealthservices.(Olauson,2002;ToscaniandRiedl,2011).
AsurveybyEURORDIS(EurordisCare2)focusingondiagnosticdelaysforrarediseases,hasrevealedthat,forEhlersDanlossyndrome,oneoutoffourpatientswaitedformorethan30yearsbeforebeinggiventherightdiagnosis.Fortypercentofpatientsparticipatinginthesurveyreceivedawrongdiagnosisbeforebeinggiventherightone.Amongthem:
• oneoutofsixunderwentsurgicaltreatmentbasedonthiswrongdiagnosis;
• oneoutof10underwentpsychologicaltreatmentbasedonthiswrongdiagnosis.
Theconsequencesofdiagnosisdelaycanbe:
• otherchildrenbornwiththesamedisease;
• inappropriatebehaviourandinadequatesupportfromfamilymembers;
• clinicalworseningofthepatient’shealthintermsofintellectual,psychologicalandphysicalcondition,evenleadingtothedeathofthepatient;
• lossofconfidenceinthehealthcaresystem.
ThisstrengthenstheargumentthattheUKPRDshouldhaveapositiveimpactonpeoplewithrarediseases,andoften(asillustratedabove)peoplewithrarediseasesfallintotheprotectedcharacteristicsidentifiedbytheEqualityAct2010.
InordertoensurethattheUKPRDdoesnotinadvertentlyexacerbateexistinginequalities(i.e.differentialaccesstoservicesbetweengroupswhohaveararediseasee.g.geographicallydifferentaccess)theplanshouldencourageequityauditaspartofroutinerarediseaseactivity.Thiscouldbedonebythroughimprovedrecordingandmonitoringofprotectedcharacteristicsindiseaseregisters,inservicedelivery(andcareco-ordination)andinaccesstomedication/healthtechnologies.Inaddition,anyscreeningprogrammesendorsedbytheUKNationalScreeningCommitteeshouldcontinuetobeassessed/auditedforfair/equalaccess.
EqualityAnalysis:UKPlanforRareDiseases
12
EngagementwithandempowermentofpeoplewithrarediseasesisakeytenetoftheconsultationontheUKPRD.Workonthisshouldremainsensitivetothedifferingneedsofpeoplewithrarediseases–thisincludeslanguageandculturalsensitivities.TheUKPRDwillstresstheimportanceofsupplyinginformationtopeoplewithrarediseases(andtheirfamilies/carers)inavarietyoflanguagesandformats.
ReferencesBouilletL.,Boccon-GibodI.,PonardD.,DrouetC.,CesbronJ.,Dumestre-PerardC.,LunardiJ.,MonnierN.,MassotC.management of pregnant women with hereditary angioedema type III Allergy:EuropeanJournalofAllergyandClinicalImmunology,June2010,vol./is.65/(448).
ChiefMedicalOfficerforEngland(2009)Chief medical officer for England, Annual Report 2009: Rare is Common,England:DepartmentofHealth.
Dellve,Lotta,Samuelsson,Lena,Tallborn,Andreas,Fasth,Anders,Hallberg,LillemorR.–MStress and well-being among parents of children with rare diseases: A prospective intervention study.JournalofAdvancedNursing,022006,vol./is.53/4(392-402).
deSerresFJAlpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosedEnvironmentalHealthPerspectives,01December2003,vol./is.111/16(1851-1854).
ElliottE.J.,NicollA.,LynnR.,MarchessaultV.,HirasingR.,RidleyG.Rare disease surveillance: An international perspectivePaediatricsandChildHealth,2001,vol./is.6/5(251-260),1205-7088(2001).
EURORDIS(2005)Rare Diseases: understanding this Public Health Priority,EuropeanOrganisationforRareDiseases.
GaitePindadoL.,GarciaFuentesM.,GonzalezLamunoD.,AlvarezJ.L.needs in rare diseases during paediatric age [Spanish] necesidades en las enfermedades raras durante la edad pediatrica AnalesdelSistemaSanitariodeNavarra,2008,vol./is.31/SUPPL.2(165-175).
GeninE,Tullio-PeletA,BegeotF,LyonnetS,AbelLEstimating the age of rare disease mutations: the example of triple-A syndrome JournalofMedicalGenetics,Jun2004,vol./is.41/6(445-9).
EqualityAnalysis:UKPlanforRareDiseases
13
GlatterKA,TutejaD,ChiamvimonvatN,HamdanM,ParkJKPregnancy in postural orthostatic tachycardia syndromePacing&ClinicalElectrophysiology,01June2005,vol./is.28/6(591-593).
GuillemP.,CansC.,Robert-GnansiaE.,AymeS.,JoukP.S.Rare diseases in disabled children: An epidemiological survey,ArchivesofDiseaseinChildhood,Feb2008,vol./is.93/2(115-118).
HughesD.A.,TunnageB.,YeoS.T.Drugs for exceptionally rare diseases: Do they deserve special status for funding?QJM–MonthlyJournaloftheAssociationofPhysicians,Nov2005,vol./is.98/11(829-836).
KoleA.,FaurissonF.Rare diseases social epidemiology: Analysis of inequalities,AdvancesinExperimentalMedicineandBiology,2010,vol./is.686/(223-250).
LaReginaM.,NuceraG.,DiacoM.,ProcopioA.,GasbarriniG.,NotarnicolaC.,Kone-PautI.,TouitouI.,MannaR.Familial mediterranean fever is no longer a rare disease in ItalyEuropeanJournalofHumanGenetics,Jan2003,vol./is.11/1(50-56).
Limb,L.,Nutt,S.,Sen,A.(2010)Experiences of Rare Diseases: An insight from patients and families,England:RareDiseaseUK.
LyonsT.R.,SchedinP.J.,BorgesV.F.Pregnancy and breast cancer: When they collide JournalofMammaryGlandBiologyandNeoplasia,2009,vol./is.14/2(87-98).
OlausonA.the Agrenska centre: A socioeconomic case study of rare diseasesPharmacoEconomics,2002,vol./is.20/SUPPL.3(73-75).
OstensenM.,BrucatoA.,CarpH.,ChambersC.,DolhainR.J.E.M.,DoriaA.,ForgerF.,GordonC.,HahnS.,KhamashtaM.,LockshinM.D.,Matucci-CerinicM.,MeroniP.,NelsonJ.L.,ParkeA.,PetriM.,RaioL.,Ruiz-IrastorzaG.,SilvaC.A.,TincaniA.,VilligerP.M.,WunderD.,CutoloM.Pregnancy and reproduction in autoimmune rheumatic diseases Rheumatology,April2011,vol./is.50/4(657-664).
RajmilL.,Perestelo-PerezL.,HerdmanM.Quality of life and rare diseases AdvancesinExperimentalMedicineandBiology,2010,vol./is.686/(251-272).
EqualityAnalysis:UKPlanforRareDiseases
14
RudlowskiCmale breast cancer BreastCare,01July2008,vol./is.3/3(183-189).
TheCounciloftheEuropeanUnion(2009)CoUnCIL RECommEnDAtIon of 8 June 2009 on an action in the field of rare diseases,OfficialJournaloftheEuropeanUnion.
TaruscioD.,CarboneP.,GranataO.,BaldiF.,MantovaniA.Folic acid and primary prevention of birth defects BioFactors,July;August2011,vol./is.37/4(280-284).
ToscaniM,RiedlM.meeting the challenges and burdens associated with hereditary angioedema.ManagedCare,Sep2011,vol./is.20/9(44-51).
WalleniusE,MöllerK,BerglundB.Everyday impact of having a rare diagnosis. A questionnaire study.NordicJournalofNursingResearch&ClinicalStudies/VårdiNorden,01September2009,vol./is.29/3(13-17).
© Crown copyright 2012
2900004 Feb 2012
Produced by Williams Lea for the Department of Health
www.dh.gov.uk/publications