Equality Analysis: UK Plan for Rare Diseases - · PDF file[HTA] Database , NHS Economic ......

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Superseded documents N/A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

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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.


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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


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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.


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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


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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).


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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


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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.


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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


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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).


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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.


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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.


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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).


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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).


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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).

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