karen harrison karen@aldlife - aidanhasaposse.org€¦ · karen harrison [email protected] my...
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MyFamily
• FatherdiagnosedwithAddison’sdisease• Identicaltwinsonsdiagnosedage6• Femalecousinisacarrier,daughterstatusunknown
• MalecousinhasAMNandtwoobligatecarrierdaughters
• Aunthascarriersymptoms
CameronandAlexander
Camerontoday• Blind,deaf,nospeech,• wheelchairbound,tubefed
• Butstillhasthebestlaugh!
• Hewas21inMarch2017
Glenn• Born2002-inthefourweeksbetweenAlexanderanCamerondiagnosis…
• ThankfullydoesnothaveALD
NEWBORNSCREENINGUPDATE
NATIONALSCREENINGCOMMITTEETheUKNationalScreeningCommittee(UKNSC)
advisesministersandtheNHSinthe4UKcountriesaboutallaspectsofpopulationscreeningandsupportsimplementationof
screeningprogrammes.
CONDITIONSALREADYSCREENEDInEngland,NBSscreeningisofferedandrecommendedfornineconditions:• sicklecelldisease(SCD)• cysticfibrosis(CF)(notvalidforbabiesaged8weeksormore)• congenitalhypothyroidism(CHT)• phenylketonuria(PKU)• mediumchainacyl-CoAdehydrogenasedeficiency(MCADD)• maplesyrupurinedisease(MSUD)• isovalericacidaemia(IVA)• glutaricaciduriatype1(GA1)• homocystinuria(pyridoxineunresponsive)(HCU)
HOWANDWHEN• Allscreeningisoptional• Bloodspotsarecollectedonday5• Babiescanbetesteduptoayearoldiftheymissscreening
• ScreeningforCysticFibrosisisonlyofferedupto8weeks
Cost-effectivenessofincludingX-ALDintheNHSnewbornscreeningprogrammeStudycarriedoutby
ThisPhotobyUnknownAuthorislicensedunderCCBY-SA
ABRIEFINTRODUCTIONTOCOST-EFFECTIVENESSANALYSIS • Cost-effectivenessanalysisisusedtohelpdecide
whetheranewinterventionortreatmentshouldbefunded
• DecisionsintheUKarebasedontheincrementalcost-effectivenessratio(ICER)
• TocalculatetheICERweneedestimatesofthetotalcostsandhealthoutcomesofX-ALDwithandwithoutnewbornscreening
• TheICERiscalculatedbydividingtheincrementalcostsofthescreeningbytheincrementalhealthbenefitsofscreening
• Cost-effectivenessanalysesareoftencarriedoutusingdecision-analyticmodels
• ThesemodelsareabletocalculatetheincrementalcostsandQALYsneededtocalculatetheICER
• Amodelenablesevidencefromavarietyofsourcestobeusedtogether–canincludeevidenceontheintervention,thenaturalhistoryofthedisease,andinformationaboutthecostsoftheinterventionandanypotentialadverseevents
• Amodelalsoallowsuncertaintyanalysestobecarriedout• Amodelisasimplifiedversionofreality–cannotcaptureeverything
MODELPARAMETERS• NaturalHistory• Incidence• Phenotypedistribution• Survivalbyphenotype• Survivalimprovementthroughearliertransplantation• Screeningparameters• Sensitivityandspecificityofthescreeningtest• Otherconditionsidentified• Costs–NHS/PSSperspective• Costsofscreeningtest• Costsoflongtermoutcomes• Qualityoflife
• ThestudyshowedcostbenefittotheNHS• ApplicationsubmittedtoNationalScreeningCommitteeApril2016
• RejectedbyNSCJune2017-butwithagreementtoreviewin2019
THEGOODANDTHEBADNEWS…
• UncertaintyaboutincidenceandphenotypedistributionsworldwideandnoUKbasedstudies
• Uncertaintyaboutthebenefitsanddis-benefitsforthe78-88%ofnewbornsandtheirfamiliesidentifiedthroughNBSwhowillnotneedHSCT.
• Thedetrimentaleffectonfamilieswhohaveafalsepositivetestresult
• Identificationofotherperoxisomaldisorderswithnocurrenttreatmentoptions
NSCCOMMENTS/CONCERNS
• CollaborationwithothergroupsseekingNBS• CanwehelptochangethewayNSCviewsevidence?
• Ensurewemeetparametersforanynewevidenceprovidedwithsubmission
• Demonstrating“moregoodthanharm”• Qualitativeandquantitativedata
NEXTSTEPS…
• bluebirdbio-fortheirsupport• AllthoseinvolvedwithNBSinUSA-forsharinginformation
• Welldoneandcongratulationsforallofyoureffortssofar
GRATEFULTHANKS