KARENHARRISONkaren@aldlife.org

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