ISO TS 044242023.docx

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1、TECHNICA1.SPECIFICATIONISO/TS4424editionFirst2O23-12Genomicsinformatics-Datae1.ementsandtheirmetadatafordescribingthetumormutationburden(TMB)informationofc1.inica1.massivepara1.1.e1.DNAsequencingInformatuiuegenomiqueE1.ementsdedonneesetIeursmetadonneespourdecrire1.esinformationsre1.ativesaIachargetu

2、mora1.emutationne1.1.e(TMB)dusqUenCQgemassifpara1.1.e1.ed,ADNISO2023COPYRIGHTPROTECTEDDOCUMENTISO2023IUirhM*hedbdi1.iUedotherwiseupdhi.or啪UIBndttaeDmkfifiHipB1.andonnet8CH-1214Vernier,GenevaPhone：M1.22749O1.11觥ftte:丽丽BQrgPub1.ishedinSwitzer1.andContentsForeword7.2.2Genera1.77.3.2Genera1.8735Referr1.

3、ngdiagnosis.7.5 Performing97.6 Biospecimen1.nfonnationinformation97.7 TMBGenera1.107.8 ReCOmnIeI1.ded一”“一“一“一MM.“一一”1088.38.3.1information12iiiIntroductionviScope1Normativereferences1TermsanddefinitionsAbbreviatedterms4Tumormutationburden(TMB)Compositionofe1.ementsfordescribingTMBonthec1.inica1.DNAN

4、GSreport6Gener31.6.2 SummarypartFie1.dsandtheirnomenc1.atureofrequireddata67.1 Genera1.67.2 SeqUenC1.ngorder7.2.1 C1.inica1.sequencingordercode7.2.3 Dateandtime77.3 Infdrmationonsubjeccofcare87.3.1 Subjectofcareidentifier7.3.2 SubjdOfCarename.87.3.4 Subjectofcarebirthdate87.3.6 Subjectofcaresex7.4 I

5、nformationon1.ega1.1.yauthorizedpersonorderingc1.inica1.sequencing97.4.1 Genera1.97.5.1 Genera1.1.aboratory7.5.2 Basicinformationonperforming1.aboratory97.5.3 Informationonreportgenerator97.5.4 1.ega1.1.yconfirmedpersononsequencingreport7.6.1 Genera1.97.6.2 Typeofspecimen97.7.1 statusresu1.tinformat

6、ion7.7.2 TMBvaIue107.7.3 TMBstatus10Genera1.treatmentMedication10C1.inica1.tria1.information10Fie1.dsandtheirnomenc1.atureofoptiona1.data11B.1Genero】.118.2Referencegenomeversion12TMBGenera1.8.3.2CriteriaofTMBstatus128.3.3Approachoffi1.teringgerm1.inevariants128.3.58.3.6VMBntrt3g)fiUdMirfdica1.cu1.at

7、ingTMBva1.ueCa1.ibratedTMBva1.ue128.4Sequencinginformation138：粒8.4.38.4.4布蚓CingS用哈cieQua1.itycontro1.metrics13Sequencingp1.atforminformation138.4.5Ana1.ysisp1.atforminfb11na1.in.14AnnexA(informative)Examp1.estructureofTMBreport16*W*M*N*M*M*M*w*M*iK*W*w*M*MaM*Forewordthrough(1.SOmittees.workofPrepari

8、ngbody1.ntemationa1.Standardsisnorma1.1.ytechnica1.e1.ectrotechnica1.standardization.Internationa1.E1.ectrotechnica1.Commission(IEC)ona1.1.mattersofdescribedtypesofISO/IECDirectivesrShouIdbePartiCU1.ar,documentwasapprova1.accordancewiththeISO（八）patent(三).attcntion1.akcs1.hcnopossibiHtyconcerningimp1

9、ementationva1.idityapp1.icabi1.ityinvo1.vec1.aimedcautioncdavai1.ab1.cWWW0iwg/PaUHKdatcstinformation,Whichresponsib1.eidentifyinganypatentconstitutenameendorsement,documentisinformationgivenfortheconvenienceofusersanddoesnotexpressionsre1.ated。即nization(WTO)assessment,asinwe1.1.asinfomationBaiersto

10、TradeadherenceseeThisdocument11jb11nMcs.byTechnica1.CommitteeISO/TC215,Hea1.thinformatics,Subcommitteecomp1.ete1.istingofthesebodiescanbefoundatwww.iscorn/membeFshtm1.2023-A1.1.rightsreservedISO(theInternationa1.OrganizationforStandardization)isawor1.dwidefederationofnationa1.standardsbodiesmemberbo

11、dies).TheEachmemberinterestedinsubjectforwhichcarriedoutcommitteehasbeenestab1.ishedhastherighttoberepresentedonthatcommittee.Internationa1.organizations,governmenta1.andnongovernmenta1.,in1.iaisonwithISO,a1.sotakepartinthework.ISOco1.1.aboratesc1.ose1.ywiththeTheproceduresusedtodeve1.opthisdocument

12、andthoseintendedforitsfurthermaintenancearedifferentinthedocumentPart1.InnoSC1.ThiS【hediffereddrattedincriteriaforeditoria1.ru1.esoftheISO/IECDirectives,Part2(seewww.iso.org/direc1.ives).vofdrawsISOtopositionthatthetheevidence,ofthisordocumentmayofanytheusepatentrightsinrespectthereof.Asofthedateofp

13、ub1.icationofthisdocument,ISOhadnotreceivednoticeof（八）PatCnt(三)whichmayberequiredtoimp1.ementthisdocumentHowever,irnp1.ementersaredatabasethatthisatmaythe.ISOsha1.1.behe1.dmayforobtainedfromtheora1.suchpatentrights.AnytradeusedinthisForanexp1.anationofthevo1.untarynatureOfstandards,themeaningofISOsp

14、ecifictermsandtheWor1.dTradeconformityprincip1.estheTechnica1.about1.SO,s(TBT)1towww.iso.org/iso/foreword.htm1.SC1.fGenomicswaspreparedAnyfeedbackorquestionsonthisdocumentshou1.dbedirectedtotheuser/snationa1.standardsbody.AIntroductionWiththerapidadvancementofnext-generationsequencing(NGS)techno1.og

15、ies,c1.intva1.sequencingkwtt0niizeapbediinfceseqpm6()whW(iq1.ectJiiif1.hedMine.re1.S0y,SAft242i11VEductgub1.isedpane1.sequencings(who1.egenome,who1.eexorne,targetedgenesequencing),theyarewide1.yusedinthec1.inica1.fie1.d.砧由融肺诅蛉唾(三，明加UgStwHidPtegies1.Wfi4st三aiffere由MbVeIoPedWinftiOna1.efficientforpati

16、entswithspecifictumormo1.ecu1.archaracteristics.Itistheimmunecheckpointb1.ockadedrugsuchasthefirstapproveddrug-Ipi1.imumab,ananticrtotoxicT-Iymphocyteantigen忸除4)i11Mne蒲酒W制曲嘛那林M硼邪淞次肾ReCkP懈福我曲曲po腮1三6%fi卿酬Se1.VeSreceptors.B1.ockadeofnegativefeedbacksigna1.ingtoimmunece1.1.sthusresu1.tsinacontinuedimmun

17、eresponseagainsttumors.ItwasreportedthatthestatusofProgrammedDcath-1.igand1(PD-1.1.)去限蝴Mhein制俺编螂时悭。喻蝴船硼璃捆?OnS龌电!附St晒iE肱meast三的Orhowmanytumorce1.1.specifipcptidefragmentsarcpresentingandtheincreaseofantigen-presenting1.eadsmoreimmunereaction(3.3照的龈哪to屈电f1.闸atedR1.曲做鸣脑】CieS1.nM蒯的础SF她洲R双幅ISb网ftgproduct

18、sarebeingapprovedforcompaniondiagnostics4.SomeNGSsequencingproductsprovideTMBstatusandva1.ueontheirNGSsequencingreport.C1.IA-Certified1.absorequiva1.ent-1.eve1.agenciesseff1.WYAU口gfKeHM国R11闱B.theirownmethods.Itisforecastedthatmorec1.inica1.NGSHosvevcrrthereisnointernationa1.standardfordescribingTMBs

19、tatus,va1.ue,andmetadata.The三林也伐洲洲928that赧强龈蒯sa拙WAV荆需鼐腑IBareW繇ref陶的腱髓帕蒯哮Omesequencingdata.TheabsenceofastandardforTMBrepresentationmakesitdifficu1.tforc1.iniciansandresearchersnoton1.ytouseTMBresu1.tsforc1.inica1.decisionsupportbuta1.soforsecondaryana1.ysingB渣B&US超PfiagePX(MM1如uus.morcthanonesequenc

20、ing1.ab.Re1.atedmetadatashou1.dbeessentia1.toInthisdocumentthedatae1.ementsandtheirstandardizedmetadataforTMBine1.ectronichea1.th火置双良沿M(HBa概门bJccisions.dinica1.reportforTMBwi1.1.provideproperinformationonbioinfbrmaticsGenomicsinformaticsDatae1.ementsandtheirmetadatafordescribingthetumormutationburde

21、n(TMB)informationofc1.inica1.massivepara1.1.e1.DNAsequencing1 ScopeThisdocumentidentifiesdatae1.ementsandmetadatatorepresenttheinformationabouttumormutationsequencing.burden(TMB)whenreportingtheva1.ueforthebiomarkerusingc1.inica1.massivepara1.1.e1.DNAThisdocumentcoverstheTMBstatusandre1.atedmetadata

22、suchasmutationtype,sequencingtypes,andtargetareasofsequencingfromhumansamp1.esforc1.inica1.practiceandresearch.Thisdocumentisnotintendedtodefineexperimenta1.protoco1.sormethodsforca1.cu1.atingtheva1.ueoftumormutationburden,-fortheotherbio1.ogica1.species,and2 Nmti册ft1.掰帕侪树8ftnethods.Ws1.凶P1.轴fHWjtfh

23、isnHen1.%f比dhrd也理1.aycediQ6na1.1.dJ(p1.ics.tf1.en1.undatedreferences,the1.atesteditionofthereferenceddocument(inc1.udinganyamendments)app1.ies.ISO8601(a1.1.parts).DateandtimeRepresentationsforinformationinterchangeISO/TS22220:2011,Hea1.thinformaticsIdentificationofsubjectsofhea1.thcare0TSTe今aMd，舱削加用

24、HS7ProvideridentificationForthepurposesofthisdocument,thefo1.1.owingtermsanddefinitionsapp1.y.ISOandIECmaintainCennino1.ogydatabasesforuseinstandardizationatthefo1.1.owingaddresses:ISOOn1.inebrowsingp1.atform:avai1.ab1.eatOoFgbpj-jIECE1.ectropedia:avai1.ab1.eathttps:/www.e1.ee1.ropedia.org/bio1.ogic

25、a1.specimenbiospecimenspecimensamp1.eoftissue,bodyf1.uid,food,orothersubstancethatisco1.1.ectedoracquiredtosupporttheassessment,diagnosis,treatment,mitigationorpreventionofadisease,disorderorabnorma1.physica1.stateroritssymptomsSOURCE:ISO/TS20428:2017,3.34gURCE:ISO/TS20428:2017,3.13genebasicunitOfhe

26、reditarymateria1.thatencodesandcontro1.stheexpressionofaproteinorproteinsubunitOURCE:ISO11238:2018,3.29Jgenepane1.techniqueforsequencingthetargetedgenesinagenomeFguRCE:ISO/TS20428:2017,3.15gcrn1.ineseriesofgermce1.1.seachdescendedordeve1.opedfromear1.ierce1.1.sintheseries,regardedascontinuingthrough

27、successivegenerationsofanorganismPgURCE:iSO/TS20428:2017.3.17nuc1.eotidebasebasepairmonomerofanuc1.eicacidpo1.ymersuchasDNAorRNAWteHn1.ucyxrsNudf)WittcsnM1.UdftmtiuraviHxtMnr(iuriMmoinc;THNA,to6ir:Itcanbeeithersing1.e*endorPaIred-end.Note2toentry:Sing1.e-end:Sing1.ereadrunsthesequencinginstrumentrea

28、dsfromoneendofafragmenttotheotherend.NufihHmti!yi(jtraftemidPairedendrunsreadfromoneendtotheotherend,andthenstartanotherroundof更PgRCE:ISO/TS20428:2017,3.27referencesequencenuc1.eicacidsequencewithbio1.ogica1.re1.evance6kbto5yit三h11reicotifiqMenccsing1.ekdedtWcCnvnhiofiirtturfrtuD11Ut1.0iargDOURCE:IS

29、O/TS20428:2017,3.26sequencevariationDNAsequencevariationvariationdifferencesofDNAsequenceamongindividua1.sinapopu1.ationSOURCE:ISO25720:2009,4.8)DISO2023-A1.1.rightsreserved3.15sing1.enuc1.eotidevariantSNVDNsequencevariationthatoccurswhenasing1.enuc1.eotide.A,T,C,orG,inthegenome(orothertargetsequenc

30、e)differsbetweentemp1.atesOURCE:ISO20395:2019,3.35subjectofcareanypersonwhouses,orisapotentia1.userof,ahea1.thcareservice册RCE:1SOTS22220:2011,3.2targetcapturemethodtocapturegenomicregionsofinterestfromaDNAsamp1.epriortosequencingFPyRCE:ISO/TS20428:2017,3.36targetedsequencingdisease-targetedgenepane1

31、sthetechniqueusedforsequencingon1.yse1.ected/targetedgenomicregionsofinterestfromaDNsamp1.eOURCE:ISO/TS22692:2020,3.30who1.eexomesequencingWEStechniqueforsequencingtheexomesoftheprotein-codinggenesinagenomeF%RCE:ISO/TS20428:2017,3.38who1.egenomesequencingWGStechniquethatdeterminest)ecomp1.eteDNAseq

32、uenceofanorganismsgenomeatasing1.etime4S(Abte1.SCBiftM11fi2017.3.39This1.istOfabbreviatedtermsinc1.udesa1.1.abbreviationsusedinthisdocumentATCAnatomica1.TherapeuticChemica1.CT1.A4EBICytotoxicT-1.ymphocyteAssociatedProtein4EuropeanBioinformaticsInstituteIDMPIMPIDIdentiAcationofMedicina1.ProductInvest

33、igationa1.MP1.DINNMHCInternationa1.NonproprietaryNamesMajorHiS1.oCOmPatib山IyComp1.exMPIDMcdidna1.ProductIdentifierNCCNNationa1.ComprehensiveCancerNetworkN1.HNationa1.InstimtesofHea1.thPD-IProgrammedce1.1.Deathprotein1TMBTumorMutationBurdenWGSWho1.eGenomeSequencingUTNUniversa1.Tria1.Number5Tumormutat

34、ionburden(TMB)themo1.ecu1.armarkerspersona1.izedmedicine.diagnostics.mutationburden(TMB)ConsideredimmuneNcoantigensarewhichtumorrecognizedpeptidespresentingbybyMajor1Iistocompatibi1.ityresu1.tinginimmuneFeactiontumordecreased-T-Ce1.1.s.Asbindingtheseproteinsbetweenhmorce1.1.sandT-ce1.1.srthemo1.ecu1

35、es.forimmuneneo-antigeninhibitors.TMBAIthoughse1.ectingc1.inica1.biomarkerareguidetreatmentTMBtargetedSequencingNGSInwho1.ecommercia1.sequencing(WGS)1SequencingexomeSequencingapprovedmu1.ti-purposes,inc1.udingwou1.dassessment.Therefore,inVariousincreasetria1.s.uti1.ityofCouIdTMBstandardized.W(H2023

36、A1.1.r1.ghtNffti尚CenterforBiotechno1.ogyInformationNGSNextGenerationSequencingPD-1.1.ProgrammedDeath-1.igand1SPRECStandardPREanaIytiCa1.CodeWESWho1.eExomeSequencingWHOWor1.dHea1.thOrganizationUMIUniqueMo1.ecu1.arIdentifierMo1.ecu1.archaracterizationoftumorsuti1.izingnext-generationsequencingmethods(

37、NGS)iscurrent1.yinthefocusedofthefie1.doftumorTumorRecent1.y,c1.inica1.tria1.sisshowedthatoneofcheckpointinhibitorsaremoreeffectivewithpatientswithhighTMBregardingresponserates-andsurviva1.benefits.Thesimp1.emeanofTMBishowmanymutationsoccurredintumorce1.1.s7.(MIIC),someofnove1.canbece1.1.surfaceasfo

38、reigntothebodytheimmunesystem,Comp1.exincreasedT-ce1.1.reactivityandthereby1.eadingtoanantitumorimmuneresponse.Topreventtheexcessiveimmunereaction,immunecheckpointproteins(ex.PD-1.1.,PD-1,CT1.4)wereexpressedonthesurfaceofisce1.1.sorImmunecheckpointinhibitorsenhanceantitumorT-ce1.1.activitybyinhibiti

39、ngimmunecheckpointdecisionsSorthestatusofcheckpointcanbeasuitab1.ewhichmutationsto1.ike1.ytoinduceimmunogenicneoantigensisnotc1.ear,TMBrepresentsaquantifiab1.emeasureofthenumberoftumormutationsthatcaninformtreatmentse1.ection.andismost1.ygenemcasurcc1.by8.-2020,genometargetedDNAwho1.eforTMBwas(WES),asthecompaniondiagnosticstoinhibittheimmunecheckpointsystem(PD-1.1.)forpatientswithso1.idhmorsintheUnitedSt