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1、ReviewarticleGenomicMedicineW.GregoryFeero,M.D.,Ph.D.,andAlanE.Guttmacher,M.D.,EditorsGenomicsandPerinatalCareJoannBodurtha,M.D.,M.P.H.,andJeromeF.Strauss,III,M.D.,Ph.D.FromtheMcKusick–NathansInstituteofmongbothprospectiveparentsandprovidersofmedicalcare,GeneticMedicine,JohnsHopkinsMedic
2、algeneticandsocialconcernspeakduringtheperinatalperiod.AdvancesinInstitutions,Baltimore(J.B.);andtheDe-ApartmentofObstetricsandGynecology,genomicsandassistedreproductivetechnologyhavecreatednewopportuni-VirginiaCommonwealthUniversity,Rich-tiestodetectgeneticdisordersandsusceptibilitiesat
3、multipletimesduringperina-mond(J.F.S.).Addressreprintrequeststotalcareandthusarerelevanttotheseconcerns.Emergingtherapiesforsingle-geneDr.StraussattheDepartmentofObstet-ricsandGynecology,VirginiaCommon-disordersmayreshapethesediscussions.wealthUniversity,1101E.MarshallSt.,Practitionerswo
4、rkingwithpersonswishingtobeparentsareencouragedtoinquireRichmond,VA23298,oratjfstrauss@abouttheirgeneticbackgroundsandfamilyhistories,tocounselthemabouttestsforvcu.edu.disease-carrierstatusthatarebasedonknownpopulation-specificrisks,1andtoreferNEnglJMed2012;366:64-73.them,whenappropriate
5、,tospecialistsinhigh-riskpregnancyandgenetics.Nonethe-Copyright©2012MassachusettsMedicalSociety.less,therearemajordifferencesacrosstheworldintheadoptionandimplementationofgeneticeducationandscreeningpracticesbyproviders,womenandtheirpartners,andhealthpaymentsystems.2,3Suchdifferencesaret
6、obeexpectedbecauseaccesstohealthcare,alongwiththeavailabilityofgeneticcounselingandtesting,varies.Eveninthebest-casescenario,patients,practitioners,andpolicymakersfacecom-plicatedchoiceswhenselectingwhichgenomictechniquestousebroadlyorindividu-allyinassessingriskandindetermininghowlabora
7、toryfindingsshouldinformdeci-sionmakingastheoptionsforgenetictestingexpand.4Forexample,itisnotalwayspossibletopredictaprioritheseverityofaclinicalconditiononthebasisofageno-type.Alaboratoryresultmaybeflawless,buttheidentifiedgeneticvariationmaynotbeknowntocauseadisease(i.
