Proposed roadmap to stepwise integration of genetics in family medicine and clinical research 英文参考文献.docVIP

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Proposed roadmap to stepwise integration of genetics in family medicine and clinical research 英文参考文献.doc

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Proposed roadmap to stepwise integration of genetics in family medicine and clinical research 英文参考文献

Houwinketal.ClinicalandTranslationalMedicine2013,2:5 /content/2/1/5 PERSPECTIVE OpenAccess Proposedroadmaptostepwiseintegrationof geneticsinfamilymedicineandclinicalresearch ElisaJFHouwink1,2,5*?,AnnetWSollie3?,MattijsENumans3,4andMartinaCCornel1 Abstract WeproposeAstep-by-steproadmaptointegrategeneticsintheElectronicPatientRecordinFamilyMedicineand clinicalresearch.Thiscouldmakeurgentoperationalizationofreadilyavailablegeneticknowledgefeasibleinclinical researchandconsequentlyimprovedmedicalcare. Improvinggenomicliteracybytrainingandeducationisneededfirst.Thesecondstepistheimprovementofthe possibilitiestoregisterthefamilyhistoryinsuchawaythatqueriescanidentifypatientsatrisk.Addingcodesto theICPCchapters“A21Personal/familyhistoryofmalignancy”and“A99Diseasecarriernotdescribedfurther”is proposed.Multidisciplinaryguidelinesforreferralmustbeunambiguous.Electronicalpatientrecordsneed possibilitiestoadd(new)familyhistoryinformation,includinglinksbetweenindividualswhoarefamilymembers. Automaticalertsshouldhelpgeneralpractitionerstorecognizepatientsatriskwhosatisfyreferralcriteria.We presentafamilialbreastcancercasewithaBRCA1mutationasanexample. Keywords:Geneticsregistration,Familyhistory,Electronicpatientrecord,Generalpractice/familymedicine, Clinicalresearch Background mationinElectronicPatientRecords.Privacyandriskof Publichealthbenefitsofadvancementsinunderstanding discrimination cause concerns when registration is the human genome are still to be realized for common considered. Consequently, inadequacy to deliver genetic chronic diseasessuchascardiovascular disease,diabetes services is reported in literature [1]. We present a mellitus, and cancer [1]. International attempts to inte- roadmap (Figure 1) to integrate actual genetic know- grate and operationalize such knowledge into clinical ledgeintotheElectronicPatientRecordandintoclinical practice are in the early stages, and as a result, many researchinFamilymedicine,whichwouldenableurgent questions surro