Please use this identifier to cite or link to this item: http://bura.brunel.ac.uk/handle/2438/15093
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dc.contributor.authorPotter, BK-
dc.contributor.authorChakraborty, P-
dc.contributor.authorKronick, JB-
dc.contributor.authorWilson, K-
dc.contributor.authorCoyle, D-
dc.contributor.authorFeigenbaum, A-
dc.contributor.authorGeraghty, MT-
dc.contributor.authorKaraceper, MD-
dc.contributor.authorLittle, J-
dc.contributor.authorMhanni, A-
dc.contributor.authorMitchell, JJ-
dc.contributor.authorSiriwardena, K-
dc.contributor.authorWilson, BJ-
dc.contributor.authorSyrowatka, A-
dc.date.accessioned2017-08-30T15:37:44Z-
dc.date.available2013-06-01-
dc.date.available2017-08-30T15:37:44Z-
dc.date.issued2012-
dc.identifier.citationGENETICS IN MEDICINE, 2013, 15 (6), pp. 415 - 422 (8)en_US
dc.identifier.issnhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000319979800001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5-
dc.identifier.issnhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000319979800001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=f12c8c83318cf2733e615e54d9ed7ad5-
dc.identifier.issn1098-3600-
dc.identifier.urihttp://bura.brunel.ac.uk/handle/2438/15093-
dc.description.abstractAcross all areas of health care, decision makers are in pursuit of what Berwick and colleagues have called the “triple aim”: improving patient experiences with care, improving health outcomes, and managing health system impacts. This is challenging in a rare disease context, as exemplified by inborn errors of metabolism. There is a need for evaluative outcomes research to support effective and appropriate care for inborn errors of metabolism. We suggest that such research should consider interventions at both the level of the health system (e.g., early detection through newborn screening, programs to provide access to treatments) and the level of individual patient care (e.g., orphan drugs, medical foods). We have developed a practice- based evidence framework to guide outcomes research for inborn errors of metabolism. Focusing on outcomes across the triple aim, this framework integrates three priority themes: tailoring care in the context of clinical heterogeneity; a shift from “urgent care” to “opportunity for improvement”; and the need to evaluate the comparative effectiveness of emerging and established therapies. Guided by the framework, a new Canadian research network has been established to generate knowledge that will inform the design and delivery of health services for patients with inborn errors of metabolism and other rare diseases.en_US
dc.description.sponsorshipThis work was supported by a CIHR Emerging Team Grant (“Emerging team in rare diseases: acheiving the ‘triple aim’ for inborn errors of metabolism,” B.K. Potter, P. Chakraborty, and colleagues, 2012– 2017, grant no. TR3–119195). Current investigators and collaborators in the Canadian Inherited Metabolic Diseases Research Network are: B.K. Potter, P. Chakraborty, J. Kronick, D. Coyle, K. Wilson, M. Brownell, R. Casey, A. Chan, S. Dyack, L. Dodds, A. Feigenbaum, D. Fell, M. Geraghty, C. Greenberg, S. Grosse, A. Guttmann, A. Khan, J. Little, B. Maranda, J. MacKenzie, A. Mhanni, F. Miller, G. Mitchell, J. Mitchell, M. Nakhla, M. Potter, C. Prasad, K. Siriwardena, K.N. Speechley, S. Stocker, L. Turner, H. Vallance, and B.J. Wilson. Members of our external advisory board are D. Bidulka, T. Caulfield, J.T.R. Clarke, C. Doiron, K. El Emam, J. Evans, A. Kemper, W. McCormack, and A. Stephenson Julian. J. Little is supported by a Canada Research Chair in Human Genome Epidemiology. K. Wilson is supported by a Canada Research Chair in Public Health Policy.en_US
dc.format.extent415 - 422 (8)-
dc.languageEnglish-
dc.language.isoenen_US
dc.publisherNATURE PUBLISHING GROUPen_US
dc.subjectScience & Technologyen_US
dc.subjectLife Sciences & Biomedicineen_US
dc.subjectGenetics & Heredityen_US
dc.subjectGENETICS & HEREDITYen_US
dc.subjectinborn errors of metabolismen_US
dc.subjectpractice-based evidenceen_US
dc.subjectrare diseasesen_US
dc.subjectresearch networken_US
dc.subjectSTEM-CELL TRANSPLANTATIONen_US
dc.subjectUREA CYCLE DISORDERSen_US
dc.subjectPHENYLALANINE-HYDROXYLASE DEFICIENCYen_US
dc.subjectCOA DEHYDROGENASE-DEFICIENCYen_US
dc.subjectACID OXIDATION DISORDERSen_US
dc.subjectEVIDENCE-BASED MEDICINEen_US
dc.subjectSYRUP-URINE-DISEASEen_US
dc.subjectSAPROPTERIN DIHYDROCHLORIDEen_US
dc.subjectCLINICAL-TRIALSen_US
dc.subjectRARE DISEASESen_US
dc.titleAchieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworken_US
dc.typeArticleen_US
dc.identifier.doihttp://dx.doi.org/10.1038/gim.2012.153-
dc.relation.isPartOfGENETICS IN MEDICINE-
pubs.issue6-
pubs.publication-statusPublished-
pubs.volume15-
Appears in Collections:Dept of Health Sciences Research Papers



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