title: Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.
abstract: Across 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.
authors.affiliation: Department of Epidemiology & Community Medicine, University of Ottawa, Ottawa, Ontario, Canada. bpotter@uottawa.ca
authors.forename: Beth K
authors.initials: BK
authors.lastname: Potter
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.forename: Jonathan B
authors.initials: JB
authors.lastname: Kronick
authors.forename: Kumanan
authors.initials: K
authors.lastname: Wilson
authors.forename: Doug
authors.initials: D
authors.lastname: Coyle
authors.forename: Annette
authors.initials: A
authors.lastname: Feigenbaum
authors.forename: Michael T
authors.initials: MT
authors.lastname: Geraghty
authors.forename: Maria D
authors.initials: MD
authors.lastname: Karaceper
authors.forename: Julian
authors.initials: J
authors.lastname: Little
authors.forename: Aizeddin
authors.initials: A
authors.lastname: Mhanni
authors.forename: John J
authors.initials: JJ
authors.lastname: Mitchell
authors.forename: Komudi
authors.initials: K
authors.lastname: Siriwardena
authors.forename: Brenda J
authors.initials: BJ
authors.lastname: Wilson
authors.forename: Ania
authors.initials: A
authors.lastname: Syrowatka
mesh_terms: D019468:Disease Management; D055317:Evidence-Based Practice; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy; D017063:Outcome Assessment, Health Care