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
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.This 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
