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

Potter, Beth K.; Chakraborty, Pranesh; Kronick, Jonathan B.; Wilson, Kumanan; Coyle, Doug; Feigenbaum, Annette; Geraghty, Michael T.; Karaceper, Maria D.; Little, Julian; Mhanni, Aizeddin A.; Mitchell, John; Siriwardena, Komudi; Wilson, Brenda J.; Syrowatka, Ania

doi:10.1038/gim.2012.153

Cited by 34 publications

(29 citation statements)

References 69 publications

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“…This study was embedded in a larger, multi-faceted cohort study as part of the Canadian Inherited Metabolic Diseases Research Network (CIMDRN) [9]. CIMDRN is a pan-Canadian multi-disciplinary network that has established a consent-based cohort of >550 children, born between 2006 through 2015, diagnosed with one of 31 IMD (Table 1), and receiving care at one of 13 participating pediatric metabolic clinics.…”

Section: Methodsmentioning

confidence: 99%

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

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Background: We sought to understand the experiences of parents/caregivers of children with inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and their families. We investigated their experiences regarding the management of disease, its impact on child and family life, and interactions with the health care system. Methods: From four Canadian centres, we conducted semi-structured telephone interviews with parents/caregivers of children with an IMD who were born between 2006 and 2015 and who were participating in a larger cohort study. Participants were selected with the aim of achieving a diverse sample with respect to treatment centre, IMD, and age of the child. Interviews emphasized the impacts of the disease and its treatment on the child and family and explicitly queried perceptions of interactions with the health care system. We identified emergent themes from the interview data. Results: We completed interviews with 21 parents/caregivers. The 21 children were aged <1 to 7 years old with IMD that included amino acid disorders, urea cycle disorders, fatty acid oxidation disorders, and organic acid disorders or 'other' IMD. Most parents reported that they and their families had adapted well to their child's diagnosis. Parents used proactive coping strategies to integrate complex disease management protocols into routine family life. An important source of stress was concern about the social challenges faced by their children. Participants reported positive interactions with their most involved health care providers within the metabolic clinic. However, they reported challenges associated with the health care system outside of disease-specific metabolic care, when encountering systems and providers unfamiliar with the child's disease. Conclusions: The successful use of proactive coping strategies among parents of children with IMD in this study suggests the potential value of promoting positive coping and is an important direction for future study. Parents' social concerns for their children were important stressors that warrant consideration by health care providers positioned to support families. Our results with respect to experiences with care highlight the important role of specialized metabolic clinics and point to a need for better coordination of the care that takes place outside the disease-specific management of IMD.

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Section: Methodsmentioning

confidence: 99%

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Siddiq

Wilson

Graham

et al. 2016

Orphanet J Rare Dis

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“…The recently established Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a practice-based research network that aims to inform care and ultimately to improve outcomes for children with IMD in Canada and beyond (Potter et al 2013…”

Section: Sample Selection and Survey Implementationmentioning

confidence: 99%

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

et al. 2014

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“…Following an exploratory qualitative design and in partnership with the Canadian Inherited Metabolic Disease Research Network (CIMDRN), 23 health-care providers involved in caring for children with IMD in 1 of 14 metabolic care centers in Canada were invited to participate in semistructured interviews. The 14 centers are supported by seven NBS programs in Canada.…”

Section: Design Setting and Participantsmentioning

confidence: 99%

Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets

Upshur

Luca

et al. 2020

Genetics in Medicine

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Purpose: Despite the public health successes of newborn bloodspot screening, uncertainty associated with variant forms of primary screening targets has led to discrepancies in medical management. This study explored health-care providers' approaches to managing atypical forms of inherited metabolic diseases (IMDs) in the absence of evidence-based guidelines.Methods: Semistructured telephone interviews were conducted with metabolic specialists. 3-Methylcrotonyl CoA deficiency and variant forms of phenylketonuria, biotinidase deficiency, and fatty acid oxidation disorders were considered. Data were analyzed inductively and deductively using a novel taxonomy of uncertainty.Results: Health-care providers (n = 12) navigate diagnostic, prognostic, and therapeutic challenges of uncertainty while interpreting patient and family attitudes, preferences, and ideas in the care of children with these result types. Participants explained the limits of classifying mild and atypical metabolic phenotypes.Participants also described the challenge of finding balance between cautious care and overmedicalization. Developing consistent care plans and honest communication with families were perceived as effective strategies when navigating uncertainty.Conclusion: Providers' experiences suggest a need for transparent and accessible guidelines that account for challenges associated with uncertainty generated by screening. Timely consideration of this challenge is warranted with increasing emergence of genotype-first approaches to screening.Genetics in Medicine (2020) 22:566-573; https://doi.

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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

Cited by 34 publications

References 69 publications

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Experiences of caregivers of children with inherited metabolic diseases: a qualitative study

Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada

Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets

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