ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013
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.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed.
- The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study.Orphanet journal of rare diseases · 2026Article
- Psychosocial Challenges Facing Young People With Inherited Metabolic Disorders and Their Parents: A Systematic Review.JIMD reports · 2025Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- 2022 Overview of Metabolic Epilepsies.Genes · 2022Review
- Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.BMJ open · 2022Article
- Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Evaluating psychosocial stressors in families of children with inborn errors of metabolism.Molecular genetics and metabolism reports · 2021Article
- Developments in evidence creation for treatments of inborn errors of metabolism.Journal of inherited metabolic disease · 2021Review
- Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolism.Molecular genetics and metabolism reports · 2020Article
- Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.Orphanet journal of rare diseases · 2020Article
- Psychosocial impact on mothers receiving expanded newborn screening results.European journal of human genetics : EJHG · 2018Article
- Article
- Experiences of caregivers of children with inherited metabolic diseases: a qualitative study.Orphanet journal of rare diseases · 2016Article
- Clinical utility of genetic and genomic services: context matters.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?Genetics in medicine : official journal of the American College of Medical Genetics · 2016Review
- Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.Journal of inherited metabolic disease · 2016Article
- Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.BMC pediatrics · 2015Article
- Newborn bloodspot screening policy framework for Australia.The Australasian medical journal · 2015Review
- The Human Genome Project, and recent advances in personalized genomics.Risk management and healthcare policy · 2015Review
- Metabolic Clinic Atlas: Organization of Care for Children with Inherited Metabolic Disease in Canada.JIMD reports · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors.
Funding
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.