Browsing by Author "Hayeems, Robin Z"

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    Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review
    (PharmacoEconomics, 2023-04-07) Currie, Gillian R; Gerber, Brittany; Lorenzetti, Diane; MacDonald, Karen; Benseler, Susanne M; Bernier, Francois P; Boycott, Kym M; Carias, K. Vanessa; Hamelin, Bettina; Hayeems, Robin Z; LeBlanc, Claire; Twilt, Marinka; van Rooijen, Gijs; Wong-Rieger, Durhane; Yeung, Rae S. M.; Marshall, Deborah A.
    Background and Objective: Rare diseases place a significant burden on patients, families, the healthcare system and society. Evidence on the socioeconomic burden of rare disease is limited and mostly reflects diseases where treatments are available. We developed a framework encompassing recommended cost elements for studies of the socioeconomic burden of rare diseases. Methods: A scoping review, conducted in five databases (Cochrane Library, EconLit, Embase, MEDLINE, and APA PsycINFO), identified English language publications from 2000 and 2021 presenting frameworks developed for determining, measuring or valuing costs for rare or chronic diseases. Cost elements were extracted and used to develop a literature-informed framework. Structured feedback was gathered from experts in rare diseases, health economics/health services and policy research to revise the framework. Results: Of 2990 records identified, eight papers were included and informed our preliminary framework; three focused on rare disease and five on chronic disease. Following expert input, we developed a framework consisting of nine cost categories (inpatient, outpatient, community, healthcare products/goods, productivity/education, travel/accommodation, government benefits, family impacts, and other), with several cost elements within each category. Our framework includes unique costs, added from the expert feedback, including genetic testing to inform treatment, use of private laboratories or out-of-country testing, family involvement in foundations and organizations, and advocacy costs for special access programs. Conclusions: Our work is the first to identify a comprehensive list of cost elements for rare disease for use by researchers and policy makers to fully capture socioeconomic burden. Use of the framework will increase the quality and comparability of future studies. Future work should focus on measuring and valuing these costs through onset, diagnosis, and post-diagnosis.
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    Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
    (2019-03-22) Karaceper, Maria D; Khangura, Sara D; Wilson, Kumanan; Coyle, Doug; Brownell, Marni; Davies, Christine; Dodds, Linda; Feigenbaum, Annette; Fell, Deshayne B; Grosse, Scott D; Guttmann, Astrid; Hawken, Steven; Hayeems, Robin Z; Kronick, Jonathan B; Laberge, Anne-Marie; Little, Julian; Mhanni, Aizeddin; Mitchell, John J; Nakhla, Meranda; Potter, Murray; Prasad, Chitra; Rockman-Greenberg, Cheryl; Sparkes, Rebecca; Stockler, Sylvia; Ueda, Keiko; Vallance, Hilary; Wilson, Brenda J; Chakraborty, Pranesh; Potter, Beth K
    Abstract Background We describe early health services utilization for children diagnosed with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency through newborn screening in Ontario, Canada, relative to a screen negative comparison cohort. Methods Eligible children were identified via newborn screening between April 1, 2006 and March 31, 2010. Age-stratified rates of physician encounters, emergency department (ED) visits and inpatient hospitalizations to March 31, 2012 were compared using incidence rate ratios (IRR) and incidence rate differences (IRD). We used negative binomial regression to adjust IRRs for sex, gestational age, birth weight, socioeconomic status and rural/urban residence. Results Throughout the first few years of life, children with MCAD deficiency (n = 40) experienced statistically significantly higher rates of physician encounters, ED visits, and hospital stays compared with the screen negative cohort. The highest rates of ED visits and hospitalizations in the MCAD deficiency cohort occurred from 6 months to 2 years of age (ED use: 2.1–2.5 visits per child per year; hospitalization: 0.5–0.6 visits per child per year), after which rates gradually declined. Conclusions This study confirms that young children with MCAD deficiency use health services more frequently than the general population throughout the first few years of life. Rates of service use in this population gradually diminish after 24 months of age.