Are We Capturing the Socioeconomic Burden of Rare Genetic Disease? A Scoping Review of Economic Evaluations and Cost-of-Illness Studies.

BACKGROUND AND OBJECTIVES: Rare diseases have a significant impact on patients, families, the health system, and society. Measuring the socioeconomic burden is crucial to valuing interventions for rare diseases. Healthcare system costs are significant, but so are costs to other government sectors, patients, families, and society. To understand the breadth of costs captured in rare disease studies, we examined the cost categories and elements of socioeconomic burden captured in published studies. METHODS: A scoping review was conducted using five electronic databases to identify English language economic evaluations and cost-of-illness studies of interventions for rare diseases (2011-21). We mapped costs using a previously developed evidence-informed framework of socioeconomic burden costs for rare disease. RESULTS: Of 4890 studies identified, 48 economic evaluations and 22 cost-of-illness studies were included. While 18/22 cost-of-illness studies utilized a societal perspective, only 7/48 economic evaluations incorporated societal costs. Most reported cost categories related to medical costs, with medication and hospitalizations being the most common elements for both study designs. Costs borne by patients, families, and society were reported less among economic evaluations than cost-of-illness studies. These included: productivity (10% vs 77%), travel/accommodation (6% vs 68%), government benefits (4% vs 18%), and family impacts (0% vs 50%). CONCLUSIONS: Contrary to cost-of-illness analyses, most of the included economic evaluations did not account for the hidden burden of rare diseases, that is, costs borne by patients, families, and societies. Including these types of costs in future studies would provide a more comprehensive picture of the burden of disease, providing empirical data to inform how we value and make decisions regarding rare disease interventions, health policy, and resource allocation.

Developing a Framework of Cost Elements of Socioeconomic Burden of Rare Disease: A Scoping Review.

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 to 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.

Epidemiology and treatment utilization for Canadian patients with migraine: a literature review.

The objective of this narrative review was to identify real-world evidence regarding the burden of migraine in Canada. We conducted a literature search in MEDLINE, Embase, and the Cochrane Database of Systematic Reviews for studies published between August 2010 and August 2020. Of the 3269 publications identified, 29 studies were included. Prevalence estimates varied widely across Canada, and mental health comorbidities were common. Individuals with migraine have a lower quality of life, detrimental impact on workforce productivity, and higher rates of health care resource utilization (HCRU), with HCRU and costs highest among those with chronic migraine. We found inconsistencies in care, including underutilization of medications such as triptans, and varied utilization of over-the-counter and prescription medications. Increased medication use was identified among those with chronic migraine, and only a small number of patients used migraine preventive medications. The burden of migraine in Canada is substantial. Reduced quality of life and workforce productivity, increased HCRU and costs, and underutilization of triptans and migraine preventive medications highlight an important need for more effective management of individuals with migraine.

Epidemiology, healthcare resource utilization and healthcare costs for spinal muscular atrophy in Alberta, Canada.

AIMS: Spinal muscular atrophy (SMA) is a progressive neuromuscular disease associated with the degeneration of motor neurons in the brainstem and spinal cord. Studies examining the epidemiology and economic impact of SMA are limited in Canada. This study aimed to estimate the epidemiology as well as healthcare resource utilization (HRU) and healthcare costs for children with SMA in Alberta, Canada. MATERIALS AND METHODS: We conducted a retrospective study using anonymized data from administrative healthcare databases provided by Alberta Health. Data from 1 April 2010 to 31 March 2018, were extracted for patients <18 years of age identified with SMA. Five-year incidence and prevalence were calculated for cases identified between 1 April 2012 and 31 March 2017. HRU and healthcare costs were assessed one year after SMA diagnosis, including hospitalizations, physician visits, ambulatory care visits and long-term care admissions. RESULTS: The five-year incidence and prevalence of pediatric onset SMA were 1.03 per 100,000 person-years and 9.97 per 100,000 persons, respectively. General practitioner, specialist, and ambulatory care visits were common among children with SMA in the first-year post-diagnosis. The mean (SD) total annual direct cost per patient in the first-year post-diagnosis was $29,774 ($38,407); hospitalizations accounted for 41.7% of these costs ($12,412 [$21,170]), followed by practitioner visits at 32.3% ($9,615 [$13,054]), and ambulatory care visits at 26.0% ($7,746 [$9,988]). CONCLUSIONS: Children with SMA experience substantial HRU, particularly for hospitalizations and practitioner visits, following diagnosis. Given the high costs of SMA, timely access to effective treatment strategies, such as the novel survival motor neuron (SMN)-restoring treatments recently approved for use, are needed to improve health outcomes and HRU.

The impact of treatment adherence on clinical and economic outcomes in multiple sclerosis: Real world evidence from Alberta, Canada.

BACKGROUND: Approximately 1 in 400 Albertans has multiple sclerosis (MS). The current study objective was to determine the real-world impact of adherence to disease-modifying therapies (DMTs) on healthcare utilization and costs among MS patients utilizing administrative data from the Alberta health system in Canada. METHODS: MS patients were identified using a validated case definition (≥ 1 inpatient record or ≥ 5 practitioner claims within 2 years) and the study index DMT was defined as the first claim for a DMT between 1 April 2011 and 31 March 2014. Treatment adherence was calculated using medication possession ratio (MPR), and patients with MPR ≥ 80% were considered adherent; healthcare utilization and costs were explored using multivariable negative binominal regression and logistic regression models. RESULTS: The majority of the 2864 MS patients identified were females, aged 35-55 years old. Overall, 66% of patients were adherent. Compared to non-adherent patients, adherent patients had fewer ambulatory care visits (all-cause: 8.8 vs 10.9, p = 0.0012; MS-related: 4.3 vs 5.3; p = 0.001), physician visits (all-cause: 15.1 vs 18.2, p = 0.0001; MS-related: 3.6 vs 4.4; p = 0.0001), and hospitalizations (all-cause: 5.2% vs 10.2%, p < 0.0001; MS-related: 1.2% vs 2.5%, p = 0.0088). After adjusting for potential confounding factors adherent patients had approximately 20% less physician visits (MS-related: IRR 0.82 (0.79,0.86), p < 0.0001; all-cause: IRR 0.83 (0.81,0.85), p < 0.0001) and ambulatory care visits (MS-related IRR 0.80 (0.77,0.84), p < 0.0001; all-cause: IRR 0.82 (0.80,0.84), p < 0.0001) and approximately 50% fewer hospitalizations (MS-related: OR 0.50 (0.28-0.89), p < 0.0001; all-cause: OR 0.48 (0.35-0.64), p < 0.0001) than non-adherent patients. CONCLUSIONS: The current study found a significant impact of non-adherence to MS therapy on increased health system utilization. These findings demonstrate the importance of treatment adherence on clinical decision-making for patients with MS.