Valuing the “Burden” and Impact of Rare Diseases: A Scoping Review

Abstract

Introduction: Rare diseases (RDs) are a severe, chronic, degenerative and often life-threatening group of conditions affecting more than 30 million people in Europe. Their impact is often underreported and ranges from psychological and physical symptoms seriously compromising quality of life. There is then a need to consolidate knowledge on the economic, social, and quality of life impacts of rare diseases.Methods: This scoping review is the result of 9 qualitative interviews with experts and a literature search on Cost-of-Illness (COI) studies and quality of life (QoL) studies following the PRISMA methodology. Grey literature was also included to complement findings. Results. 63 COI studies were retrieved, covering 42 diseases and a vast majority of them using a prevalence-based approach (94%). All studies included medical costs, while 60% included non-medical costs, 68% productivity losses and 43% informal care costs. 56 studies on QoL were retrieved, mostly from Europe, with 30 different measurement tools. Grey literature included surveys from the pharmaceutical industry and patient organisations.Discussion: The majority of studies evaluating the impact of RDs on the individual and society use the COI approach, mostly from a societal perspective. Studies often vary in scope, making them difficult to consolidate or compare results. While medical costs and productivity losses are consistently included, QoL aspects are rarely considered in COI and are usually measured through generic tools.Conclusion: A comprehensive study on impact of rare disease across countries in Europe is lacking. Existing studies are heterogeneous in their scope and methodology and often lack a holistic picture of the impact of rare. Consensus on standards and methodology across countries and diseases is then needed. Studies that consider a holistic approach are often conducted by pharmaceutical companies and patient organisations exploring a specific disease area but are not necessarily visible in the literature and could benefit from the sharing of standards and best practices.

Development of a disease-specific health utility score for chronic obstructive pulmonary disease from a discrete choice experiment patient preference study

“…Moreover, EQ-5D-3L may have limited sensitivity for demonstrating clinical benefits of new investigational drugs for COPD, due to the confounding effect of other comorbidities diminishing their EQ-5D-3L scores. As has also been recommended by others (38;39), we therefore advocate the use of a disease-specific instrument, such as our COPD health utility score derived from the DCE, to be administered alongside the use of EQ-5D-3L in clinical trials; this would be expected to have greater sensitivity for showing the therapeutic benefit of COPD drugs on the symptoms that matter most to COPD patients, without the confounding problem of comorbidities impacting their general health status. The present patient preference study was conducted during the early development of a new therapy for COPD to inform the choice of patient-relevant endpoints to be included in the phase III clinical trial.…”

“…It seems reasonable to expect that also in other diseases where a generic instrument like EQ-5D fails to fully capture the quality-of-life impact of the disease (38–41), or where comorbid disorders confound the measurement of quality of life (37), then an approach to generating disease-specific utility estimates could be important for determining value to the patient of new technology offerings. The same argument applies to determining those utility estimates with patients suffering from the disease, rather than from the general public, if the quality-of-life impact is not well appreciated by the general population (38;42). This could be of particular importance in the case of rare diseases, where patient preference research is a new and evolving science (42).…”

A cost-of-illness study of Behçet syndrome in Italy

“…Despite COI studies might support management and monitoring of costs, while also help evaluation of the impact of both policies and health technologies, at present, literature of COI studies among RDs and in particular among BS patients is scarce [ 14 , 15 ].…”

The Right to Ask, the Need to Answer—When Patients Meet Research: How to Cope with Time

“…Unfortunately, the reality is so far from this ambitious goal that, actually, achieving a diagnosis is a road riddled with dark sides and pitfalls. Alongside the consolidated literature about the economic burden and the impact on the quality of life of patients affected with a chronic illness [6][7][8][9], the ethical, legal, social, and psychological implications (ELSI and ELPAG) of RD are now a growing issue in medicine and genomic research, as evidenced by the widespread initiatives on ELSI and ELPAG research supported by human genetics scientific societies [10][11][12] and other international research programs, such as the ELSI Research Program at the National Human Genome Research Institute [13]. Numerous initiatives are available with strong educational components to provide genomic education to healthcare professionals and empower patients and associations.…”