OP92 The Hidden Burden Of Patients And Families In Rare Diseases: A Scoping Review Of Economic Evaluations
Bibliographic record
Abstract
Introduction There are more than 7,000 rare diseases (RDs), which are individually rare but have a large collective impact on patients and families, the health system, and society. There are few treatments for RD; where treatments do exist, they are often exceptionally expensive. Understanding the socioeconomic burden (SEB) of RD is crucial to properly valuing these treatments and informing health technology assessment. Our team has developed a framework of cost elements for inclusion in studies of the costs of RDs using an evidence-informed consensus-based approach. Methods We conducted a scoping review to identify published economic evaluations studies in RD, searching five electronic databases to identify English language RD studies published 2010-2021. We applied our framework of cost elements to assess studies regarding what cost elements were included. Results Of 4,890 records identified, 48 studies were screened for inclusion. Most were from the US (n=27), UK (n=6), and Canada (n=6), and focused on hemophilia (n=14) or cystic fibrosis (n=11). Healthcare system and payer perspectives were most often reported (n=41), with only seven studies reporting a societal perspective. Cost elements most often included were medications (n=41), hospitalizations (n=35), surgery (n=20) medical tests (n=16), and outpatient (unspecified) visits (n=16). Costs to patients, families, and society were less commonly included: productivity (n=5), travel/accommodation (n=3), government benefits (n=2), family impacts (n=0), or other costs relevant to RD (n=1). While unsurprising, given that most analyses focused on healthcare or payer perspectives, this finding illustrates the extent to which the burden of RD is largely unstudied. Conclusions Our scoping review demonstrated that most studies are conducted from a healthcare system/payer perspective, and largely consider only medical costs. These studies undercount the hidden burden of rare disease borne by patients and families leading to a gap in our global understanding of the full impact of rare diseases on families. To properly account for the these and value emerging treatments for RD, patient- and family-borne costs must be considered in economic evaluations for health technology assessment.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".