The International Journal of Environmental Research and Public Health (impact factor [2019] 2.89, Editor Paul B. Tchounwou) recently published a commentary entitled ‘Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal’. HCD Economics are encouraged that the paper seeks to show how cost or burden of illness studies informs effective decision making on the allocation of healthcare resources towards the management of rare diseases. This finding is a core belief for HCD Economics and underwrites our research philosophy in partnership with patient advocates and the University of Chester.

In the paper, recently posted as an article of interest by the independent informatics service ‘Health Evaluations and Applied Therapeutics (HEAT), the authors, (Lead author: P Armeni et al Cergas Centre for Research on Health and Social Care Management, SDA Bocconi School of Management, 20136 Milan, Italy; propose that research intended to elicit objective evidence of cost of illness (burden of illness) contributes to improving healthcare resource planning  by achieving the understanding of rare diseases as societal, not merely as a clinical or product specific issue.

HCD Economics shares this perspective as outlined in recent publications of HCD Economics/University of Chester studies that draw upon data drawn from the disease community, in a number of rare diseases, designed within a PPIE framework (Public and Patient Involvement and Engagement).

The central argument states that Cost of Illness (COI) studies (also known as Burden of Disease or Burden of Illness [BOI]) conducted using a societal perspective can effectively inform appropriate pharmacoeconomic analysis to inform healthcare resource decisions impacting patient access to new medicines for the treatment of rare diseases. COI/BOI is able to show the distribution of the disease burden (i.e., the consequence of health problems on a given population in terms of mortality, morbidity, quality of life, or financial costs, etc.) over the different actors impacted by the condition, i.e., the patient, her/his caregiver(s), the healthcare sector, pharmaceutical industry, other public institutions providing financial or organizational support, employers, etc.

The authors included 15 peer review papers covering four rare diseases in their analysis, the selected papers emerged from a process which identified 49 papers initially, the 15 were those that satisfied the rigid selection criteria defined by the authors and included a haemophilia BOI paper led by HCD Economics CEO Jamie O’Hara (The cost of severe haemophilia in Europe: The CHESS study. Orphanet J. Rare Dis. 2017, 31, 12, doi:10.1186/s13023-017-0660-y)

In discussion the authors of the International Journal of Environmental Research and Public Health paper confirm that rare diseases have been an increasing area of focus. They identify three effects that have converged in recent years. These are continuing innovation stemming from the genomic revolution, regulatory and financial incentives for rare disease treatment and an increasingly mobilized and advocacy driven patient community.

The authors reflect the view of HCD Economics that COI/BOI provides critical information needed by policymakers when seeking to determine an evidence base that can support the access for rare disease communities to new innovative therapy. The fifteen papers selected by the authors were seen as key examples of COI/BOI papers published in the last decade on four selected rare disease. The results showed significant heterogeneity in identifying all cost items associated with the selected rare diseases.

First, the existence of a pharmaceutical treatment is positively correlated with the availability of cost analyses; second, indirect costs and direct non-healthcare costs account for a relevant portion of total costs when there is no specific indicated therapy but only symptom treatment.

To read the full article published in the International Journal of Environmental and Public Health, click on the link below posted by HEAT (HEAT is an independent informatics service devoted to providing intelligence and coverage on pricing and access to emerging Technologies-in-Health; primarily from a Pharmaceutical and Biotechnology perspective.)

For more information on ‘cost of illness’ methodologies and recent studies in a number of rare diseases published by HCD Economics, please contact