HTA is not scaled for burden of rare diseases
Rare diseases are a group of diverse diseases that affects a small number of people compared with other prevalent diseases in the general population. However, the group of patients with specific rare disease is typically small, RDs are estimated to collectively affect up to 450 million patients globally, more than double the number of patients suffering from AIDS and cancer together. Their cumulative impact on public health is huge as in majority of cases rare diseases are serious, chronic, and demanding long-term and costly care.
Only 5% of all known rare diseases have an approved treatment. For a long time, the needs of patients with a rare disease were overlooked by pharmaceutical companies due to limited technologies, but also for poor profit potential given by such a small group of patients. The last mentioned was addressed by regulatory authorities such as EMA or FDA by establishing legislation, regulations, and policies to encourage the research and development of orphan drugs, including fee waivers for regulatory procedures, protocol assistance or market exclusivity after authorization. While these incentives led to an increase in orphan drug development and approvals, the patient access to orphan drugs still remains an issue in some regions. It is almost impossible to conduct standard randomized clinical trials in an area of rare diseases; moreover a common health-economic evaluation is unable to adequately reflect the needs of affected patients and families. Many countries, including CEE region, have still a traditional HTA criterion in place. The standard HTA is mainly focused on the drug’s efficacy/safety, cost-effectiveness, and budget impact. This makes orphan drugs with their high prices and uncertain cost-effectiveness likely to show low value for money and leaves them struggling to be reimbursed. Recent changes in the associated law in some countries of the CEEO region open the door for a multistakeholder policy on rare diseases and the patients' voice is heard more now. Perspectives so far not considered, such as the impact of the disease on the divorce rate, have now a better chance to enhance the overall perception of the burden by the regulatory bodies often enhanced by patient advocacy groups.
In addition to unmet medical needs, the severity of many rare diseases dramatically affects the patients´ social, professional, and family lives, while also requires the assistance of caregivers, often parents, as a majority of rare diseases have a pediatric onset. It is therefore necessary that the payers and authorities consider a huge socio-economic burden that rare diseases pose on patients, their families, national health care budgets and society, in the process of evaluations and decisions about the pricing and reimbursement of therapies for rare diseases.
The recent study in the U.S., summarizing up to 400 rare diseases, has shown that indirect and non-medical costs, so often hidden for policy makers and healthcare providers, drive economic burden of rare diseases and exceed the direct costs (The National Economic Burden of Rare Disease Study, the EveryLife Foundation for Rare Diseases, 2019). The published data has clearly underlined the need for more such studies. The added value of determining the socio-economic burden of rare diseases is in how these data can boost the voice of increasing patient advocacy initiatives, since nobody - elected representatives, regulatory officials, media or just patients’ neighbors - can ignore real world evidence data.
The burden of disease studies, a systematic quantification of all kind of impacts a disease has on a patient, his/her family, and the society including the payer and health care providers deliver scientific evidence for a complex multispectral consideration of a disease. It presents various aspects of the disease in their more naturalistic form rather than translated to economic terms. A burden of disease research pays close attention to patients’ experience which crosses the bars of traditional indirect cost assessment and scales for pain and physical discomfort.
