Out-of-Pocket Healthcare Expenditures of Households Living With Rare Diseases

Abstract

Background: Economic impact of rare diseases for both individuals and family members, in addition to many expenditures such as disease-related medication, use of healthcare, access to treatment, special medical and nutritional requirements; it also causes indirect effects such as loss of productivity, loss of wages, health insurance and inability to find work. In this study, it is aimed to determine the out-of-pocket health expenditures and economic burden of households where individuals with rare diseases live in Turkey.

Methods: The research population consists of registered members of associations that are members of the Rare Diseases Network. The questionnaire was developed based on literature review and expert opinion and the online survey was made available between 01.05.2020- 31.05.2020. After obtaining data on out-of-pocket expenditures in rare diseases, the necessary analysis was carried out through the Microsoft Office Excel application. In addition to the general analysis involving all participants, expenditures on the basis of disease group and disease were calculated. The costs calculated in Turkish Liras (₺/TL) have been converted to Euros (€) according to the average exchange rate for 2020.

Results: 456 participants were included in the analysis. Accordingly, 233 patients were included in the metabolic diseases category, 178 in the neuromuscular system diseases category and 41 in the others category. It was determined that special nutrition were the highest expenditure group and emergency department were the lowest expenditure group. The lowest amount of out-of-pocket expenditure is in the metabolic diseases group. It has been observed that 47.35% of all participants allocate more than 10% of the annual average household income and 4.65% more than 100% of the annual average household income for medical expenses. It is seen that the average out-of-pocket expenses in DMD, SMA, cystinosis and cystic fibrosis diseases are close to each other.

Conclusion: Since individuals with rare diseases are often unable to work, out-of-pocket expenditures related to the disease lead to financial difficulties and even impoverishment. Their already difficult lives get even more difficult by the financial sacrifices made for treatment. Treatments for rare diseases need to go beyond special exclusivity for patient access and reimbursement.

Introduction

Rare diseases are life-threatening, serious, genetic, chronic, complex, demanding and low prevalence diseases [1–3]. Rare diseases other than genetic ones are generally cancer, autoimmune diseases, degenerative and proliferative diseases or diseases caused by infection and infestation [4]. Although definitions of rare diseases vary; diseases affecting less than 200.000 people in America, 50,000 in Japan, and 2,000 in Australia are considered as rare diseases [1, 3, 5]. Yet according to the report published by the World Health Organization (WHO) in 2013, if the number of people affected is less than 5 out of 10,000, the disease is considered a rare disease [2].

It is estimated that there are more than 7,000 different types of rare diseases. This number makes up 6–10% of all diseases in the world [6]. However, epidemiological data in the world are constantly changing and a new rare disease is being discovered every week. A disease that was considered rare in the past can become an epidemic/widespread disease today. Similarly, the diseases that are considered rare in one region may not be so in another region [1].

Rare diseases that negatively affect the patient's quality of life and dramatically reduce life expectancy manifest themselves by serious mental and physical disorders [7]. Since they are not well known, occur in unusual ways and often in comorbidities; rare diseases are also difficult to diagnose. On the other hand, diagnostic methods and possibilities are not available for many rare diseases. In addition, the number of doctors who can diagnose and treat rare diseases are quite limited [8]. Only 1% of known rare diseases have been approved for orphan drug treatment [9]. For these reasons, rare diseases with difficulties in diagnosis, treatment and follow-up require to be handled differently from other diseases [7].

Turkey's definition of rare diseases is 50 times less common than the European Union and the United States, and diseases with a prevalence of roughly 0.1–9% for every 100,000 people are considered rare. In this context, it can be said that fewer diseases are considered rare in Turkey than in the European Union [10–11].

Turkey is a country where rare diseases are frequently seen because of inbreeding and different ethnic structures. Due to inbreeding, the prevalence of rare diseases in Turkey is higher. While the rate of inbreeding in European Union countries is 3–10‰, the proportion of inbreeding in Turkey is 12–17%. Therefore, it is likely that approximately 5–7 million people in Turkey suffer from rare diseases [12].

Economic impact of rare diseases for both individuals and family members, in addition to many expenditures such as disease-related medication, use of healthcare, access to treatment, special medical and nutritional requirements; it also causes indirect effects such as loss of productivity, loss of wages, health insurance and inability to find/leave work [13]. The loss of income caused by the inability of individuals with rare diseases to participate in the working life and the fact that one of the households quits their job to care for the individual with the rare disease brings with it the individual and social economic burden [14].

As in many countries of the world, there are problems in Turkey due to lack of knowledge about rare diseases, lack of specialist physicians in these fields, high costs of treatment of the diseases and lack of legal regulation regarding rare diseases and orphan drugs [12]. In particular, the low number of individuals with rare diseases causes not to be given priority in the health system and the public, and this results in problems in accessing health services [14]. Rare diseases differ from other diseases with their characteristics such as disease-specific drugs, treatments, medical tests, special nutrition programs, medical devices and consumable requirements [2]. However, every patient has equal rights when it comes to the right to health. Due to the rarity of diseases and limited demand for the treatment of these diseases, government support is very limited [3].

Recently, there has been a growing awareness all over the world, including Turkey, about the quality of life of individuals with rare diseases, the availability of orphan drugs and the cost of medicines. However, most countries have not studied the use of healthcare, drug use and the economic burden on the specific needs of individuals with rare diseases [15]. Health expenditures of people with rare diseases that are not covered by the government and have to be paid out-of-pocket place a great burden to the individuals and families [16]. Out-of-pocket health expenditures include payments made by individuals for the healthcare they receive and are not reimbursed by any person or institution [17].

In this study, it is aimed to determine the out-of-pocket health expenditures and economic burden of households where individuals with rare diseases live in Turkey.

Method

In order to carry out the research, the necessary permission documents have been obtained from the Social and Human Sciences Research Ethics Committee of Ondokuz Mayıs University.

Discussion

Compared to other diseases, rare diseases show very different characteristics on diagnosis and treatment stages, and disease processes. However, due to the low prevalence in the general population, rare diseases are often an area that is not emphasized, and the policies are inadequate. For this reason, it is of great importance to determine the economic burden that individuals with rare diseases and their families are subjected to, and to organize development policies. In this study carried out with this specific purpose, out-of-pocket expenditure of individuals with rare diseases and their families were analyzed.

According to the analyses, the average age of the participants was found to be quite low. Considering that the rare diseases mostly affect children; it is an expected result that the average age of the participants is 12. The fact that 95% of the participants are single, 40% are illiterate, the rate of primary school graduates is very low, and the working population is only 7% can be explained by the low average age. In addition, the vast majority of individuals with rare diseases have difficulty participating in education and work life due to their diseases. This situation is caused by the physical limitations they experience, those limitations making it difficult to continue their education and business life, the difficulties in participating in social life due to the lack of awareness and consciousness in the society, the difficulties they experience in finding a job and the treatment processes making it difficult to participate in education and business life.

92% of participants are covered by general health insurance, almost 3% are covered by private health insurance, and 5% have both types of insurance. Although all participants are covered by insurance, enormous out-of-pocket expenses indicate that there are unmet needs in rare diseases.

When the total out-of-pocket expenditures related to rare diseases are examined, from highest to lowest; special nutrition expenditures (25.86%), transportation/accommodation/food (16.91%), medical and non-medical devices and supplies (14.87%), medicine (12.11%), patient care (7.65%), laboratory and imaging tests (6.94%), hospitalization (5.62%), specialist visits (5.09%), traditional and complementary medicine (4.49%) and emergency department services (0.45%). The fact that special nutrition expenditures account for a quarter of all expenditures shows how big food expenditures are in these diseases and that there is no improvement in this field since there is no awareness in our country about this issue. According to a 2019 study with rare disease sufferers, it was determined that 28% of the difficulties encountered in the treatment process in rare diseases were caused by management/system and policy, 23% from access and 19% from finance. These challenges are; the lack of coverage of treatment services and medicines, the low coverage of medical devices, the expensiveness of low protein products, the lack of reimbursement due to the high costs of genetic therapies to correct the mutation seen in rare diseases, and the failure to cover certain disease-specific foods [18]. The study found that many of the difficulties experienced in rare diseases are due to economic problems related to treatment and medicines, food and medical supplies needed.

According to the results of the analysis, it was observed that the participants had an average income of 30.70% lower than the average household income announced by TURKSTAT. This rate shows similar results for all disease groups. It is thought that this is due to the fact that when there is a rare disease sufferer in the household, one of the households usually quits for care or can only work in part-time jobs for short periods. Although the average household income is low, according to the data released by TURKSTAT, per capita expenditure on health in 2019 is ₺2,434 (€307), while according to this study, almost 6 times more health expenditures are made out-of-pocket in individuals with rare diseases.

When evaluated according to the disease groups, it was observed that the average annual out-of-pocket expenditure in diseases in the neuromuscular system and the other diseases groups were very close to each other and higher than the general average. The average annual out-of-pocket expenditure rate of the metabolic diseases group is lower than the other diseases groups and the general average. Similarly, when evaluated according to the average annual income; while out-of-pocket expenditures made for diseases in the neuromuscular system and other diseases groups cover 35% of the average income, this rate is around 26% in the metabolic diseases group. When examined on the basis of expenditure for each group; it was observed that the area that was paid the most is special nutrition expenditures (39%) in the metabolic diseases group, medical and non-medical devices and materials expenditures (22%) in the neuromuscular system diseases group, and laboratory and medical imaging tests expenditures (18%) in the others group.

Of the studies on the subject, the study by Lopez-Bastida and his colleagues (2016) analyzed the quality of life and annual expenditures of individuals with rare diseases and their caregivers for specific countries [19]. In the study, the difference of the areas spent according to the type of disease and the costs varying in different countries are noted. This is due to the difference in the use of medicines and healthcare that are approved and covered by reimbursement in each country. Similarly, the study conducted by Gong and his colleagues (2016) examined the availability and affordability of orphan drugs in China. The average cost of 23 orphan drugs analyzed in the study was found to be $4,843.5, which equates to the 505.6-day net income of a middle-income individual. The study results show that the availability of orphan drugs in China is not only very low (20.8%), but also the drug costs are unaffordable for most patients [20].

The economic cost of the disease includes similar results in neuromuscular system diseases and other diseases groups, while it is lower in the metabolic diseases group. It is thought that this is due to the fact that participants with neuromuscular system diseases and other diseases groups with rare diseases are more difficult to care for, therefore the total loss of income is also higher because one of the households quits their job. When evaluated for all participants; It was observed that the economic cost of the disease was above 10% of their average annual income of 70.13% of the participants and above their average income of 26.11%.

Considering the out-of-pocket expenditures of all participants based on their average annual income, it is seen that the participants allocated 30% of their average annual income to expenditures associated with their rare diseases. It was observed that 7.74% of the participants allocated more than all of their average annual income and 59.51% did more than 10% of their average annual income to out-of-pocket expenses associated with rare disease. It is understood that households experiencing this situation maintain their lives through financial support provided from non-governmental organizations, municipalities, patient associations or by friends, relatives, neighbors and through bank loans and/or borrowing. Excessive out-of-pocket expenses can result in catastrophic expenditures. The catastrophic effect occurs when health expenditures exceed a certain threshold and often has an impoverishing effect on households. Although there are two different threshold definitions in the literature, expenditures above 10% of household total income and 40% of non-food expenditures (payment capacity) are considered catastrophic [21]. When evaluated in accordance with this explanation, it can be said that almost 60% of participants with rare diseases are exposed to catastrophic health expenditure.

Among all diseases, rare diseases of more than 10 people were specially analyzed, and it was seen that the highest average out-of-pocket expenditure among these diseases was in extrophy vesica disease. In addition, the average out-of-pocket expenditure in DMD, cystic fibrosis, cystinosis and SMA disease are similar. The disease with the lowest out-of-pocket expenditure was determined as albinism. The area of expenditure according to the type of disease also varies. Although out-of-pocket expenditure amounts are similar, when evaluated on expenditure group basis; Medical and non-medical devices and supplies in albinism (32%) and SMA (41%), special nutrition in DMD (20%) and phenylketonuria (71%), and transportation/accommodation/food expenses in patients with extrophy vesica (47%), cystic fibrosis (24%) and cystinosis (32%) were found to be the highest expenditure groups. In the research conducted by TURKSTAT, out-of-pocket expenditure per capita for 2019 was found to be ₺407 [22]. Statistics on out-of-pocket health expenditures, including TURKSTAT data, omit the costs in accessing the healthcare. According to the general average, approximately 31 times the expenditure is made in households where individuals with rare diseases live. This, in addition to being economically destructive, also brings about health inequalities.

Conclusion

This study is of great importance in order to ensure a clear picture of the economic difficulties experienced by individuals with rare diseases. Since individuals with rare diseases are often unable to work, out-of-pocket expenditures related to the disease lead to financial difficulties and even impoverishment. Their already difficult lives get even more difficult by the financial sacrifices made for treatment. Treatments for rare diseases need to go beyond special exclusivity for patient access and reimbursement.

For this purpose, it is necessary to ensure that patients have complete and unrestricted access to treatments, that access to treatment not only in big cities but also in every patient's own city, that insurance coverages related to treatment and medicine are expanded and regulated according to current market figures, that special needs related to the disease are not dependent on the patient's ability to pay, and that the national plan for the rare diseases missing in our country should be prepared as soon as possible. The cooperation and support of all responsible stakeholders such as patients, patient relatives, associations, physicians, political actors and sector representatives will make significant contributions to the solution of the problems experienced by patients.

Abbreviations

Declarations

Ethics approval and consent to participate: The necessary Ethics approval have been obtained from the Social and Human Sciences Research Ethics Committee of Ondokuz Mayıs University. Consent have been obtained from the participants.

Consent for publication: Informed consent to participate in the study was obtained from participants or their parent or legal guardian in the case of child or baby.

Availability of data and materials: The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Competing interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Funding: No financial support was received for the study.

Authors' contributions: Data collection, literature review and writing: Selin Ökçün, Mustafa Kurnaz, Ekin Begüm Karahan. Data analysis: Guvenc Kockaya, Zafer Çalıskan. Idea, interpretation, revision: Gulpembe Oguzhan, Deniz Atalay. All authors read and approved the final manuscript.

Acknowledgements: We thank the Rare Disease Network and its members for their contribution.

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