Abstract
BackgroundThe burden of rare diseases on society and patients’ families has increased in Korea. However, because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. We investigated the average annual cumulative incidence of rare diseases and the trends in annual cumulative incidence from 2011 to 2015 in Korea by using nationwide administrative data from the Korean National Health Insurance Service (NHIS) database for patients registered with the co-payment assistance policy for rare and incurable diseases. Annual cumulative incidence per 10,000,000 was calculated as the total number of newly enrolled patients with the Korean Standard Classification of Diseases (KCD)-7 code in the register, divided by the number of residents with health insurance coverage during each year. We employed simple linear regression analysis to evaluate the trends in annual cumulative incidence/10,000,000 population per year for each rare disease.ResultsOverall, national support was provided for patients with 415 KCD codes listed among the targeted rare diseases. The total number of newly enrolled patients with rare diseases was 53,831 in 2011, 52,658 in 2012, 52,955 in 2013, 71,530 in 2014, and 70,559 in 2015. The number of rare diseases with an average annual cumulative incidence of 100/10,000,000 and above was 22 (5.30%), while there were 227 (54.70%) and 148 (35.66%) with an average cumulative incidence between 1/10,000,000 and 100/10,000,000 and less than 1/10,000,000, respectively. The trends in the annual cumulative incidence for 43 rare diseases were statistically significant (p-value < 0.05). The rare diseases for which the incremental trend per year was statistically significant were sarcoidosis (D86, D86.0, D86.1, D86.2, D86.3, D86.8, D86.9), Parkinson’s disease (G20), Guillain-Barré syndrome (G61.0), primary biliary cirrhosis (K74.3) and Sjogren’s syndrome (M35.0).ConclusionsThe number of rare diseases showing an increasing trend in annual cumulative incidence was higher than the number of diseases showing a decreasing trend in annual cumulative incidence. Given that the definition and diagnosis vary based on country and that there is difficulty in identifying valid cases, further detection strategies are needed to establish the incidence of each rare disease considering the importance of establishing a health policy based on the actual incidence of the targeted diseases.
Highlights
The burden of rare diseases on society and patients’ families has increased in Korea
In South Korea, the term rare disease applies to diseases for which there are fewer than 20,000 patients, or for which the prevalence is unknown owing to difficulties in diagnosing the disease or that are designated by the procedures and standards set by the Ministry of Health and Welfare [3]
Study population We used the administrative data regarding application for registration in the co-payment assistance policy with the National Health Insurance Service (NHIS) for the period of 2011–2015 in order to determine the population-based incidence of each rare disease in Korea. These data included the information of the applicants, code of the targeted disease classified per the Korean Standard Classification of Diseases (KCD)-7 based on the International Classification of Diseases (ICD)-10 [23], date of definite diagnosis and start date of the application for co-payment assistance, and tests performed for the diagnosis of the rare disease
Summary
The burden of rare diseases on society and patients’ families has increased in Korea. Because of the infrequency of rare diseases, there is a lack of resources and information to address these cases and inadequate funding for the management of these patients. In South Korea, the patient cost of care for rare diseases has increased. Considering the infrequency of rare diseases, affected patients are likely to be neglected, resulting in a lack of resources and information to address these cases and inadequate funding for the proper care of these patients [7]. After being correctly diagnosed with a rare disease, affected patients may not receive proper care because of the lack of adequate treatment or high price of medication (“orphan drugs”) [4, 12, 13]
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