PHWR Public Health Weekly Report

‘Rare diseases’ refer to diseases with a prevalence of less than 20,000, or with unknown prevalence due to diagnostic difficulties; designated and announced per Article 2 of the Enforcement Decree of the Rare Disease Management Act. They are difficult to diagnose and often require continuous treatment, causing a heavy financial burden. Central and local governments have, accordingly, been supporting medical costs for national health insurance beneficiaries with a low income to reduce the burden of medical expenses caused by these diseases. The ‘Medical Expense Support Project for Patients with Rare Diseases’ was, therefore, initiated, in consideration of the economic affordability of treatment for patients with rare diseases.

1. Overview of the Support by the ‘Medical Expense Support Project for Patients with Rare Diseases’

The ‘Medical Expense Support Project for Patients with Rare Diseases’ is for patients with rare diseases with medical expenses enrolled in the national health insurance program. In order to receive this support, they must first be registered in the ‘Special Cases for Rare Disease Calculation’ of the National Health Insurance Service. Diseases subject to ‘Special Cases for Rare Disease Calculation’ include rare diseases, newly designated in the previous year. The health insurance revenue of the National Health Insurance Corporation supports 90% of the cost of medical care benefits.

The ‘Medical Expense Support Project for Patients with Rare Diseases’ is targeted at health insurance beneficiaries with a median income of less than 120% (from 2023 onwards, the median income was less than 130% for pediatric and adolescent patients) among those eligible for the ‘Special Cases for Rare Disease Calculation.’ Additional support is provided for 10% of the out-of-pocket expenses incurred after applying the ‘Special Cases for Rare Disease Calculation.’ In addition, patients with serious diseases, such as muscle disorders, are provided with assistance in the ‘purchase of assistive devices, the rental fee for ventilators and cough inducers, nursing expenses, and the purchase of special diets.’

2. Application Procedure for ‘Medical Expense Support Project for Patients with Rare Diseases’

As of 2022, the diseases eligible for the ‘Medical Expense Support Project for Patients with Rare Diseases’ include 1,123 rare diseases designated and announced in 2021 and 24 serious and incurable diseases per the ‘Interim Measures for Notification on the Rare Disease Management Act and Standards for Medical Expense Support for Patients with Rare Diseases.’

If a person is designated as a recipient of the ‘Medical Expense Support Project for Patients with Rare Diseases,’ the medical fees for his or her medical expenses are reduced. If eligible for support from the National Health Insurance Service, the recipient’s information, transmitted by the associated city, county, and district public health centers, is verified by the National Health Insurance Service, and the medical expenses are paid to the relevant medical institutions, using balances deposited by the city, county, and district health centers.

1. 2022 Distribution of Patients with Rare Disease

According to the announcement of the list of rare diseases, the diseases covered by the ‘Medical Expense Support Project for Patients with Rare Diseases’ are expanding yearly [1]. The list of rare diseases was first designated in 2018. Diseases designated as rare become eligible for medical expense support for the following year. The number of diseases covered by medical expense support has increased to 950 in 2019, 1,038 in 2020, 1,110 in 2021, and 1,147 in 2022. The number of people eligible for support projects for rare new diseases was 127 in 2019, 322 in 2020, 477 in 2021, and 648 in 2022 (Table 1).

Table 1 Status of rare diseases subject to ‘National fundholding system for rare disease’

Year	Rare diseases	Intractable diseases	Status of disease
Before 2018	652	24	676
2019	926	24	950
2020	1,014	24	1,038
2021	1,086	24	1,110
2022	1,123	24	1,147
2023	1,165	24	1,189

Unit: no. of diseases..

The proportion of the medical expenses by region of the ‘Medical Expense Support Project for Patients with Rare Diseases’ was 21.9% for Gyeonggi-do, followed by 13.8% for Seoul, and 8.4% for Busan, indicating that the proportion of patients in the metropolitan area was 35.7% (Figure 1).

Figure 1. Regional status of ‘National fundholding system for rare disease’ in the Republic of Korea, 2022.

When it comes to diseases with the highest number of applicants by age, the rate of ‘respiratory distress syndrome in newborns’ was high for those under 10 years of age. ‘Moyamoya disease’ was high for adolescents; ‘Crohn’s disease of both the small and large intestines’ was high for those in their 20s; and ‘chronic kidney disease’ was high for those in their 30s (Table 2).

Table 2 Top 5 diseases with the highest numbers of beneficiaries by age in the Republic of Korea, 2022

Age (yr)	Diseases	Applicant	Amount	Average amount of medical expenses
<10	Respiratory distress syndrome of newborn	638	327	0.5
	Trisomy 21, meiotic nondisjunction	129	52	0.4
	Haemophilia A	74	654	8.8
	Atresia of bile ducts	73	115	1.6
	Lennox-Gastaut syndrome	72	111	1.5
10–19	Moyamoya disease	165	42	0.3
	Crohn’s disease of both small and large intestine	145	96	0.7
	Lennox-Gastaut syndrome	104	121	1.2
	Hereditary factor VIII deficiency	97	1,138	11.7
	Mitochondrial myopathy, NEC	82	273	3.3
20–29	Crohn’s disease of both small and large intestine	264	235	0.9
	Hereditary factor VIII deficiency	186	2,345	12.6
	Muscular dystrophy	156	595	3.8
	Moyamoya disease	103	18	0.2
	Crohn’s disease of large intestine	90	70	0.8
30–39	Chronic kidney disease	247	779	3.2
	Hereditary factor VIII deficiency	206	2,893	14.0
	Crohn’s disease of both small and large intestine	180	176	1.0
	Systemic lupus erythematosus with organ or system involvement	152	169	1.1
	Crohn’s disease of small intestine	107	95	0.9
40–49	Chronic kidney disease	680	2,194	3.2
	Systemic lupus erythematosus with organ or system involvement	191	131	0.7
	Ankylosing spondylitis, multiple sites in spine	159	116	0.7
	Hereditary factor VIII deficiency	159	2,127	13.4
	Moyamoya disease	146	98	0.7
50–59	Chronic kidney disease	1,559	5,150	3.3
	Systemic lupus erythematosus with organ or system involvement	158	93	0.6
	Moyamoya disease	135	167	1.2
	Muscular dystrophy	108	349	3.2
	Behçet’s disease	105	58	0.6
60–69	Chronic kidney disease	2,781	9,638	3.5
	Motor neuron disease	114	419	3.7
	Moyamoya disease	108	158	1.5
	Behçet’s disease	108	59	0.5
	Systemic lupus erythematosus with organ or system involvement	83	58	0.7
70–79	Chronic kidney disease	2,113	7,405	3.5
	Motor neuron disease	62	215	3.5
	Parkinson’s disease	53	81	1.5
	Guillain-Barré syndrome	48	108	2.3
	Behçet’s disease	45	25	0.6
≥80	Chronic kidney disease	831	2,821	3.4
	Parkinson’s disease	29	35	1.2
	Guillain-Barré syndrome	23	72	3.1
	Idiopathic pulmonary fibrosis	15	15	1.0
	Senile macular degeneration (exudative)	11	4	0.4

Unit: person, million won..

2. 2022 Medical Expense Support by Item

When a patient with a rare disease visits a medical institution, the out-of-pocket expenses are supported by the ‘Special Case for Rare Disease Calculation.’ Based on an income property survey, patients with rare diseases and low income are exempted from out-of-pocket expenses, received additional support for 10% of their out-of-pocket costs [2]. In addition, if a person meets certain conditions, additional support is provided for the purchase of assistive devices; the rental fee of ventilators and cough inducers; nursing expenses; special formula; and low-protein, ready-to-eat meals. Detailed support criteria for each item can be found on the ‘Rare Disease Helpline website (https://helpline.kdca.go.kr)’ or obtained from the public health center under the jurisdiction of the place of residence registration (Table 3).

Table 3 Status of medical expenses by subsidy category, 2022

Subsidy	Applicant	Amount
Patient’s charge in medical expenses allowance	21,209 (90.56)	71,241 (92.63)
Patient’s charge in auxiliary device purchase	41 (0.18)	4 (0.01)
Patient’s charge in resoiratory support device	321 (1.37)	233 (0.30)
Patient’s charge in cough support device	197 (0.84)	37 (0.05)
Nursing fee	1,613 (6.89)	5,324 (6.92)
Specially formulated powdered milk	22 (0.09)	55 (0.07)
Low protein rice	18 (0.08)	19 (0.02)

Unit: person, million won..

3. 2022 Status of Medical Expense Support by Disease

The disease with the highest number of applicants was ‘chronic kidney disease (N18)’, followed by ‘Crohn’s disease (K50.0–8); Moyamoya disease (I67.5); hereditary factor VIII deficiency (D66); and ankylosing spondylitis (M45.0–8)’ (Table 4) [1].

Table 4 Top 10 diseases with the highest numbers of beneficiaries in the Republic of Korea, 2022

KCD	Diseases	Applicant	Amount	Average amount of medical expenses
N18	Chronic kidney disease	7,747	28,211	3.6
K50.0–8	Crohn’s disease	1,339	1,288	1.0
I67.5	Moyamoya disease	809	584	0.7
D66	Hereditary factor VIII deficiency	790	10,576	13.4
M45.0–8	Ankylosing spondylitis	733	527	0.7
M32.1	Systemic lupus erythematosus with organ or system involvement	657	502	0.8
P22.0	Respiratory distress syndrome of newborn	638	327	0.5
G71.0	Muscular dystrophy	538	1,858	3.5
M35.2	Behçet’s disease	323	189	0.6
G12.2	Motor neuron disease	317	1,245	3.9
Others		8,270	31,605	3.7

Unit: person, million won. KCD=Korean standard classification of diseases..

The disease with the highest amount of required balance support was ‘chronic kidney disease (N18)’, followed by ‘hereditary factor VIII deficiency (D66); Fabry’s (-Anderson) disease (E75.2); hereditary factor IX deficiency (D67); and hemophilia A (D66)’ (Table 5).

Table 5 Top 10 diseases with the highest amount of medical expenses in the Republic of Korea, 2022

KCD	Diseases	Applicant	Amount	Average amount of medical expenses
N18	Chronic kidney disease	7,747	28,211	3.6
D66	Hereditary factor VIII deficiency	790	10,576	13.4
E75.2	Fabry’s (-Anderson) disease	182	3,557	19.5
D67	Hereditary factor IX deficiency	150	2,848	19.0
D66	Haemophilia A	267	2,669	10.0
E76.1	Mucopolysaccharidosis, type II	46	2,057	44.7
G71.0	Muscular dystrophy	538	1,858	3.5
D67	Haemophilia B	85	1,440	16.9
E75.2	Gaucher’s disease	38	1,412	37.2
G12.2	Motor neuron disease	317	1,245	3.9
Others		12,001	21,040	1.8

Unit: person, million won. KCD=Korean standard classification of diseases..

The disease with the highest average amount of required balance support per person was ‘Heller’s syndrome (E76.0)’; followed by ‘Morquio (-like) (classic) syndrome (E76.2); Mucopolysaccharidosis, type II (E76.1); type I mucopolysaccharides (E76.0); and Hunter syndrome (E76.1)’ (Table 6).

Table 6 Top 10 diseases with the highest average amount of medical expenses in the Republic of Korea, 2022

KCD	Diseases	Applicant	Amount	Average amount of medical expenses
E76.0	Hurler syndrome	1	58	57.8
E76.2	Morquio (-like) (classic) syndrome	12	679	56.6
E76.1	Mucopolysaccharidosis, type II	46	2,057	44.7
E76.0	Mucopolysaccharidosis, type I	19	802	42.2
E76.1	Hunter’s syndrome	17	680	40.0
E76.2	Maroteaux-Lamy (mild) (severe) syndrome	1	38	37.7
E75.2	Gaucher’s disease	38	1,412	37.2
E74.0	Hers’ disease	1	32	31.8
D59.5	Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli]	30	867	28.9
E75.2	Niemann-Pick’s disease	2	50	25.1
Others		21,994	70,238	3.2

Unit: person, million won. KCD=Korean standard classification of diseases..

There were 13 diseases for which the required balance support per person was more than 100 million won. Among them, hemophilia diseases numbered seven and mucopolysaccharidosis diseases amounted to three. It is estimated that costs were affected by the inclusion of individuals with ‘Infantile spinal muscular atrophy, type I [Berdnig-Hoffmann] (G12.0),’ who were reimbursed for their treatment in 2022 (about 2 billion won in reimbursement costs) (Table 7).

Table 7 Top 10 diseases with amount per person exceeds 100 million won in the Republic of Korea, 2022

KCD	Diseases	Amount
D66	Hereditary factor VIII deficiency	228
D66	Classical haemophilia	225
D66	Hereditary factor VIII deficiency	187
E76.2	Morquio (-like) (classic) syndrome	165
E76.2	Morquio (-like) (classic) syndrome	150
D66	Haemophilia A	144
D66	Hereditary factor VIII deficiency	133
D66	Hereditary factor VIII deficiency	131
D66	Haemophilia A	113
G12.0	Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]	113
G12.0	Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]	111
D59.5	Paroxysmal nocturnal haemoglobinuria [Marchiafava-Micheli]	102
E76.0	Mucopolysaccharidosis, type I	100

Unit : million won. KCD=Korean standard classification of diseases..

There are various types of rare diseases, and information about individual diseases is significantly lacking. The Rare Disease Management Division of the Korea Disease Control and Prevention Agency provides general information on rare diseases through the ‘Rare Disease Helpline (https://helpline.kdca.go.kr).’ On the Helpline, assistance with the application of a rare new disease designation review and application for medical expense support is provided.

The online application system for medical expense support was first established in 2020, and online application was first introduced for patient households without dependents. In 2022, the scope of online applications expanded to include those with dependents, those exempt from income and property inspections, and those subject to periodic re-inspections. In 2020, 111 people, 144 in 2021, and 212 in 2022, applied for medical expense support online, and 71 people who were subject to regular re-surveys in 2022 also applied for periodic re-surveys online, benefitting from the convenience of the application procedure.

In 2023, the support for pediatric and adolescent patients with rare diseases expanded [2]. Rare diseases are difficult to diagnose and require continuous treatment. Genetic diseases account for most rare diseases in childhood and adolescence. Accordingly, the income criteria for pediatric and adolescent patients with rare diseases, both medically vulnerable groups, were expanded from less than 120% to less than 130% of the median income to strengthen coverage for children and adolescents with rare diseases [2]. In addition, the guidelines have been revised to clarify the compliance period according to the timing of the periodic re-survey and to prevent periodic re-inspections from being completed within the relevant half-year with a delay in the submission of documents by the person subject to the re-survey [2].

The ‘Medical Expense Support Project for Patients with Rare Diseases’ covers medical expenses for 10% of the out-of-pocket expenses incurred after 90% of the out-of-pocket expenses of the ‘Special Case for Rare Disease Calculation’ has been paid. In 2022, however, rare disease treatment drugs with very high prices were subsidized, causing a financial burden on local governments.

In addition, there are demands that the income and property standards used to select recipients for the ‘Medical Expense Support Project for Patients with Rare Diseases’ be eased and that the submission of income and asset investigation documents be simplified. The Rare Disease Management Division of the Korea Disease Control and Prevention Agency collected opinions relating to the improvement of the medical expense support project during the revised local government guidelines training. Through the 2023 policy research project, we plan to examine ways of ensuring the sustainability and financial soundness of the ‘Medical Expense Support Project for Patients with Rare Diseases’ and to promote improved income property standards and support systems.

Ethics Statement: Not applicable.

Funding Source: None.

Acknowledgments: None.

Conflict of Interest: The authors have no conflicts of interest to declare.

Author Contributions: Conceptualization: HWJ. Data curation: HWJ. Formal analysis: HWJ. Methodology: HWJ. Supervision: JWL. Writing – original draft: HWJ. Writing – review & editing: JWL.