Abstract
Introduction
Oncogene testing is widely used to detect or direct cancer treatments. Compared to people without disabilities, people with disabilities in Korea have a lower cancer incidence rate but a fivefold higher cancer mortality rate, implying delayed detection.
Methods
We used an administrative database combining disability status and care utilization to analyze every case of cancer‐related genetic testing paid for by the National Health Insurance Services of Korea between 2016 and 2019. We first compared percentages of individuals who had taken a registered genetic test by their disability statuses. We then compared the most frequently utilized tests between individuals with and without disabilities.
Results
Korean citizens, 175,000 in total, underwent at least one of the 192 registered cancer‐related genetic tests between 2016 and 2019. People with disabilities utilized these genetic tests at higher rates than those without disabilities, regardless of sex or age. Among people aged ≥40 years, lung and colorectal cancer‐related tests were most frequently utilized, regardless of disability status.
Conclusion
Although the cancer‐related genetic test uptake rate is higher among people with disabilities than among those without disabilities, it is still possible that information on these tests is not as readily available to people with disabilities. Therefore, it is imperative for the government to actively devise strategies to enhance national cancer screening rates among people with disabilities.
Keywords: cancer, disability, genetic testing, health policy, South Korea
1. INTRODUCTION
Just 30 years ago, cancer resembled a death sentence. 1 The fatality rate of cancer has considerably decreased in the search for a cure. However, several types of cancer remain fatal and are yet to be overcome by modern medicine. The risk of certain types of cancer is higher in modern times because of factors such as smoking, air and water pollution, and lifestyle changes. 2
The Korean National Health Insurance statistics confirm this trend. According to Statistics Korea, cancer was the leading cause of death in 2021 among Koreans (161.1/100,000 persons), followed by heart disease (61.5/100,000 persons). These numbers differed by more than 2.5 times. 3 According to the Korea Central Cancer Registry, the number of new patients with cancer in 2020 was 247,952, and the age‐standardized cancer incidence has been steadily increasing since 2015. 4 Regarding the incidence rate of each carcinoma, lung cancer ranked first for men and fourth for women, while colorectal cancer ranked fourth for men and third for women, both within the top four for both men and women, although the rankings differ by sex. 5
People with disabilities have higher risks of cancer, not only in Korea but also worldwide. 6 , 7 , 8 In fact, cancer is the main cause of death in people with disabilities in Korea, who comprise a medically vulnerable group. The cancer mortality and prevalence rates among people with disabilities are 1.05 and 5.02 times higher, respectively, than those among people without disabilities, despite the incidence rate of people with disabilities being marginally lower, at 0.90 times that of people without disabilities. 9 , 10 Similarly, people with severe disabilities (Grades 1–3) show higher mortality rates than those with mild disabilities (Grades 4–6), despite the incidence rate being marginally lower.
The National Health Insurance Service (NHIS) of Korea covered genetic testing, one of the advanced medical technologies related to cancer on a national scale in order to reduce the burden of cancer. This genetic testing includes various purposes such as cancer screening, diagnosis, and treatment. Since the genetic testing covered in health insurance is supported either fully or partially by the insurance for people with disabilities, it provides excellent medical support for them to lower the burden related to cancer. However, separate from medical expense support, the discussion on whether disabled individuals are actually utilizing cancer‐related genetic testing through medical cost support services is distinct.
There are various types of genetic testing, including germline genetic testing, which can identify genetic mutations present in an individual is germ cells, and somatic genetic testing, which can identify genetic mutations present in non‐germ cells. In this study, we referred to these types collectively as genetic testing. Genetic testing is utilized for various purposes such as early detection of cancer, identifying risk factors, and guiding treatment. 11 , 12 , 13
Genetic testing detects specific harmful mutations in genes that increase the risk of developing cancer or informs genetic susceptibility to specific types of cancer that are hereditary. In addition to predicting the risk of cancer, tumor DNA sequencing can contribute to increasing the cancer survival rate by allowing customized treatment of the cancer cells according to gene changes of the said cancer cells. For example, of the three types of RAT Sarcoma virus (RAS), the oncogene Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) is known to have a 40% mutation rate, whereas the Neuroblastoma Rat Sarcoma Viral Oncogene Homolog (NRAS) has a mutation rate of approximately 5%–8%. 14 Medical teams can predict responsiveness to existing targeted therapies by verifying the presence or absence of these mutations. New therapies targeting these mutations are currently under development.
Research on whether individuals with disabilities are effectively utilizing high‐utilization genetic testing like this has not been well conducted thus far. While there are several studies on cancer‐related genetic‐test utilization, disability status is rarely recognized as a factor, either as a motivator or a barrier. To the best of our knowledge, whether genetic‐test utilization patterns differ by disability status is yet to be studied.
Therefore, in this study, we aimed to analyze the entire population using national data sources to identify which genetic tests are actually widely utilized by individuals with disabilities in Korea, as well as to assess the screening rates for cancer among this group. Based on our findings, we intend to propose social and institutional measures to improve earlier detection and better treatment for cancer for people with disabilities.
2. MATERIALS AND METHODS
2.1. Data sources and sample criteria
As the majority of Korean citizens are enrolled in medical insurance, we used a national administrative dataset, the National Health Insurance Service of Korea (NHIS) and Korean Statistical Information Service (KOSIS), which comprises the entire record of genetic tests utilized by Korean citizens. We also identified individuals with disabilities by their Ministry of Health and Welfare disability registration statuses, leaving little room for measurement error. 15 Patients who underwent genetic testing between 2016 and 2019 were included in this study. The NHIS database stores the premier data of Korea, and includes information on health insurance qualifications, insurance premiums, diagnoses, and procedure codes of care paid by the national health insurance. We included individuals with Korean citizenship who underwent one of the 192 genetic tests (Appendix) listed in the National Health Insurance Payment Scheme after approval by the National Evidence‐based Healthcare Collaborating Agency of Korea through their New Medical Technology Evaluation. The total number of patients who underwent genetic testing between 2016 and 2019 was 175,330. We studied the annual trends, demographic characteristics, and medical care utilization of these individuals based on their disability status.
Types of genetic tests mainly include those used for various purposes, such as preventing specific rare diseases or diagnosing and treating cancer. The following genetic tests are the main genetic tests in the top five shown in the results of this study.
EGFR Gene Test: Genetic test to confirm drug sensitivity in patients with non‐small cell lung cancer (Non‐Small Cell Lung Cancer)
KRAS Gene Test: Genetic test to determine treatment policy for patients with colon cancer (colorectal cancer)
NRAS Gene Test: Genetic test to check for NRAS gene mutation in patients with colon cancer (colorectal cancer)
BRAF Gene Test: Genetic test to predict prognosis of patients undergoing surgery for papillary thyroid cancer (papillary thyroid carcinoma)
IGH Gene Test: Genetic test to differentiate between malignant lymphoma and benign lymphoproliferative disease (lymphoproliferative disease)
2.2. Statistical analyses
We compared the characteristics of patients who underwent genetic testing and identified the most frequently used method based on their disability status. Sociodemographic characteristics included sex and age (grouped in tens), health insurance premiums, and disability status. Health insurance premium levels reflected the economic well‐being of households. Recipients of medical benefits did not pay insurance premiums and were considered low‐income households. Those who paid health insurance premiums were categorized into five groups: low‐ (first quintile) to high‐income (fifth quintile) households. Disability status depends on registration in the Korea National Disability Registration System.
2.3. Ethical considerations
This study complied with the Guidelines on De‐Identification of Personal Data of Korea and was approved by the Institutional Review Board of Kyung Hee University [IRB No. KHSIRB‐20‐074(EA)] as a review exemption. Given that the study used de‐identified data, the board waived the requirement for obtaining informed consent from the participants.
3. RESULTS
3.1. Descriptive statistics
The number of genetic tests registered in the National Health Insurance payment scheme gradually increased from 92 in 2016 to 181 in 2017 and 192 in 2018. Accordingly, the frequency of genetic testing also increased from 38,239 in 2016 to 56,883 in 2017 and 70,396 in 2018. The number of patients who underwent genetic testing increased from 28,924 in 2016 to 56,118 in 2019. Reflecting these upward trends, the cost of genetic testing claims paid by national health insurance increased from approximately 6.2 billion in 2016 to 9.8 billion in 2017 and 11.8 billion in 2018 (Table 1).
TABLE 1.
The number of Korean patients who underwent genetic cancer tests according to their sociodemographic characteristics between 2016 and 2019 (Unit: persons).
| 2016 | 2017 | 2018 | 2019 | |||||
|---|---|---|---|---|---|---|---|---|
| Number | Proportion (%) | Number | Proportion (%) | Number | Proportion (%) | Number | Proportion (%) | |
| Total | 28,924 | 100 | 41,739 | 100 | 48,549 | 100 | 56,118 | 100 |
| Sex | ||||||||
| Men | 16,436 | 56.8 | 23,808 | 57.0 | 27,090 | 55.8 | 30,543 | 54.4 |
| Women | 12,488 | 43.2 | 17,931 | 43.0 | 21,459 | 44.2 | 25,575 | 45.6 |
| Ages in years | ||||||||
| 0–19 | 702 | 2.4 | 1288 | 3.1 | 1273 | 2.6 | 1322 | 2.4 |
| 20–29 | 575 | 2.0 | 1001 | 2.4 | 1186 | 2.4 | 1364 | 2.4 |
| 30–39 | 1141 | 3.9 | 1975 | 4.7 | 2486 | 5.1 | 3037 | 5.4 |
| 40–49 | 2708 | 9.4 | 4085 | 9.8 | 4581 | 9.4 | 5188 | 9.2 |
| 50–59 | 5926 | 20.5 | 8415 | 20.2 | 9369 | 19.3 | 10,477 | 18.7 |
| 60–69 | 8000 | 27.7 | 10,824 | 25.9 | 12,513 | 25.8 | 14,837 | 26.4 |
| 70–79 | 7273 | 25.1 | 10,195 | 24.4 | 12,013 | 24.7 | 13,676 | 24.4 |
| 80 or older | 2599 | 9.0 | 3956 | 9.5 | 5128 | 10.6 | 6217 | 11.1 |
| Health Insurance Premium | ||||||||
| Medical benefit recipients | 1942 | 6.7 | 2926 | 7.0 | 3459 | 7.1 | 4271 | 7.6 |
| First quintile | 3869 | 13.4 | 5932 | 14.2 | 7217 | 14.9 | 9046 | 16.1 |
| Second quintile | 3807 | 13.2 | 5256 | 12.6 | 6105 | 12.6 | 6453 | 11.5 |
| Third quintile | 4470 | 15.5 | 6518 | 15.6 | 7589 | 15.6 | 8747 | 15.6 |
| Fourth quintile | 5894 | 20.4 | 8537 | 20.5 | 9862 | 20.3 | 11,274 | 20.1 |
| Fiftth quintile | 8942 | 30.9 | 12,570 | 30.1 | 14,317 | 29.5 | 16,327 | 29.1 |
| Disability status | ||||||||
| Not registered | 25,340 | 87.6 | 36,526 | 87.5 | 42,348 | 87.2 | 49,060 | 87.4 |
| Registered | 3584 | 12.4 | 5213 | 12.5 | 6201 | 12.8 | 7058 | 12.6 |
3.2. Status of genetic testing use according to disability type
The analysis included 15 legally defined types of disabilities in Korea. Every year, an increasing number of people with disabilities undergo genetic testing. In 2016, when genetic testing was registered as a reimbursement, it was 0.16%, but in 2019, it approximately doubled to 0.27%. In particular, the usage rate of people with internal organ disabilities was the highest at 0.48%, and the usage rate of people with mental disabilities was the lowest at 0.09%. We could not analyze detailed test types by disability type to prevent personal identification because of the small number of users (Table 2).
TABLE 2.
Status of genetic testing according to disability type (Unit: persons).
| Type*** | 2016 | 2017 | 2018 | 2019 | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Number of registered people with disabilities* | Number of patients | Ratio (%)** | Number of registered people with disabilities* | Number of patients | Ratio (%)** | Number of registered people with disabilities* | Number of patients | Ratio (%)** | Number of registered people with disabilities* | Number of patients | Ratio (%)** | |
| Total | 2,511,051 | 3584 | 0.14 | 2,545,637 | 5213 | 0.20 | 2,585,876 | 6201 | 0.24 | 2,618,918 | 7058 | 0.27 |
| Disability of principal external bodily functions | 2,064,356 | 3120 | 0.15 | 2,612,276 | 4413 | 0.17 | 2,110,587 | 5302 | 0.25 | 2,129,630 | 6049 | 0.28 |
| Disability of the extremities | 1,267,174 | 1861 | 0.15 | 1,254,130 | 2563 | 0.20 | 1,238,532 | 2952 | 0.24 | 1,223,135 | 3239 | 0.26 |
| Disability due to brain injury | 250,456 | 389 | 0.16 | 252,819 | 687 | 0.27 | 253,083 | 717 | 0.28 | 252,188 | 812 | 0.32 |
| Visual disability | 252,794 | 373 | 0.15 | 252,632 | 482 | 0.19 | 252,957 | 597 | 0.24 | 253,055 | 703 | 0.28 |
| Hearing disability | 271,843 | 462 | 0.17 | 302,003 | 641 | 0.21 | 342,582 | 977 | 0.29 | 377,094 | 1216 | 0.32 |
| Speech and language disability | 19,409 | 32 | 0.16 | 20,321 | 40 | 0.20 | 20,744 | 54 | 0.26 | 21,485 | 73 | 0.34 |
| Facial deformity disability | 2680 | 3 | 0.11 | 2692 | 0 | 0.00 | 2689 | 5 | 0.19 | 2673 | 6 | 0.22 |
| Disability of internal organs | 128,490 | 349 | 0.27 | 134,264 | 569 | 0.42 | 139,529 | 630 | 0.45 | 144,694 | 699 | 0.48 |
| Disability due to renal failure | 78,750 | 120 | 0.15 | 83,562 | 214 | 0.26 | 87,892 | 242 | 0.28 | 92,408 | 309 | 0.33 |
| Disability due to heart problems | 5507 | 12 | 0.22 | 5399 | 23 | 0.43 | 5304 | 27 | 0.51 | 5266 | 26 | 0.49 |
| Disability due to respiratory problems | 11,831 | 39 | 0.33 | 11,807 | 41 | 0.35 | 11,761 | 63 | 0.54 | 11,522 | 53 | 0.46 |
| Disability due to liver disease | 11,042 | 25 | 0.23 | 11,843 | 34 | 0.29 | 12,524 | 42 | 0.34 | 13,154 | 43 | 0.33 |
| Disability due to ostomy | 14,404 | 142 | 0.99 | 14,718 | 250 | 1.70 | 15,027 | 241 | 1.60 | 15,290 | 253 | 1.65 |
| Disability due to epilepsy | 6956 | 11 | 0.16 | 6935 | 7 | 0.10 | 7021 | 15 | 0.21 | 7054 | 15 | 0.21 |
| Mental disability | 318,205 | 115 | 0.04 | 326,776 | 231 | 0.07 | 335,760 | 269 | 0.08 | 344,594 | 310 | 0.09 |
| Intellectual disability | 195,283 | 67 | 0.03 | 200,903 | 127 | 0.06 | 206,917 | 162 | 0.08 | 212,936 | 193 | 0.09 |
| Disability due to autism | 22,853 | 3 | 0.01 | 24,698 | 3 | 0.01 | 26,703 | 5 | 0.02 | 28,678 | 9 | 0.03 |
| Disability due to mental disorders | 100,069 | 45 | 0.04 | 101,175 | 101 | 0.10 | 102,140 | 102 | 0.10 | 102,980 | 108 | 0.10 |
* The number of registered people with disabilities is based on the Ministry of Health and Welfare's “Status of people with disabilities” data.
** The ratio is the number of genetic test patients compared to the number of registered disabled people (= number of patients/number of registered people with disabilities × 100).
*** The types of disabilities are based on the criteria classified by Korean law.
Boldface is intended to distinguish between each type of disability.
3.3. Differences in the percentage of patients using genetic testing according to disability status
A higher proportion of people with disabilities utilized genetic testing than those without disabilities (p < 0.001), regardless of sex and age (Table 3). This difference grows every year.
TABLE 3.
Comparison of the proportions of patients who utilize oncogene genetic tests for persons with and without disabilities (unit: %).
| 2016 | 2017 | 2018 | 2019 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| The proportion of patients who utilized oncogene genetic tests (%) | p‐value | The proportion of patients who utilized oncogene genetic tests (%) | p‐value | The proportion of patients who utilized oncogene genetic tests (%) | p‐value | The proportion of patients who utilized oncogene genetic tests (%) | p‐value | |||||||||
| All | People without disabilities | People with disabilities | All | People without disabilities | People with disabilities | All | People without disabilities | People with disabilities | All | People without disabilities | People with disabilities | |||||
| All | 0.06 | 0.05 | 0.14 | <0.001 | 0.08 | 0.07 | 0.20 | <0.001 | 0.09 | 0.09 | 0.24 | <0.001 | 0.11 | 0.10 | 0.27 | <0.001 |
| Sex | ||||||||||||||||
| Men | 0.06 | 0.06 | 0.17 | <0.001 | 0.09 | 0.08 | 0.23 | <0.001 | 0.10 | 0.09 | 0.27 | <0.001 | 0.12 | 0.11 | 0.30 | <0.001 |
| Women | 0.05 | 0.05 | 0.11 | <0.001 | 0.07 | 0.07 | 0.16 | <0.001 | 0.08 | 0.08 | 0.20 | <0.001 | 0.10 | 0.09 | 0.22 | <0.001 |
| Ages (years) | ||||||||||||||||
| 0–19 | 0.01 | 0.01 | 0.07 | <0.001 | 0.01 | 0.01 | 0.12 | <0.001 | 0.01 | 0.01 | 0.10 | <0.001 | 0.01 | 0.01 | 0.11 | <0.001 |
| 20–29 | 0.01 | 0.01 | 0.04 | <0.001 | 0.01 | 0.01 | 0.05 | <0.001 | 0.02 | 0.02 | 0.05 | <0.001 | 0.02 | 0.02 | 0.05 | <0.001 |
| 30–39 | 0.01 | 0.01 | 0.04 | <0.001 | 0.03 | 0.03 | 0.06 | <0.001 | 0.03 | 0.03 | 0.09 | <0.001 | 0.04 | 0.04 | 0.10 | <0.001 |
| 40–49 | 0.03 | 0.03 | 0.06 | <0.001 | 0.05 | 0.05 | 0.10 | <0.001 | 0.05 | 0.05 | 0.12 | <0.001 | 0.06 | 0.06 | 0.11 | <0.001 |
| 50–59 | 0.07 | 0.07 | 0.10 | <0.001 | 0.10 | 0.10 | 0.15 | <0.001 | 0.11 | 0.11 | 0.16 | <0.001 | 0.12 | 0.12 | 0.19 | <0.001 |
| 60–69 | 0.15 | 0.15 | 0.18 | <0.001 | 0.19 | 0.19 | 0.25 | <0.001 | 0.21 | 0.21 | 0.28 | <0.001 | 0.24 | 0.23 | 0.30 | <0.001 |
| 70–79 | 0.23 | 0.23 | 0.24 | <0.001 | 0.31 | 0.31 | 0.32 | <0.001 | 0.35 | 0.35 | 0.37 | <0.001 | 0.39 | 0.38 | 0.43 | <0.001 |
| 80 or older | 0.18 | 0.18 | 0.18 | 0.140 | 0.25 | 0.26 | 0.24 | <0.001 | 0.31 | 0.31 | 0.31 | 0.311 | 0.34 | 0.35 | 0.33 | <0.001 |
Note: Numbers calculated by the authors based on the Population and Housing Census by Statistics Korea and Health Statistics of the People with Disabilities by the Ministry of Health and Welfare of Korea; p‐values are for t‐tests for differences between two proportions among people with and without disabilities.
Boldface is intended to distinguish between each type of disability.
3.4. Frequently utilized genetic testing according to disability status
We analyzed the five most commonly utilized genetic tests across different age groups. Notably, leukemia was the predominant diagnosis among individuals with disabilities aged 39 years or younger. In people with and without disabilities, EGFR gene tests related to lung cancer and KRAS and NRAS gene tests related to colorectal cancer appeared as the top genetic test items among people aged ≥40 years (Table 4).
TABLE 4.
The most frequently used genetic tests are based on disability status and age.
| Ages (years) | Disability status | Ranked | ||||
|---|---|---|---|---|---|---|
| First (relevant disease) | Second (relevant disease) | Third (relevant disease) | Fourth (relevant disease) | Fifth (relevant disease) | ||
| 0–19 | Without disabilities |
WT1 test (acute myelocytic leukemia) |
IGH test (lymphoproliferative disease) |
TRG test (lymphoproliferative disease) |
IGK test (lymphoproliferative disease) |
RNF213 test (moyamoya disease) |
| With disabilities |
IGH test (lymphoproliferative disease) |
WT1 Mutation testing (acute myelocytic leukemia) |
IGK Mutation testing (lymphoproliferative disease) |
TRG Mutation testing (lymphoproliferative disease) |
CHD7 Mutation testing (charge syndrome) |
|
| 20–29 | Without disabilities |
WT1 Mutation testing (acute myelocytic leukemia) |
AALC Mutation testing (acute myelocytic leukemia) |
IGH Mutation testing (lymphoproliferative disease) |
BRAF Mutation testing (papillary thyroid carcinoma) |
RNF213 Mutation testing (moyamoya disease) |
| With disabilities |
BAALC Mutation testing (acute myelocytic leukemia) |
WT1 Mutation testing (acute myelocytic leukemia) |
JAK2 Mutation testing (chronic myeloproliferative disease) |
TBP Mutation testing (Spinocerebellar Ataxia Type 17) |
ATXN8 Mutation testing (Spinocerebellar Ataxia Type 8) |
|
| 30–39 | Without disabilities |
JAK2 Mutation testing (chronic myeloproliferative disease) |
WT1 Mutation testing (acute myelocytic leukemia) |
MTHFR Mutation testing (hyperhomocysteinemia) |
BAALC Mutation testing (acute myelocytic leukemia) |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
| With disabilities |
TBP Mutation testing (Spinocerebellar Ataxia Type 17) |
RNF213 Mutation testing (Moyamoya disease) |
BAALC Mutation testing (Acute myeloblastic leukemia) JAK2 Mutation testing (Chronic myeloproliferative disease) |
‐ |
ATXN8 Mutation testing (Spinocerebellar Ataxia Type 8) |
|
| 40–49 | Without disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
KRAS Mutation testing (colorectal cancer) |
WT1 Mutation testing (Acute myelocytic leukemia) |
IGH Mutation testing (lymphoproliferative disease) |
| With disabilities |
KRAS Mutation testing (colorectal cancer) |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
WT1 Mutation testing (Acute myelocytic leukemia) |
JAK2 Mutation testing (Chronic myeloproliferative disease) |
BAALC Mutation testing (Acute myelocytic leukemia) |
|
| 50–59 | Without disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
NRAS Mutation testing (colorectal cancer) |
IGH Mutation testing (lymphoproliferative disease) |
| With disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
TBP Mutation testing (Spinocerebellar Ataxia Type 17) |
|
| 60–69 | Without disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
IGH Mutation testing (lymphoproliferative disease) |
| With disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
IGH Mutation testing (lymphoproliferative disease) |
|
| 70–79 | Without disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
IGH Mutation testing (lymphoproliferative disease) |
| With disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
IGH Mutation testing (lymphoproliferative disease) |
|
| 80 or older | Without disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
IGH Mutation testing (lymphoproliferative disease) |
| With disabilities |
EGFR Mutation testing (Non‐Small Cell Lung Cancer) |
KRAS Mutation testing (colorectal cancer) |
NRAS Mutation testing (colorectal cancer) |
BRAF Mutation testing (papillary thyroid carcinoma) |
CYP2C9 Mutation testing (CYP2C9 metabolizing drugs*) |
|
Include warfarin, phenytoin, fluoxetine, sertraline, and losartan.
3.5. Cancer screening rates for people with disabilities by cancer type
In individuals with disabilities, the rate of cancer screening was generally low for all types except lung cancer. When considering specific types, excluding cervical cancer, which was only screened in women, lung and colon cancers had the lowest screening rates. There was a notable trend: younger individuals, those with lower income, more severe disabilities, or a shorter duration since disability registration tended to have lower cancer screening rates. Particularly, people with mental disabilities recorded the lowest screening rates. Individuals with internal organ disabilities followed the low screening rates, and then those with disabilities affecting major external body functions (Table 5) (Figure 1).
TABLE 5.
Cancer screening rates for people with disabilities by cancer type.
| General health checkup | Cancer screening | Lung cancer | Colon cancer | Stomach cancer | Liver cancer | Breast cancer | Cervical cancer | ||
|---|---|---|---|---|---|---|---|---|---|
| Examination rate (%)* | |||||||||
| Total | Total | 57.9 | 39.2 | 34.4 | 30.3 | 46.7 | 55.9 | 41.4 | 34.2 |
| Control group | People without disabilities | 67.8 | 49.6 | 34.0 | 35.2 | 55.7 | 69.2 | 57.0 | 53.3 |
| Sex | Men | 60.4 | 40.9 | 34.7 | 32.5 | 48.7 | 56.4 | ‐ | ‐ |
| Women | 54.2 | 37.1 | 24.8 | 27.7 | 44.1 | 54.9 | 41.4 | 34.2 | |
| Age in years | 0–19 | 85.7 | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ | ‐ |
| 20–29 | 47.5 | 15.3 | ‐ | ‐ | ‐ | ‐ | ‐ | 15.3 | |
| 30–39 | 54.4 | 31.1 | ‐ | ‐ | ‐ | ‐ | ‐ | 31.1 | |
| 40–49 | 60.3 | 48.3 | ‐ | ‐ | 44.0 | 57.4 | 43.5 | 39.7 | |
| 50–59 | 60.9 | 38.2 | 31.3 | 28.1 | 47.0 | 55.7 | 49.7 | 46.6 | |
| 60–69 | 66.1 | 47.2 | 36.6 | 37.7 | 56.0 | 61.4 | 57.0 | 51.3 | |
| 70–79 | 62.6 | 42.9 | 32.8 | 34.6 | 53.1 | 55.5 | 46.5 | 37.2 | |
| 80 or older | 35.5 | 21.9 | ‐ | 16.3 | 25.7 | 34.2 | 17.3 | 10.7 | |
| Categories of Policyholders | Employer‐provided policyholders | 65.3 | 44.6 | 38.5 | 34.8 | 53.6 | 62.7 | 46.7 | 39.1 |
| Locally provided policyholders | 51.1 | 39.0 | 33.9 | 30.3 | 45.9 | 59.0 | 41.4 | 34.6 | |
| Persons eligible for medical care | 33.5 | 24.0 | 21.9 | 17.4 | 28.2 | 39.2 | 26.9 | 21.3 | |
| Quartile by insurance premium | 1st quartile | 63.7 | 45.4 | 38.8 | 37.0 | 52.7 | 64.6 | 48.7 | 40.6 |
| 2nd quartile | 65.4 | 47.3 | 41.3 | 38.3 | 55.1 | 66.3 | 50.1 | 43.0 | |
| 3rd quartile | 63.4 | 44.5 | 37.4 | 34.5 | 53.1 | 63.6 | 47.0 | 40.2 | |
| 4th quartile | 56.3 | 38.3 | 31.1 | 28.6 | 47.2 | 55.6 | 39.8 | 32.3 | |
| Urbanicity | Large city | 57.7 | 38.4 | 34.2 | 29.6 | 46.4 | 56.1 | 42.3 | 37.0 |
| Small and medium‐sized city | 58.5 | 39.9 | 36.9 | 31.2 | 46.8 | 57.1 | 41.0 | 33.7 | |
| Rural | 56.2 | 38.7 | 25.7 | 28.9 | 47.2 | 50.9 | 40.3 | 28.8 | |
| Region | Seoul | 55.2 | 36.6 | 27.3 | 29.3 | 44.0 | 49.9 | 41.5 | 37.1 |
| Busan | 57.3 | 37.8 | 33.8 | 28.4 | 46.1 | 60.0 | 41.2 | 34.8 | |
| Daegu | 57.0 | 35.9 | 33.0 | 23.6 | 45.4 | 58.9 | 37.3 | 33.2 | |
| Incheon | 61.1 | 42.6 | 45.2 | 35.5 | 49.5 | 58.6 | 45.0 | 38.2 | |
| Gwangju | 59.6 | 41.6 | 39.6 | 30.7 | 49.9 | 58.2 | 45.1 | 38.4 | |
| Daejeon | 61.8 | 41.3 | 35.9 | 30.8 | 50.7 | 60.2 | 47.0 | 39.6 | |
| Ulsan | 63.5 | 41.1 | 36.6 | 31.2 | 48.9 | 60.6 | 42.7 | 39.9 | |
| Sejong | 63.9 | 42.9 | 33.9 | 29.1 | 52.0 | 62.7 | 41.8 | 36.6 | |
| Kyeonggi | 58.6 | 39.8 | 33.8 | 32.3 | 46.2 | 54.7 | 41.9 | 35.9 | |
| Gangwon | 58.4 | 40.1 | 33.6 | 32.4 | 47.4 | 52.6 | 41.1 | 33.0 | |
| Chungcheongbuk | 60.0 | 40.4 | 29.8 | 30.3 | 49.8 | 53.4 | 43.7 | 34.3 | |
| Chungcheongnam | 57.2 | 39.3 | 31.2 | 30.8 | 46.6 | 52.9 | 40.5 | 31.2 | |
| Jeollabuk | 58.8 | 40.5 | 30.8 | 30.8 | 48.4 | 54.1 | 41.7 | 32.9 | |
| Jeollanam | 56.9 | 40.8 | 41.4 | 30.2 | 48.1 | 57.3 | 42.3 | 29.7 | |
| Gyeongsangbuk | 56.2 | 38.7 | 37.1 | 29.4 | 45.6 | 56.9 | 36.9 | 28.3 | |
| Gyeongsangnam | 58.0 | 39.3 | 36.0 | 29.1 | 47.5 | 60.4 | 39.8 | 30.0 | |
| Jeju | 52.7 | 33.3 | 45.6 | 23.9 | 40.2 | 56.2 | 38.2 | 30.6 | |
| Disability type | Disability of principal external bodily functions | 60.9 | 40.8 | 35.2 | 31.5 | 49.1 | 60.7 | 42.9 | 36.4 |
| Disability of the extremities | 65.6 | 44.9 | 35.3 | 34.6 | 54.1 | 63.5 | 48.7 | 41.4 | |
| Disability due to brain injury | 38.2 | 25.0 | 28.9 | 19.7 | 28.2 | 44.5 | 22.0 | 19.3 | |
| Visual disability | 62.3 | 41.5 | 35.3 | 31.6 | 50.1 | 61.7 | 45.1 | 39.4 | |
| Hearing disability | 57.3 | 37.5 | 37.4 | 29.4 | 45.2 | 57.4 | 36.0 | 29.5 | |
| Speech and language disability | 50.6 | 32.0 | 25.0 | 24.6 | 35.9 | 51.1 | 36.6 | 33.3 | |
| Facial deformity disability | 64.4 | 43.5 | 31.8 | 32.6 | 52.2 | 62.5 | 48.9 | 44.5 | |
| Disability of internal organs | 42.9 | 31.4 | 29.6 | 22.8 | 33.6 | 40.0 | 33.6 | 31.1 | |
| Disability due to renal failure | 39.2 | 29.3 | 29.3 | 20.4 | 30.6 | 45.1 | 30.8 | 29.6 | |
| Disability due to heart problems | 53.5 | 38.3 | 27.6 | 31.4 | 41.5 | 41.1 | 43.9 | 38.7 | |
| Disability due to respiratory problems | 46.7 | 33.2 | 26.5 | 26.6 | 36.3 | 52.5 | 35.9 | 33.9 | |
| Disability due to liver disease | 55.4 | 40.5 | 29.2 | 31.1 | 44.4 | 33.4 | 47.4 | 44.7 | |
| Disability due to ostomy | 46.0 | 29.6 | 35.8 | 22.0 | 34.8 | 46.8 | 31.8 | 22.6 | |
| Disability due to epilepsy | 49.3 | 38.4 | 27.8 | 27.8 | 44.3 | 51.8 | 47.7 | 41.3 | |
| Mental disability | 43.5 | 27.4 | 22.1 | 20.9 | 30.7 | 44.3 | 31.0 | 20.7 | |
| Intellectual disability | 46.7 | 26.6 | 17.9 | 20.4 | 31.2 | 45.5 | 29.6 | 16.8 | |
| Disability due to autism | 40.7 | 8.3 | 0.0 | 16.0 | 31.3 | 50.0 | 23.5 | 2.8 | |
| Disability due to mental disorders | 38.1 | 28.5 | 23.6 | 21.2 | 30.3 | 43.1 | 32.2 | 26.6 | |
| Disability severity | Severe (level 1 ~ 3) | 46.1 | 30.4 | 29.6 | 23.3 | 35.1 | 49.0 | 30.9 | 24.8 |
| Mild (level 4 ~ 6) | 64.1 | 43.4 | 36.0 | 33.5 | 52.3 | 59.4 | 46.2 | 39.2 | |
| Years since disability registration | Less than 10 years | 52.6 | 36.0 | 34.5 | 27.8 | 42.4 | 50.3 | 37.6 | 31.6 |
| Between 10 and 20 years | 60.1 | 40.7 | 34.6 | 31.3 | 48.8 | 58.0 | 43.4 | 35.8 | |
| More than 20 years | 59.0 | 39.4 | 34.1 | 30.9 | 46.8 | 58.0 | 40.8 | 33.2 | |
The data were prepared as of 2020 because the country has not yet provided the data for 2021.
The examination rate was calculated based on the number of people subject to examination/number of people examined.
FIGURE 1.

Cancer screening rates for people with disabilities by cancer type (%).
4. DISCUSSION
This study aims to achieve two objectives. First, it seeks to determine the frequency and types of genetic tests utilized by individuals with disabilities, specifically focusing on identifying the types of cancer that are most needed among this population. Second, it aims to evaluate the cancer screening rates among individuals with disabilities for the specific types of cancer identified earlier.
The results of the first objective are as follows. The inclusion of genetic tests in the National Health Insurance Service is increasing, leading to a rise in the frequency of genetic testing. The study findings revealed that the national health insurance expenditure on genetic testing amounted to 6.2 billion in 2016, 9.8 billion in 2017, and approximately 11.8 billion in 2018.
In Korea, the government continues to supplement the list of genetic tests on national health insurance benefits to meet the public demand for healthcare and promote general health. Although numerous citizens benefit from these tests, people with disabilities might not benefit as much because of difficulties in accessing and understanding emerging medical technologies. 16
People with disabilities aged <40 years primarily undergo tests for genetic diseases, such as lymphoproliferative diseases, acute myelocytic leukemia, and chronic myeloproliferative diseases. Among those aged ≥40 years, who accounted for 88.4% of the total number of people with disabilities, the top three most frequently used tests were colorectal and lung cancer‐related (KRAS, NRAS, and EGFR).
Cancer is the most common cause of death for people with disabilities in Korea. The crude death rate for the entire population because of cancer is 161.1/100,000 people, whereas the number for people with disabilities is 3.8 times higher at 604.3/100,000 people. In other words, cancer is more lethal in individuals with disabilities than in those without. 9 This result is consistent with findings in studies conducted in other countries. 6 , 17 Our findings show that among people with disabilities aged 40 years and older, genetic tests related to colorectal and lung cancer are the most frequently used. These numbers imply a critical need to mitigate cancer risk in individuals with disabilities at various stages, including prevention, diagnosis, treatment, and care.
Based on these findings, we analyzed the cancer screening rates among individuals with disabilities focusing on two specific types of cancer selected from among numerous cancers: lung cancer and colorectal cancer.
As of 2020, the cancer screening rate among people with disabilities was 39.2%, which was lower than the cancer screening rate of 55.3% among people without disabilities in South Korea. 18 Among different types of disabilities, people with brain lesions, intellectual disabilities, and those on the autism spectrum have lower cancer screening rates. 19 Regarding cancer type, the colorectal cancer screening rate through methods such as colonoscopy or fecal occult blood testing was 30.3% for people with disabilities and 35.2% for people without disabilities, both of which are lower than all averages for cancer screening rates. 20 The percentages of lung cancer were 34.0% and 34.4% for people with and without disabilities, respectively, and a similar trend can also be found in studies conducted in other countries. 21
The Korean government introduced the National Cancer Screening Program in 2002 to select six types of cancer to reduce cancer mortality through early cancer detection because of this risk. 22 Among them, colon cancer and lung cancer are also included. However, the risk of cancer remains high among people with disabilities. One of the reasons for this is the lower uptake rate for cancer screening by people with disabilities due to multiple barriers. 23 , 24
For example, in colonoscopy, which is mainly used in colon cancer screening, people with disabilities face barriers such as limitations in changing positions, difficulties in communication, lack of mobility equipment, etc. Significant variances exist in the obstacles faced during cancer screening, which are influenced by the type and severity of disability. 25 , 26 , 27 , 28 However, governmental institutional support in addressing these challenges remains notably insufficient.
It is crucial to improve early detection methods that are specifically designed for this population to reduce cancer‐related risks among individuals with disabilities. Particularly, those with reduced cognitive abilities, such as individuals with brain lesions or those on the autism spectrum, could significantly benefit from specially tailored promotional efforts. These efforts might involve providing information in language formats that align with their cognitive understanding levels. For example, we can proactively identify and engage with high‐risk groups within the disabled population, especially those with a familial history of cancer. We can foster greater awareness and participation by offering them comprehensive information about the advantages of early screening and genetic testing.
Additionally, the development and implementation of health literacy programs are vital. These programs should aim to demystify complex medical concepts, presenting them in a straightforward and accessible manner. Emphasizing the workings, benefits, and role of genetic testing in early cancer detection in an easily comprehensible language can further promote screening uptake.
5. LIMITATIONS
In Korea, individuals with disabilities are often overlooked in medical research and healthcare policy debates. 29 Specifically, research focusing on genetic testing for people with disabilities has been notably absent, only garnering attention recently. While genetic testing holds significant relevance for this demographic, it presents various challenges that must be addressed.
Although this study offers valuable insights, it has certain limitations. The primary constraint is that the findings, although obtained from the National Health Insurance Service (NHIS) data in the Republic of Korea, are based on a relatively small sample of individuals with disabilities. Consequently, these results may not be widely generalizable. Second, the low number of participants who underwent genetic testing, relative to the diversity of tests available, limited the depth of our analysis. Detailed analysis was further constrained to avoid the risk of individual identification. Despite these limitations, the study is noteworthy as it pioneers the exploration of genetic testing needs among people with disabilities in Korea. Additionally, the results are discussed in the context of Korea's current health and welfare policies. Further research, incorporating data from other countries, is essential to enhance understanding and substantiate our findings.
6. CONCLUSION
This study represents a pioneering analysis of the utilization of genetic testing among individuals with disabilities in Korea, identifying the specific diseases for which such testing is most commonly employed in this group. As far as we are aware, this marks the first study in South Korea to explore the rate of genetic testing for cancer using national data among people with disabilities.
Our research made significant findings using data from the National Health Insurance database and supplemented by other reliable sources like Statistical Korea and the National Office of Statistics. Notably, the most crucial genetic tests for people with disabilities were those related to lung and colon cancer. However, despite the heightened need and risk in this demographic, the rate of testing for lung and colon cancer through national health checkups was lower compared to other cancer types. This disparity suggests potential missed opportunities for early cancer detection in older adults with disabilities. Therefore, it is imperative for the government to actively devise strategies to enhance national cancer screening rates among people with disabilities. Such measures could pave the way for people with disabilities to lead lives of equitable health and well‐being.
AUTHOR CONTRIBUTIONS
Gwanwook Bang: Conceptualization (equal); methodology (lead); visualization (lead); writing – original draft (lead). Minji Park: Methodology (equal); writing – review and editing (supporting). Jeong‐yeon Seon: Data curation (lead); formal analysis (lead). So‐Youn Park: Conceptualization (equal); project administration (lead); supervision (lead); writing – review and editing (lead).
FUNDING INFORMATION
This research was supported by the National Research Foundation of Korea (NRF‐2019S1A5A2A03051412). The funders had no role in the study's design, in the collection, analysis, or interpretation of data, in the writing of the manuscript, or in the decision to publish the results.
CONFLICT OF INTEREST STATEMENT
The authors declare no conflict of interest.
ETHICAL APPROVAL AND PATIENT CONSENT
This study complied with the Guidelines on De‐Identification of Personal Data of Korea and was approved by the Institutional Review Board of Kyung Hee University [IRB No. KHSIRB‐20‐074(EA)] as a review exemption. Given that the study used de‐identified data, the board waived the requirement for obtaining informed consent from the participants.
ACKNOWLEDGEMENTS
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. NRF‐2023R1A2C2004545).
LIST OF CANCER‐RELATED GENETIC TESTS REGISTERED WITH NATIONAL HEALTH INSURANCE BENEFITS
| No. | Test |
|---|---|
| 1 | Genetic Tests for Germline Variants_Basic Target Amplification[F8 Gene] |
| 2 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[CYP2C9 Gene] |
| 3 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[F2 Gene] |
| 4 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[F5 Gene] |
| 5 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[MTHFR Gene] |
| 6 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[TPMT Gene] |
| 7 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[VKORC1 Gene] |
| 8 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Hybridization[TGFBI Gene] |
| 9 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Fragment Analysis _PCR‐PAGE[ATXN8 Gene] |
| 10 | Genetic Tests for Germline Variants_PCR‐Extended_PCR‐Fragment Analysis _PCR‐PAGE[TBP Gene] |
| 11 | Genetic Tests for Germline Variants_Sequencing [ELANE Gene] |
| 12 | Genetic Tests for Germline Variants_Sequencing [SRD5A2 Gene] |
| 13 | Genetic Tests for Germline Variants_Sequencing [TTR Gene] |
| 14 | Genetic Tests for Germline Variants_Sequencing [AVP Gene] |
| 15 | Genetic Tests for Germline Variants_Sequencing [KCNJ11 Gene] |
| 16 | Genetic Tests for Germline Variants_Sequencing [KRAS Gene] |
| 17 | Genetic Tests for Germline Variants_Sequencing [NPC2 Gene] |
| 18 | Genetic Tests for Germline Variants_Sequencing [PHOX2B Gene] |
| 19 | Genetic Tests for Germline Variants_Sequencing [POU3F4 Gene] |
| 20 | Genetic Tests for Germline Variants_Sequencing [RNF213 Gene, p.R4810K] |
| 21 | Genetic Tests for Germline Variants_Sequencing [RPS19 Gene] |
| 22 | Genetic Tests for Germline Variants_Sequencing [SBDS Gene] |
| 23 | Genetic Tests for Germline Variants_Sequencing [SDHD Gene] |
| 24 | Genetic Tests for Germline Variants_Sequencing [TOR1A gene] |
| 25 | Genetic Tests for Germline Variants_Sequencing [ACVRL1 Gene] |
| 26 | Genetic Tests for Germline Variants_Sequencing [ALDOB Gene] |
| 27 | Genetic Tests for Germline Variants_Sequencing [ARG1 Gene] |
| 28 | Genetic Tests for Germline Variants_Sequencing [ARSA Gene] |
| 29 | Genetic Tests for Germline Variants_Sequencing [DHCR7 Gene] |
| 30 | Genetic Tests for Germline Variants_Sequencing [F7 Gene] |
| 31 | Genetic Tests for Germline Variants_Sequencing [G6PC Gene] |
| 32 | Genetic Tests for Germline Variants_Sequencing [GALE Gene] |
| 33 | Genetic Tests for Germline Variants_Sequencing [GALK1 Gene] |
| 34 | Genetic Tests for Germline Variants_Sequencing [GFAP Gene] |
| 35 | Genetic Tests for Germline Variants_Sequencing [GLA Gene] |
| 36 | Genetic Tests for Germline Variants_Sequencing [HAX1 Gene] |
| 37 | Genetic Tests for Germline Variants_Sequencing [IL2RG Gene] |
| 38 | Genetic Tests for Germline Variants_Sequencing [MEN1 Gene] |
| 39 | Genetic Tests for Germline Variants_Sequencing [NR0B1 Gene] |
| 40 | Genetic Tests for Germline Variants_Sequencing [PANK2 Gene] |
| 41 | Genetic Tests for Germline Variants_Sequencing [PRF1 Gene] |
| 42 | Genetic Tests for Germline Variants_Sequencing [SLC22A12 Gene] |
| 43 | Genetic Tests for Germline Variants_Sequencing [SLC2A1 Gene] |
| 44 | Genetic Tests for Germline Variants_Sequencing [SLC37A4 Gene] |
| 45 | Genetic Tests for Germline Variants_Sequencing [TGFB1 Gene] |
| 46 | Genetic Tests for Germline Variants_Sequencing [ACADS Gene] |
| 47 | Genetic Tests for Germline Variants_Sequencing [AVPR2 Gene] |
| 48 | Genetic Tests for Germline Variants_Sequencing [COL10A1 Gene] |
| 49 | Genetic Tests for Germline Variants_Sequencing [CYP17A1 Gene] |
| 50 | Genetic Tests for Germline Variants_Sequencing [EDA Gene] |
| 51 | Genetic Tests for Germline Variants_Sequencing [EPOR Gene] |
| 52 | Genetic Tests for Germline Variants_Sequencing [IKBKG Gene] |
| 53 | Genetic Tests for Germline Variants_Sequencing [MAT1A Gene] |
| 54 | Genetic Tests for Germline Variants_Sequencing [PRRT2 Gene] |
| 55 | Genetic Tests for Germline Variants_Sequencing [RUNX2 Gene] |
| 56 | Genetic Tests for Germline Variants_Sequencing [SDHB Gene] |
| 57 | Genetic Tests for Germline Variants_Sequencing [SOX9 Gene] |
| 58 | Genetic Tests for Germline Variants_Sequencing [SLC7A7 Gene] |
| 59 | Genetic Tests for Germline Variants_Sequencing [STAR Gene] |
| 60 | Genetic Tests for Germline Variants_Sequencing [TGFBR1 Gene] |
| 61 | Genetic Tests for Germline Variants_Sequencing [THRB Gene] |
| 62 | Genetic Tests for Germline Variants_Sequencing [ACTA2 Gene] |
| 63 | Genetic Tests for Germline Variants_Sequencing [PTS Gene] |
| 64 | Genetic Tests for Germline Variants_Sequencing [GATA3 Gene] |
| 65 | Genetic Tests for Germline Variants_Sequencing [ABCD1 Gene] |
| 66 | Genetic Tests for Germline Variants_Sequencing [ASL Gene] |
| 67 | Genetic Tests for Germline Variants_Sequencing [CYBB Gene] |
| 68 | Genetic Tests for Germline Variants_Sequencing [ENG Gene] |
| 69 | Genetic Tests for Germline Variants_Sequencing [FAH Gene] |
| 70 | Genetic Tests for Germline Variants_Sequencing [FUS Gene] |
| 71 | Genetic Tests for Germline Variants_Sequencing [GALC Gene] |
| 72 | Genetic Tests for Germline Variants_Sequencing [GALT Gene] |
| 73 | Genetic Tests for Germline Variants_Sequencing [GBA Gene] |
| 74 | Genetic Tests for Germline Variants_Sequencing [GLUD1 Gene] |
| 75 | Genetic Tests for Germline Variants_Sequencing [IDUA Gene] |
| 76 | Genetic Tests for Germline Variants_Sequencing [IVD Gene] |
| 77 | Genetic Tests for Germline Variants_Sequencing [LMNA Gene] |
| 78 | Genetic Tests for Germline Variants_Sequencing [MCCC1 Gene] |
| 79 | Genetic Tests for Germline Variants_Sequencing [PAH Gene] |
| 80 | Genetic Tests for Germline Variants_Sequencing [PAX6 Gene] |
| 81 | Genetic Tests for Germline Variants_Sequencing [PCCB Gene] |
| 82 | Genetic Tests for Germline Variants_Sequencing [POR Gene] |
| 83 | Genetic Tests for Germline Variants_Sequencing [PRODH Gene] |
| 84 | Genetic Tests for Germline Variants_Sequencing [PYGM Gene] |
| 85 | Genetic Tests for Germline Variants_Sequencing [SALL1 Gene] |
| 86 | Genetic Tests for Germline Variants_Sequencing [SLC25A13 Gene] |
| 87 | Genetic Tests for Germline Variants_Sequencing [UMOD Gene] |
| 88 | Genetic Tests for Germline Variants_Sequencing [ACADM Gene] |
| 89 | Genetic Tests for Germline Variants_Sequencing [ALB Gene] |
| 90 | Genetic Tests for Germline Variants_Sequencing [F11 Gene] |
| 91 | Genetic Tests for Germline Variants_Sequencing [FLCN Gene] |
| 92 | Genetic Tests for Germline Variants_Sequencing [FOXP3 Gene] |
| 93 | Genetic Tests for Germline Variants_Sequencing [GBE1 Gene] |
| 94 | Genetic Tests for Germline Variants_Sequencing [GCDH Gene] |
| 95 | Genetic Tests for Germline Variants_Sequencing [GNAS Gene] |
| 96 | Genetic Tests for Germline Variants_Sequencing [HADHB Gene] |
| 97 | Genetic Tests for Germline Variants_Sequencing [MCCC2 Gene] |
| 98 | Genetic Tests for Germline Variants_Sequencing [MPL Gene] |
| 99 | Genetic Tests for Germline Variants_Sequencing [MSH6 Gene] |
| 100 | Genetic Tests for Germline Variants_Sequencing [MTM1 Gene] |
| 101 | Genetic Tests for Germline Variants_Sequencing [MUT Gene] |
| 102 | Genetic Tests for Germline Variants_Sequencing [NAGLU Gene] |
| 103 | Genetic Tests for Germline Variants_Sequencing [NTRK1 Gene] |
| 104 | Genetic Tests for Germline Variants_Sequencing [RAF1 Gene] |
| 105 | Genetic Tests for Germline Variants_Sequencing [SGCE Gene] |
| 106 | Genetic Tests for Germline Variants_Sequencing [TGFBR2 Gene] |
| 107 | Genetic Tests for Germline Variants_Sequencing [SLC3A1 Gene] |
| 108 | Genetic Tests for Germline Variants_Sequencing [FANCG Gene] |
| 109 | Genetic Tests for Germline Variants_Sequencing [ZEB2 Gene] |
| 110 | Genetic Tests for Germline Variants_Sequencing [CBS Gene] |
| 111 | Genetic Tests for Germline Variants_Sequencing [MUTYH Gene] |
| 112 | Genetic Tests for Germline Variants_Sequencing [G6PD Gene] |
| 113 | Genetic Tests for Germline Variants_Sequencing [F12 Gene] |
| 114 | Genetic Tests for Germline Variants_Sequencing [HEXA Gene] |
| 115 | Genetic Tests for Germline Variants_Sequencing [SLC2A2 Gene] |
| 116 | Genetic Tests for Germline Variants_Sequencing [GALNS Gene] |
| 117 | Genetic Tests for Germline Variants_Sequencing [TMPRSS6 Gene] |
| 118 | Genetic Tests for Germline Variants_Sequencing [HEXB Gene] |
| 119 | Genetic Tests for Germline Variants_Sequencing [FRMD7 Gene] |
| 120 | Genetic Tests for Germline Variants_Sequencing [AGL Gene] |
| 121 | Genetic Tests for Germline Variants_Sequencing [APC Gene] |
| 122 | Genetic Tests for Germline Variants_Sequencing [ATP7A Gene] |
| 123 | Genetic Tests for Germline Variants_Sequencing [CFH Gene] |
| 124 | Genetic Tests for Germline Variants_Sequencing [CPS1 Gene] |
| 125 | Genetic Tests for Germline Variants_Sequencing [ELN Gene] |
| 126 | Genetic Tests for Germline Variants_Sequencing [GAA Gene] |
| 127 | Genetic Tests for Germline Variants_Sequencing [MYH9 Gene] |
| 128 | Genetic Tests for Germline Variants_Sequencing [NSD1 Gene] |
| 129 | Genetic Tests for Germline Variants_Sequencing [OCRL Gene] |
| 130 | Genetic Tests for Germline Variants_Sequencing [PCCA Gene] |
| 131 | Genetic Tests for Germline Variants_Sequencing [PEX1 Gene] |
| 132 | Genetic Tests for Germline Variants_Sequencing [PHEX Gene] |
| 133 | Genetic Tests for Germline Variants_Sequencing [SCN4A Gene] |
| 134 | Genetic Tests for Germline Variants_Sequencing [SOS1 Gene] |
| 135 | Genetic Tests for Germline Variants_Sequencing [STAT3 Gene] |
| 136 | Genetic Tests for Germline Variants_Sequencing [UNC13D Gene] |
| 137 | Genetic Tests for Germline Variants_Sequencing [ABCC8 Gene] |
| 138 | Genetic Tests for Germline Variants_Sequencing [CAPN3 Gene] |
| 139 | Genetic Tests for Germline Variants_Sequencing [F8 Gene] |
| 140 | Genetic Tests for Germline Variants_Sequencing [GNPTAB Gene] |
| 141 | Genetic Tests for Germline Variants_Sequencing [INSR Gene] |
| 142 | Genetic Tests for Germline Variants_Sequencing [MYH7 Gene] |
| 143 | Genetic Tests for Germline Variants_Sequencing [NPC1 Gene] |
| 144 | Genetic Tests for Germline Variants_Sequencing [PHKA2 Gene] |
| 145 | Genetic Tests for Germline Variants_Sequencing [PTCH1 Gene] |
| 146 | Genetic Tests for Germline Variants_Sequencing [RP1L1 Gene] |
| 147 | Genetic Tests for Germline Variants_Sequencing [SCN1A Gene] |
| 148 | Genetic Tests for Germline Variants_Sequencing [SLC12A3 Gene] |
| 149 | Genetic Tests for Germline Variants_Sequencing [TCOF1 Gene] |
| 150 | Genetic Tests for Germline Variants_Sequencing [VPS33B Gene] |
| 151 | Genetic Tests for Germline Variants_Sequencing [CHD7 Gene] |
| 152 | Genetic Tests for Germline Variants_Sequencing [COL2A1 Gene] |
| 153 | Genetic Tests for Germline Variants_Sequencing [COL3A1 Gene] |
| 154 | Genetic Tests for Germline Variants_Sequencing [CREBBP Gene] |
| 155 | Genetic Tests for Germline Variants_Sequencing [FANCA Gene] |
| 156 | Genetic Tests for Germline Variants_Sequencing [NIPBL Gene] |
| 157 | Genetic Tests for Germline Variants_Sequencing [KMT2D Gene] |
| 158 | Genetic Tests for Germline Variants_Sequencing [PKD1 Gene] |
| 159 | Genetic Tests for Germline Variants_Sequencing [SPG11 Gene] |
| 160 | Genetic Tests for Germline Variants_Sequencing [PKHD1 Gene] |
| 161 | Genetic Tests for Germline Variants_Southern Blot[D4Z4 Repeat] |
| 162 | Genetic Tests for Somatic Variants_PCR‐Extended_Nested PCR[MLL Gene, Partial Tandem Duplication] |
| 163 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[BAALC Gene] |
| 164 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[BRAF Gene] |
| 165 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[CBFB‐MYH11 Fusion Gene] |
| 166 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[EGFR Gene] |
| 167 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[KRAS Gene] |
| 168 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[NPM1 Gene] |
| 169 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[WT1 Gene] |
| 170 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[IDH1 Gene] |
| 171 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[MPL Gene] |
| 172 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐Hybridization[NRAS Gene] |
| 173 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[TRG Gene] |
| 174 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[TRD Gene] |
| 175 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[TRB Gene] |
| 176 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[IGH Gene] |
| 177 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[IGK Gene] |
| 178 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[IGL Gene] |
| 179 | Genetic Tests for Somatic Variants_PCR‐Extended_PCR‐PAGE[FLT3 Gene, Internal Tandem Duplication] |
| 180 | Genetic Tests for Somatic Variants_Sequencing [JAK2 Gene, Exon 12] |
| 181 | Genetic Tests for Somatic Variants_Sequencing [NPM1 Gene] |
| 182 | Genetic Tests for Somatic Variants_Sequencing [BRAF Gene] |
| 183 | Genetic Tests for Somatic Variants_Sequencing [IDH1 Gene] |
| 184 | Genetic Tests for Somatic Variants_Sequencing [MPL Gene] |
| 185 | Genetic Tests for Somatic Variants_Sequencing [IDH2 Gene] |
| 186 | Genetic Tests for Somatic Variants_Sequencing [PDGFRA Gene] |
| 187 | Genetic Tests for Somatic Variants_Sequencing [CSF3R Gene] |
| 188 | Genetic Tests for Somatic Variants_Sequencing [CEBPA Gene] |
| 189 | Genetic Tests for Somatic Variants_Sequencing [CALR Gene] |
| 190 | Genetic Tests for Somatic Variants_Sequencing [TP53 Gene] |
| 191 | Genetic Tests for Somatic Variants_Sequencing [CBL Gene] |
| 192 | Genetic Tests for Somatic Variants_Sequencing [RUNX1 Gene] |
Bang G, Park M, Seon J‐y, Park S‐Y. Comparative analysis of genetic testing utilization rates among people with and without disabilities in South Korea from 2016 to 2019, focusing on malignant neoplasms: A national population‐based study. Cancer Med. 2024;13:e7102. doi: 10.1002/cam4.7102
DATA AVAILABILITY STATEMENT
The datasets used and analyzed during this study are available upon reasonable request. The corresponding author should be contacted for the request to access the raw data.
REFERENCES
- 1. Moser RP, Arndt J, Han PK, Waters EA, Amsellem M, Hesse BW. Perceptions of cancer as a death sentence: prevalence and consequences. J Health Psychol. 2014;19(12):1518‐1524. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2. Lowe D. Is cancer a disease of the modern world?Accessed June 26, 2023. https://www.science.org/content/blog‐post/cancer‐disease‐modern‐world 2010.
- 3. Statistics Korea . Causes of Death Statistics in 2020. Accessed June 26, 2023. https://kostat.go.kr/board.es?mid=a20108100000&bid=11773&act=view&list_no=414516 2021.
- 4. Kang MJ, Won YJ, Lee JJ, et al. Cancer statistics in Korea: incidence, mortality, survival, and prevalence in 2019. Cancer Res Treat. 2022;54:330‐344. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 5. Ministry of Health and Welfare . Korea Central Cancer Registry [Annual Report]. 2022.
- 6. Cuypers M, Schalk BWM, Boonman AJN, Naaldenberg J, Leusink GL. Cancer‐related mortality among people with intellectual disabilities: a nationwide population‐based cohort study. Cancer. 2022;128:1267‐1274. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 7. Iezzoni LI. Cancer detection, diagnosis, and treatment for adults with disabilities. Lancet Oncol. 2022;23:e164‐e173. [DOI] [PubMed] [Google Scholar]
- 8. Heslop P, Cook A, Sullivan B, Calkin R, Pollard J, Byrne V. Cancer in deceased adults with intellectual disabilities: English population‐based study using linked data from three sources. BMJ Open. 2022;12:e056974. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 9. Kim JY, Kang MU, Seo WY, Won Lee JI. Chronic diseases, health behaviors, and mortality in persons with disabilities: an analysis of the National Health Insurance Service‐health screening (NHIS‐HEALS) database. Pogon Sahoe Yongu. 2020;40:121‐150. [Google Scholar]
- 10. Jeon H, Kim JM, Yoo JH, et al. [A study on incidence and mortality rates of cancer among people with disabilities. National Health Insurance Services Ilsan Hospital Research Department Report] 2021‐20‐008. 2021.
- 11. Chen M, Zhao H. Next‐generation sequencing in liquid biopsy: cancer screening and early detection. Hum Genomics. 2019;13(34):34. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 12. Jamshidi A, Liu MC, Klein EA, et al. Evaluation of cell‐free DNA approaches for multi‐cancer early detection. Cancer Cell. 2022;40(12):1537‐1549.e12. [DOI] [PubMed] [Google Scholar]
- 13. Gao Q, Zeng Q, Wang Z, et al. Circulating cell‐free DNA for cancer early detection. Innovation (Camb). 2022;3(4):100259. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 14. Rodriguez‐Salas N, Dominguez G, Barderas R, et al. Clinical relevance of colorectal cancer molecular subtypes. Crit Rev Oncol Hematol. 2017;109:9‐19. [DOI] [PubMed] [Google Scholar]
- 15. National Health Insurance Sharing Service . Accessed May 3, 2023. https://nhiss.nhis.or.kr/bd/ay/bdaya001iv.do.
- 16. Bang G, Lee SJ, Lee B, Park M, Park SY. Genetic testing on patients with developmental delay: a preliminary study from the perspective of physicians. Healthcare (Basel). 2022;10(7):1236. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 17. Satgé D, Axmon A, Trétarre B, Sandberg M, Ahlström G. Cancer diagnoses among older people with intellectual disability compared with the general population: a national register study. J Intellect Disabil Res. 2020;64(8):579‐588. [DOI] [PubMed] [Google Scholar]
- 18. Korean Statistical Information Service . Statistics on cancer screening target recipients and number of screened examinees by age and gender. Accessed December 3, 2022 https://kosis.kr/statHtml/statHtml.do?orgId=350&tblId=DT_35007_N010&conn_path=I25.
- 19. Statistics Korea, Ministry of Health and Welfare . Lives of Persons with Disabilities Seen through Statistics . 2020.
- 20. National Rehabilitation Center . Healthcare Statistics of Persons with Disabilities: Including Cause of Death in 2020 . 2019. Accessed December 3, 2022.
- 21. Steele CB, Townsend JS, Courtney‐Long EA, Young M. Prevalence of cancer screening among adults with disabilities, United States, 2013. Prev Chronic Dis. 2017;14:E09. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 22. Lee WC. Evidence‐based National Cancer Screening Program of Korea. J Korean Med Assoc. 2011;54:1028‐1035. [Google Scholar]
- 23. Kim Y, Shin DW, Kim HW, et al. Disparities in gastric cancer screening among people with disabilities: a national registry‐linkage study in South Korea. Gastric Cancer. 2020;23:497‐509. [DOI] [PubMed] [Google Scholar]
- 24. Shin DW, Lee JW, Jung JH, et al. Disparities in cervical cancer screening among women with disabilities: a national database study in South Korea. J Clin Oncol. 2018;36:2778‐2786. [DOI] [PubMed] [Google Scholar]
- 25. Solenberg AK Jr, Hall JP, Veazey BJ. Barriers to colorectal cancer screening for people with spinal cord injuries and/or disorders: a qualitative study. Disabil Health J. 2021;14(1):100950. [DOI] [PubMed] [Google Scholar]
- 26. Deroche CB, McDermott SW, Mann JR, Hardin JW. Colorectal cancer screening adherence in selected disabilities over 10 years. Am J Prev Med. 2017;52(6):735‐741. [DOI] [PubMed] [Google Scholar]
- 27. Ouellette‐Kuntz H, Coo H, Cobigo V, Wilton AS. Uptake of colorectal cancer screening among Ontarians with intellectual and developmental disabilities. PLoS One. 2015;10(2):e0118023. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 28. Shin DW, Chang D, Jung JH, et al. Disparities in the participation rate of colorectal cancer screening by fecal occult blood test among people with disabilities: a national database study in South Korea. Cancer Res Treat. 2020;52(1):60‐73. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 29. Kim SJ, Park S. Social implications of genetic screening and ways of upholding the rights to self‐determination of the people with disability. Korean J Ethics. 2021;10:101‐128. [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Data Availability Statement
The datasets used and analyzed during this study are available upon reasonable request. The corresponding author should be contacted for the request to access the raw data.
