Cancer Res Treat.  2024 Jan;56(1):27-36. 10.4143/crt.2023.844.

Trends and Clinical Characteristics of Next-Generation Sequencing–Based Genetic Panel Tests: An Analysis of Korean Nationwide Claims Data

• Jang M
• Pak HY
• Heo JY
• Lim H
• Choi YL
• Shim HS
• Kim EK

• KMID: 2550320
• DOI: http://doi.org/10.4143/crt.2023.844

Abstract

Purpose
In the modern era of precision medicine, next-generation sequencing (NGS) is employed for a variety of clinical purposes. The aim of this study was to investigate the trends and clinical characteristics of NGS testing in South Korea.
Materials and Methods
This nationwide, population-based, retrospective cohort study examined National Health Insurance Service claims data from 2017 to 2021 for NGS and from 2008 to 2021 for gene-targeted anticancer drugs.
Results
Among the total 98,748 claims, there were 51,407 (52.1%) solid cancer panels, 30,173 (30.5%) hereditary disease panels, and 17,168 (17.4%) hematolymphoid cancer panels. The number of annual claims showed a persistent upward trend, exhibiting a 5.4-fold increase, from 5,436 in 2017 to 29,557 in 2021. In the solid cancer panel, colorectal cancer was the most common (19.2%), followed by lung cancer (18.8%). The annual claims for targeted cancer drugs have increased 25.7-fold, from 3,932 in 2008 to 101,211 in 2020. Drugs for the treatment of lung cancer accounted for 488,819 (71.9%) claims. The number of patients who received non-hereditary NGS testing has substantially increased, and among them, the count of patients prescribed targeted anticancer drugs consistently rose from 508 (13.9%) in 2017 to 2,245 (12.3%) in 2020.
Conclusion
This study highlights the rising nationwide demand for comprehensive genetic testing for disease diagnosis and treatment following NGS reimbursement by the National Health Insurance in South Korea, in addition to the need for greater utilization of targeted anticancer drugs.

Keyword

Next-generation sequencing; Population-based; Claims data; National health insurance; Anticancer drug; Targeted therapy

Figure

• 

  Fig. 1. Annual number of claims for next-generation sequencing (NGS) testing. Note the 5.4-fold increase, surging from 5,436 in 2017 to 29,557 in 2021. Solid cancer level II is the most frequently used panel.

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  Fig. 2. Number of next-generation sequencing (NGS) claims according to the number of tests, RNA-sequencing, and department of test administration. (A) 10.6% claims were made more than once, representing 21% of the hematolymphoid cancer panel, 8.3% of the hereditary panel, and 8.4% of the solid cancer panel tests. (B) In total, 45.7% of the solid cancer panel and 8.5% of hematolymphoid cancer panel tests utilize RNA-sequencing. (C) The Department of Laboratory Medicine conducted 71,583 tests (72.5%) and the Department of Pathology conducted 27,152 tests (27.5%).

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  Fig. 3. Disease distribution of patients who underwent next-generation sequencing testing. (A) In the hereditary disease panel, psychobehavioral and neurodevelopmental disorders are the most common diseases (22.3%). (B) In the hematolymphoid cancer panel, leukemia is the most common disease (45.8%). (C) In the solid cancer panel, colorectal (19.2%) and lung cancer (18.8%) account for the highest distributions.

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  Fig. 4. Age distribution of patients who underwent next generation sequencing testing according the type of panel. Patients under the age of 20 account for 11,624 (40.3%) in the hereditary panel. The age distribution of patients in the solid and hematological cancer panels is similar, with well over a half in their 50s to 70s.

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  Fig. 5. Number of claims for gene-targeted anticancer drugs (TT) according to drug type and age groups. (A) The number of annual claims for TT increases from 3,932 in 2008 to 101,211 in 2020, and EGFR-related drugs account for the largest proportion (63.7%). (B) The percentage of TT usage is low until 29 years of age (1.4%) and then it increases steadily until the ages of 60-69 (29.5%). Before the age of 40, BCR/ABL- and KIT-targeting drugs are the most common TTs, after which EGFR-related drugs account for the highest proportion.

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  Fig. 6. Utilization of gene-targeted anticancer drugs (TT) and next-generation sequencing (NGS). (A) Among patients prescribed TT, the number undergoing NGS tests continues to increase from 697 (13%) in 2017 to 1,815 (31.3%) in 2020. (B) Among patients who underwent non-hereditary NGS tests, the number of patients prescribed TT is increasing steadily. However, the rate declines slightly, except in 2018.

Reference

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