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

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.

Risk of developing major depressive disorder in polycystic ovary syndrome: a retrospective cohort study.

This study aimed to investigate the risk of developing major depressive disorder (MDD) in women with polycystic ovary syndrome (PCOS). As a population-based retrospective cohort study based on the Korean National Health Insurance Claims Database and National Health Information Database, newly diagnosed 26,251 women with PCOS with age matched 131,480 women without PCOS from 2007 to 2010 were followed longitudinally and the subsequent occurrence of newly onset MDD was evaluated. The risk of developing MDD in women with PCOS after adjusting for various confounding variables was higher compared to women without PCOS (hazard ratio [HR]1.34, 95% confidence intervals [CI] 1.29-1.40, p<.0001). Stratified by the body mass index, the risk of being admitted to the hospital due to MDD was the highest in the overweight PCOS (HR 2.53, 95% CI 1.71-3.76, p<.0001). The risk of developing MDD was higher in women with PCOS compared to women without PCOS. Maintenance of the appropriate body weight should be emphasised as the hazard ratio of developing MDD was higher in overweight women with PCOS.Impact statementWhat is already known on this subject? PCOS is a multisystem disorder associated with various comorbidities including diabetes mellitus, infertility and endometrial cancer.What do the results of this study add? Women with PCOS showed a higher risk of developing MDD compared to age matched women without PCOS in this multivariate analysis after adjusting for body-mass-index, smoking habit, socio-economic status, residential area, blood glucose, and blood cholesterol. The risk of being admitted to hospital due to MDD was the highest in PCOS with BMI ≥ 25.What are the implications of these findings for clinical practice and/or further research? PCOS should not be considered as a condition confined to ovulatory dysfunction and dermatologic problems, but the higher risk of developing MDD should be recognised. The importance of maintaining an appropriate BMI should be emphasised, as the risk of being admitted to the hospital due to MDD increased in overweight and obese women with PCOS.

Demographic characteristics of labial adhesion in South Korea: a population-based study from 2010 to 2014.

OBJECTIVE: To investigate the demographic features of labial adhesion (LA) in South Korea. DESIGN: A population-based nationwide study. SETTING: Census population of South Korea. PARTICIPANTS: With the entire population of South Korea (n=47 990 761), patients under age 7 who were newly diagnosed with LA from January 2010 to December 2014 were included. MAIN OUTCOME MEASURE: The average incidence and the peak age of LA occurrence were estimated. RESULTS: A total of 4934 newly diagnosed LAs were analysed. The incidence of LA has constantly increased since 2008, the year that the Korean Developmental Screening Test for InfantsandChildren registry began. The average incidence of LA was 55.0 cases/100 000 person-years (95% CI 53.5 to 56.6). The highest incidence was 183.6 cases/100 000 person-years (95% CI 175.8 to 191.6) in the age group of13 to 24 months. The relative risk of acquiring LA in the age group of 13 to 24 months was 1.481 (95% CI 1.381 to 1.587) compared with the age group of 0 to 12 months. CONCLUSIONS: The demographic characteristics of LA including the average incidence and the highest incidence age group in South Korea were revealed in this nationwide, population-based study including a total of 4934 newly developed LA cases. Further studies are needed to reveal the natural disease course and the significance of diagnosing asymptomatic LA cases.

Association of Alzheimer's Disease with the Risk of Developing Epilepsy: a 10-Year Nationwide Cohort Study.

BACKGROUND AND PURPOSE: Previous studies have reported conflicting results about the prevalence of seizures in Alzheimer's disease (AD). There are few epidemiological studies on this topic in Asia. Thus, the objective of this study was to examine demographic and clinical characteristics as well as incidence for seizures in AD patients compared to non-AD patients in a prospective, longitudinal, community-based cohort with a long follow-up. METHODS: Data were collected from National Health Insurance Service-National Elderly Cohort (NHIS-elderly) Database to define patients with AD from 2004-2006 using Korean Classification Diseases codes G30 and F00. We performed a 1:5 case-control propensity score matching based on age, sex, and household income. We conducted Cox proportional hazards regression analysis to estimate the risk of epilepsy in AD patients. RESULTS: In the cohort study, patients with AD had higher risk for epilepsy than those without AD, with hazard ratio of 2.773 (95% confidence interval [CI], 2.515-3.057). This study also showed that male gender and comorbidities such as hypertension, hyperlipidemia, diabetes, and chronic kidney disease increased the risk of developing epilepsy. Patients with AD had 1.527 (95% CI, 1.375-1.695) times higher mortality rate than those in the control group. CONCLUSIONS: AD patients have significantly higher risk of developing epilepsy than non-AD patients.