Background: As nationwide government-led whole-genome sequencing (WGS) projects progress, optimizing the clinical integration of large-scale WGS results is crucial. We explored how the initial analysis from Korea’s First WGS Pilot Study for Rare Diseases was applied in clinical practice, and then we reanalyzed the data comprehensively at Samsung Medical Center (SMC) Seoul, Korea. Methods: A prospective cohort study designed to collect WGS data under a Korean national initiative was conducted from August 2020 to December 2021. We focused on patients with rare diseases recruited from 16 university hospitals. The participants included 5,000 individuals (2,200 probands and 2,800 family members). The initial WGS data and diagnostic reference reports (from 682 probands and 484 family members), generated based on the First Korean WGS Pilot Study for Rare Diseases, were subsequently reanalyzed by SMC. Results: The initial analysis of the First Korean WGS Pilot Study data revealed a diagnostic rate of 17%. Upon receiving these results, the SMC conducted two rounds of reanalysis, increasing the diagnostic rate from 15% in the first analysis, to 18% in the second, and finally to 24% in the third (P = 1.6 × 10 −5 ). Key factors in improving the genetic diagnosis included increased detection of novel (likely) pathogenic variants (P = 1.0 × 10 −4 ), improved diagnostic rates with larger family recruitment (P = 0.004), and refined clinical information for more precise genotype–phenotype correlation analysis (40%). Conclusions Although national WGS projects lay a foundation for rare disease diagnosis, hospital-level reanalysis and multidisciplinary collaborations are crucial for optimizing diagnostic outcomes.

Background: Recent advancements in large language models (LLMs) have accelerated their integration into clinical domains, including laboratory medicine. The performance of LLMs in answering board-level laboratory medicine questions has not been comprehensively evaluated. Given the importance of diagnostic accuracy in this field, rigorous and objective evaluations of LLM capabilities are essential. Methods: We assessed 12 LLMs from OpenAI, Anthropic, and Google using 320 Korean Residency Examination questions (2021–2024) spanning six laboratory medicine subspecialties. Standardized prompts were provided via their application programming interfaces under deterministic settings (temperature = 0). Questions were administered thrice to assess response reproducibility. Outputs were compared with validated answers and analyzed for accuracy, reasoning quality, and error typology. Results: Google’s Gemini 2.0 Pro achieved the highest accuracy (80.0%), followed by OpenAI’s GPT-4.5 (77.2%) and Anthropic’s Claude 3.7 Sonnet (74.1%). Accuracy decreased as the difficulty of questions increased (78.0% for easy vs. 45.1% for challenging). Subspecialty performance varied. Al models underperformed on questions on transfusion medicine (mean accuracy: 38.8%), primarily because of limitations in domain-specific and regional knowledge representations. Incorrect answers primarily resulted from reasoning errors. Reproducibility exceeded 95% for most models; however, some residual non-determinism appeared even with greedy decoding (temperature = 0). Conclusions LLMs demonstrated substantial potential for integration into laboratory medicine, particularly in clinical chemistry and immunology. Performance inconsistencies (particularly for high-difficulty questions) and knowledge gaps (notably for transfusion medicine) highlight the necessity for further development—potentially including domain-specific fine-tuning and retrieval-augmented generation integration—and robust expert oversight before clinical application.

Objective: : This retrospective study investigated the factors that affect cage obliquity angle despite orthogonal maneuvers performed during oblique lateral interbody fusion (OLIF) and assessed the relationship between cage obliquity angle and radiological outcomes post-surgery. Methods: : Twenty-nine males who underwent L4-L5 OLIF for lumbar degenerative disease between 2019 and 2021 with a followup duration greater than 12 months were analyzed. Radiological parameters were measured including psoas muscle volume, total psoas area index (total psoas muscle area [cm2]/height squared [m2]), distance from the iliac artery to the origin of the psoas muscle (DIAPM), angle between the origin of the psoas muscle and the center of the vertebral disc (APCVD), iliac crest height, disc height, lumbar flexibility (lumbar flexion angle minus extension angle), cage location ratio, cage-induced segmental lumbar lordosis (LL) (postoperative index level segmental LL minus used cage angle), foraminal height changes, fusion grade. Results: : DIAPM, APCVD, iliac crest height, postoperative index level segmental LL, and cage-induced segmental LL were significantly correlated with OLIF cage obliquity angle. However, other radiological parameters did not correlate with cage obliquity. Based on multiple regression analysis, the predictive equation for the OLIF cage obliquity angle was 13.062–0.318×DIAPM+0.325×A PCVD+0.174×iliac crest height. The greater the cage obliquity, the smaller the segmental LL compared to the cage angle used. Conclusion : At the L4-L5 level, OLIF cage obliquity was affected by DIAPM, APCVD, and iliac crest height, and as the cage obliquity angle increases, LL agnle achievable by the used cage could not be obtained.

Objective: Ossification of the posterior longitudinal ligament (OPLL) can progress even after cervical spine surgery and may cause neurological injury as a result of minor trauma. The purpose of this study was to investigate the preventive factors associated with OPLL progression after anterior cervical discectomy and fusion (ACDF), a procedure commonly performed in clinical practice. Methods: We retrospectively investigated 295 male soldiers who underwent ACDF surgery between 2012 and 2017. Patients who were followed up for >12 months using dynamic radiography and computed tomography (CT) were included in the study. Radiological parameters investigated included OPLL progression, C2-C7 angles on dynamic radiography, segmental angles, C2-C7 cervical sagittal vertical axis (C2-C7 SVA), and the T1 slope. These parameters were measured preoperatively and 1 year postoperatively. Results: A total of 49 patients were enrolled, and 10 patients were confirmed to have OPLL progression. Comparison between the OPLL progression and non-progression groups showed no statistically significant differences in pre- and postoperative cervical range of motion. However, statistically significant differences were observed in the postoperative neutral C2-C7 angle (progression −3.9°±6.4° vs. non-progression −13.4°±7.9°, p=0.001) and the SVA change (progression 5.8±7.9 mm vs. non-progression −3.7±6.3 mm, p=0.00). The cutoff values were −8.01° for the postoperative neutral C2-C7 angle and 1.4 mm for SVA changes. Conclusion Increased SVA (>1.4 mm) and a small postoperative neutral C2-C7 angle (>−8.01°) 1 year after ACDF were associated with OPLL progression. It is important to be mindful of these factors during follow-up after ACDF, because additional surgical treatment may be necessary for OPLL progression due to neurological injury caused by minor trauma.

Purpose: Demand for genetic counseling on cancer predisposition syndrome is increasing. We evaluated the psychological effect on counselees after genetic counseling at a clinic in a single center. Materials and Methods: We surveyed a total of 72 enrolled participants who visited a genetic counseling clinic at the Samsung Medical Center (SMC). The initial survey was conducted before the first genetic counseling session, and the second survey was conducted after the second genetic counseling session. A total of 43 participants completed both the initial and second surveys. Results: The initial survey of 72 participants indicated higher feelings of guilt in the group with religion, higher depression and anxiety in the group with a diagnosis of self, and higher anxiety in the group on self-referral to the genetic counseling clinic.In the completed survey of 43 participants, overall decreased depression was observed after the second genetic counseling session (P=0.013). Risk perception and anxiety decreased in the group diagnosed with benign variant/variant of uncertain significance (BV/VUS, 25/3) and increased in the group diagnosed with pathogenic variant (PV, 15). Risk perception and anxiety differed between the BV/VUS and PV groups (P<0.001 and P=0.03, respectively). Conclusion The genetic counseling clinic at the SMC was effective in ameliorating the depression score. Assessment of survey results revealed different depression scores, feelings of guilt and anxiety, and different effects of the genetic counseling clinic, depending on the subgroups. Understanding the needs and psychological characteristics of different groups is necessary for improving genetic counseling services.

Purpose: Demand for genetic counseling on cancer predisposition syndrome is increasing. We evaluated the psychological effect on counselees after genetic counseling at a clinic in a single center. Materials and Methods: We surveyed a total of 72 enrolled participants who visited a genetic counseling clinic at the Samsung Medical Center (SMC). The initial survey was conducted before the first genetic counseling session, and the second survey was conducted after the second genetic counseling session. A total of 43 participants completed both the initial and second surveys. Results: The initial survey of 72 participants indicated higher feelings of guilt in the group with religion, higher depression and anxiety in the group with a diagnosis of self, and higher anxiety in the group on self-referral to the genetic counseling clinic.In the completed survey of 43 participants, overall decreased depression was observed after the second genetic counseling session (P=0.013). Risk perception and anxiety decreased in the group diagnosed with benign variant/variant of uncertain significance (BV/VUS, 25/3) and increased in the group diagnosed with pathogenic variant (PV, 15). Risk perception and anxiety differed between the BV/VUS and PV groups (P<0.001 and P=0.03, respectively). Conclusion The genetic counseling clinic at the SMC was effective in ameliorating the depression score. Assessment of survey results revealed different depression scores, feelings of guilt and anxiety, and different effects of the genetic counseling clinic, depending on the subgroups. Understanding the needs and psychological characteristics of different groups is necessary for improving genetic counseling services.

The Barricor tube (Becton Dickinson [BD], Sunnyvale, CA, USA) was recently developed to mechanically separate plasma by increasing the centrifugation rate. We compared the Barricor tube with existing serum- and plasma-based tubes based on 35 biochemical analytes and preanalytical turnaround time (TAT). Blood samples were collected from 30 healthy volunteers in a Barricor tube, serum separating tube (SST, Vacutainer SST II Tube 8.5 mL, #368972; BD), or plasma separating tube (PST, Vacutainer PST Tube 8.0 mL, #367964; BD) in random order. Next, 27 chemistry analytes, six immunochemistry analytes, and two cardiac markers were compared using Passing-Bablok regression and the Bland-Altman method. Preanalytical TAT was measured for each tube.The Barricor tube exhibited bias exceeding the desirable limit for nine and four analytes compared with the SST and PST, respectively. The Barricor tube lactate dehydrogenase value showed a bias of -10.29% and -9.86% compared with that of the SST and PST, respectively. The preanalytical TAT of Barricor tube was 8.8 minutes, which was the shortest among the three tubes. The clinical performance of the Barricor tube was equivalent to that of the SST and PST for most analytes, with an apparent advantage in preanalytical TAT. When using the Barricor tube, the reference range needs to be changed for some analytes that exceed the desirable bias limit.

Melatonin and cortisol are clinically important for diagnosing sleep and mood disorders.We developed and validated a liquid chromatography-tandem mass spectrometry (LC-MS/ MS) assay for simultaneous measurement of salivary melatonin and cortisol concentrations according to the Clinical and Laboratory Standards Institute guidelines. Additionally, we compared the LC-MS/MS assay with immunoassays, ELISA (Direct Salivary Melatonin Elisa EK-DSM, Bühlmann Laboratories AG, Schönenbuch, Switzerland) and electrochemiluminescence immunoassay (Cortisol II, Roche, Mannheim, Germany), using 121 saliva samples. The LC-MS/MS assay exhibited good performance in terms of linearity, precision, accuracy, limit of detection, lower limit of quantification, extraction recovery, carry-over, and matrix effect. The LC-MS/MS assay and immunoassays showed strong correlation (Pearson’s r = 0.910 for melatonin, r = 0.955 for cortisol), but demonstrated a significant mean bias of 23.2% (range 54.0–143.7%) for melatonin and 48.9% (range 59.7–184.7%) for cortisol. Our LC-MS/MS assay provided more sensitive and reliable salivary melatonin and cortisol quantification results compared with immunoassays.

The GENEDIA MTB/NTM Detection Kit (GENEDIA MTB/NTM; Green Cross Medical Science Corp., Chungbuk, Korea) is a multiplex real-time PCR assay used for differential identification of Mycobacterium tuberculosis complex (MTBC) and nontuberculous mycobacteria (NTM). While the importance of differential identification of MTB/NTM is recognized, there is limited data on the performance of GENEDIA MTB/NTM assay to date. A total of 687 consecutive sputum specimens were cultured and analyzed with the GENEDIA MTB/NTM and GENEDIA MTB assays. Nineteen specimens (2.8%) were MTBC-positive, and 69 (10.0%) were NTM-positive based on mycobacterial culture. All specimens showed concordant results for MTBC using both assays, with a kappa value of 1.00, overall sensitivity of 63.2% (12/19), and specificity of 100% (668/668). The overall NTM sensitivity and specificity were 23.2% (16/69) and 99.7% (616/618) for GENEDIA MTB/NTM. The association between NTM-positivity using GENEDIA MTB/NTM and the diagnosis of NTM pulmonary disease was not statistically significant. In conclusion, the two real-time PCR assays showed similar diagnostic performance for MTBC detection. However, the sensitivity for NTM detection was lower than that for MTBC detection.