PubMed · 11628279
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A Segal. 1979. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11628279/
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OBJECTIVES: The Rare Disease Diagnostic Support Program in the Republic of Korea aims to improve early diagnosis and diagnostic yield for patients with rare diseases, particularly for those residing in non-metropolitan areas, by providing whole genome sequencing (WGS) services through regional medical institutions. This study evaluated the performance of the program, focusing on its clinical utility, including early diagnosis and treatment linkage, and its policy impact related to patient benefits. METHODS: From August 2024, WGS was performed on 410 patients with suspected rare diseases at 23 institutions outside the metropolitan area. A one-stop diagnostic pathway was established to perform sample collection, test referral, report delivery, and genetic counseling within a single clinical flow based on the patient’s location of residence. Sequencing was performed by external laboratories. RESULTS: Among the 410 patients, pathogenic variants were identified in 129 (31.5%), with a turnaround time of 28 days. Of those diagnosed, 78.2% received treatment benefits via national programs such as co-payment exemption and medical expense support programs. Approximately 30% of the patients were eligible for therapeutic intervention, particularly medication or dietary therapy. Family genetic testing of three members identified potential carriers or high-risk groups in 28 households (65.1%). Consent for secondary findings was 99.0%, with clinically significant variants found in 3.9% of cases. CONCLUSIONS: The program demonstrated clinical value by improving diagnostic accessibility, reducing regional disparities, facilitating timely treatment, and supporting preventive care through family risk identification. These findings support the need for sustainable expansion of genome-based diagnostic services in the national health policy.
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BACKGROUND: Diagnostic reasoning is a key competence of physicians. We explored the effects of knowledge, practice and additional clinical information on strategy, redundancy and accuracy of diagnosing a peripheral neurological defect in the hand based on sensory examination. METHOD: Using an interactive computer simulation that includes 21 unique cases with seven sensory loss patterns and either concordant, neutral or discordant textual information, 21 3rd year medical students, 21 6th year and 21 senior neurology residents each examined 15 cases over the course of one session. An additional 23 psychology students examined 24 cases over two sessions, 12 cases per session. Subjects also took a seven-item MCQ exam of seven classical patterns presented visually. RESULTS: Knowledge of sensory patterns and diagnostic accuracy are highly correlated within groups (R2 = 0.64). The total amount of information gathered for incorrect diagnoses is no lower than that for correct diagnoses. Residents require significantly fewer tests than either psychology or 6th year students, who in turn require fewer than the 3rd year students (p < 0.001). The diagnostic accuracy of subjects is affected both by level of training (p < 0.001) and concordance of clinical information (p < 0.001). For discordant cases, refutation testing occurs significantly in 6th year students (p < 0.001) and residents (p < 0.01), but not in psychology or 3rd year students. Conversely, there is a stable 55% excess of confirmatory testing, independent of training or concordance. CONCLUSIONS: Knowledge and practice are both important for diagnostic success. For complex diagnostic situations reasoning components employing redundancy seem more essential than those using strategy.